Our myocardium is thicker than it should be, predominantly in the septum, and it is so thick that it obstructs the LV outflow, producing a "functional" stenosis with a pressure gradient. Our objective will be, first of all, to "relax" the myocardium: for this purpose, a beta-blocker is recommended, whereas digoxin, as a good positive inotrope, increases the gradient and is contraindicated. Sport is not highly recommended, given the increased risk of sudden death associated with this pathology. And if we have a fat septum, which protrudes into the LV cavity, it is not advisable to perform volume depletion, since we would also be increasing the gradient. Regarding number 5, it is true: it is convenient to perform a careful exploration and an ECG in the relatives of patients with hypertrophy.

Our myocardium is thicker than it should be, predominantly in the septum, and it is so thick that it obstructs the LV outflow, producing a "functional" stenosis with a pressure gradient. Our objective will be, first of all, to "relax" the myocardium: for this purpose, a beta-blocker is recommended, whereas digoxin, as a good positive inotrope, increases the gradient and is [HIDDEN]. Sport is not highly recommended, given the increased risk of sudden death associated with this pathology. And if we have a fat septum, which protrudes into the LV cavity, it is not advisable to perform volume depletion, since we would also be [HIDDEN]. Regarding number 5, it is [HIDDEN]: it is convenient to perform a careful exploration and an ECG in the relatives of patients with hypertrophy.

A 26-year-old male patient, competitive athlete, is studied because his brother has had a sudden death. Complementary tests detect the existence of obstructive hypertrophic cardiomyopathy. Mark the FALSE option regarding this pathology:

Treatment with beta-blockers helps to reduce symptoms.

Abandonment of competitive sport should be recommended.

Digoxin is useful to reduce the subaortic gradient.

Diuretics should be avoided or used with great care.

Given the hereditary nature of the pathology, a screening study should be performed in the rest of the direct relatives.

Medical, surgical and interventional management of hypertrophic cardiomyopathy with obstruction.

Patients with hypertrophic cardiomyopathy (HCM) are classified as having hypertrophic obstructive cardiomyopathy (HOCM) if a left ventricular outflow tract (LVOT) gradient is present at rest or during provocation, as with Valsalva maneuver or exercise. Management of HCM in general and HOCM in particular encompasses (1) activity restriction with avoidance of volume depletion, (2) prevention of sudden cardiac death, (3) control of symptoms, and (4) screening of relatives. Those patients at high risk of sudden cardiac death (SCD) should be offered an implantable cardioverter-defibrillator (ICD). Pharmacologic treatment of symptoms in patients with HOCM consists of negative inotropic drugs, namely beta blockers, and disopyramide; a nondihydropyridine calcium channel blocker (CCB), usually verapamil, may be used in patients with noncardiac side-effects of beta blockers. Patients who have a dual-chamber pacemaker (PM) or ICD should undergo a trial of pacing with short atrioventricular (AV) delay. For patients with intolerable symptoms despite optimal conservative therapy, septal reduction therapy (SRT) should be considered and should be performed by experienced operators in institutions with multidisciplinary HCM programs. Younger patients with extreme hypertrophy are usually offered septal myectomy, while older patients, and those with important comorbidities are usually directed to alcohol septal ablation (ASA). For patients for whom either therapy is appropriate, there should be a balanced discussion with the patients of the benefits and risks of the 2 procedures.

Hypertrophic cardiomyopathy: a systematic review.

Throughout the past 40 years, a vast and sometimes contradictory literature has accumulated regarding hypertrophic cardiomyopathy (HCM), a genetic cardiac disease caused by a variety of mutations in genes encoding sarcomeric proteins and characterized by a broad and expanding clinical spectrum. To clarify and summarize the relevant clinical issues and to profile rapidly evolving concepts regarding HCM. Systematic analysis of the relevant HCM literature, accessed through MEDLINE (1966-2000), bibliographies, and interactions with investigators. Diverse information was assimilated into a rigorous and objective contemporary description of HCM, affording greatest weight to prospective, controlled, and evidence-based studies. Hypertrophic cardiomyopathy is a relatively common genetic cardiac disease (1:500 in the general population) that is heterogeneous with respect to disease-causing mutations, presentation, prognosis, and treatment strategies. Visibility attached to HCM relates largely to its recognition as the most common cause of sudden death in the young (including competitive athletes). Clinical diagnosis is by 2-dimensional echocardiographic identification of otherwise unexplained left ventricular wall thickening in the presence of a nondilated cavity. Overall, HCM confers an annual mortality rate of about 1% and in most patients is compatible with little or no disability and normal life expectancy. Subsets with higher mortality or morbidity are linked to the complications of sudden death, progressive heart failure, and atrial fibrillation with embolic stroke. Treatment strategies depend on appropriate patient selection, including drug treatment for exertional dyspnea (beta-blockers, verapamil, disopyramide) and the septal myotomy-myectomy operation, which is the standard of care for severe refractory symptoms associated with marked outflow obstruction; alcohol septal ablation and pacing are alternatives to surgery for selected patients. High-risk patients may be treated effectively for sudden death prevention with the implantable cardioverter-defibrillator. Substantial understanding has evolved regarding the epidemiology and clinical course of HCM, as well as novel treatment strategies that may alter its natural history. An appreciation that HCM, although an important cause of death and disability at all ages, does not invariably convey ominous prognosis and is compatible with normal longevity should dictate a large measure of reassurance for many patients.

Hypertrophic cardiomyopathy

UK A post-mortem following the death of TV presenter David Frost in 2013 found he had HCM, though it did not contribute to his death and his family was not informed. The sudden cardiac death of his 31-year-old son in 2015 led the family to collaborate with the British Heart Foundation to raise funds for better screening. Treatment Asymptomatic people A significant number of people with hypertrophic cardiomyopathy do not have any symptoms and will have a normal life expectancy, although they should avoid particularly strenuous activities or competitive athletics. Asymptomatic people should be screened for risk factors for sudden cardiac death. In people with resting or inducible outflow obstructions, situations that will cause dehydration or vasodilation (such as the use of vasodilatory or diuretic blood pressure medications) should be avoided. Septal reduction therapy is not recommended in asymptomatic people.

Hypertrophic Cardiomyopathy.

When an individual is diagnosed with hypertrophic cardiomyopathy (HCM), all relatives potentially affected by Mendelian autosomal-dominant inheritance should be evaluated with an electrocardiogram (ECG) and echocardiogram. Genetic testing should be considered in high-risk mutations where there are diagnostic uncertainties. Symptom relief depends on beta-blockers as first-line therapy. If the disease is nonobstructive, then calcium channel blockers can be added or used alone. If there is a significant left ventricular outflow tract (LVOT) gradient then disopyramide can be used, ideally in combination with a beta-blocker. Verapamil should be used with care due to potential exacerbation of the LVOT gradient. Nonmedical therapy for obstructive disease consists of surgical myectomy, alcohol septal ablation, or dual-chamber pacing. Surgery is the gold standard, although in experienced hands and directed appropriately, septal ablation achieves good results. Pacing is generally less effective. The development of atrial fibrillation (AF) or left atrial enlargement carries a significant risk of thromboembolism. All patients should be closely observed for AF and thromboembolic risk, and the threshold for initiation of anticoagulation should be low in patients with sustained palpitations, atrial enlargement, and nonsustained supraventricular arrhythmia on Holter. All patients with HCM should be assessed for their risk of sudden death regardless of severity of symptoms or morphology. The factors predictive of risk are 1) previous cardiac arrest; 2) unexplained syncope; 3) family history of premature sudden death; 4) abnormal blood pressure response to exercise; 5) nonsustained ventricular tachycardia; and 6) severe left ventricular hypertrophy >/= 30 mm.

Hypertrophic cardiomyopathy in the adolescent.

Hypertrophic cardiomyopathy is the more accurate term for the condition also known as idiopathic hypertrophic subaortic stenosis, asymmetric septal hypertrophy or hypertrophic obstructive cardiomyopathy. Although an uncommon condition in the adolescent, its importance lies in the fact that it is hereditary, sometimes difficult to diagnose clinically, and may be associated with sudden death - especially during or after exertion. All patients with a systolic murmur at the left sternal border should be made to stand, squat and perform a Valsalva maneuver while being auscultated. Since hypertrophic cardiomyopathy is associated with a dynamic intraventricular gradient, the murmur will change in character and intensity during these maneuvers. An electrocardiogram and echocardiogram is indicated if there is any suspicion of the diagnosis. Patients with hypertrophic cardiomyopathy should be prohibited from participating in competitive sports or performing strenuous activities even in the absence of a significant intracavitary gradient. They should be placed on high-dose beta-blockers and followed closely. Follow-up should include the use of Holter monitoring to exclude the presence of arrhythmias. Supraventricular or ventricular arrhythmias should be treated aggressively since they may be associated with sudden death. Family members or first-degree relatives should be screened by echocardiography for the condition and the patient informed of the genetic nature of the disease. The condition needs to be differentiated from the 'athlete's heart' which may present with a murmur and electrocardiographic and echocardiographic evidence of left ventricular hypertrophy, since the latter condition is considered physiologic and not an indication to discontinue an athlete's activities.

The diagnosis and treatment of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most common hereditary disease of the heart. In this article, we summarize the current state of the diagnosis and treatment of HCM on the basis of a selective review of recent publications with relevance to clinical practice. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Thus, HCM can be thought of as a sarcomeric disease, with myocardial fiber disarray as its histological hallmark. There are two types of HCM, a more common, obstructive type (HOCM, 70%) and a less common, non-obstructive type (HNCM; in all cases of HCM, testing should be performed to detect outflow obstruction at rest and/or on provocation, and to thereby determine whether HOCM or HNCM is present. The symptoms of HCM include dyspnea, angina pectoris, palpitations, dizziness, and occasionally syncope. Because sudden cardiac death is the most serious complication of HCM, particularly in young and asymptomatic patients, it follows that correct diagnosis, followed by risk stratification of patients with regard to the need for prophylactic implantation of an implantable cardiac defibrillator (ICD), can be of life-saving importance. The pharmacotherapy of symptomatic HNCM consists of the treatment of heart failure with a normal ejection fraction (HFNEF). In HOCM, the patient's symptoms and the obstructive gradient are the guide to treatment with beta-blockers or verapamil. For patients with drug-resistant disease, surgical myectomy and percutaneous septal ablation are now standard treatments. A near-normal life expectancy and a highly satisfactory quality of life are now realistic treatment goals for patients with HCM.

Hypertrophic cardiomyopathy as a cause of sudden death.

Hypertrophic cardiomyopathy (HCM) is the main cause of sudden unexpected death in the young and especially in young athletes with an incidence up to 2.3 per 100,000 athletes and year. Risk stratification models including patient history (syncope, familial risk of sudden death) and findings in noninvasive tests (nonsustained ventricular tachycardia, abnormal blood pressure response during exercise, maximum left ventricular wall thickness > or = 30 mm) have been developed in order to estimate the risk of individual patients. Echocardiographic parameters are helpful in distinguishing HCM from athlete's heart. Definitive diagnosis of HCM implicates disqualification from competitive sports resulting in a significant reduction of sudden cardiac death due to HCM during sports competition. This positive development should lead to a widespread preparticipation screening of athletes including historical, clinical, and electrocardiographic examination. At least in borderline findings and symptomatic athletes, an additional echocardiogram should be performed in order to minimize or better exclude the risk of sudden cardiac death.

Hypertrophic cardiomyopathy in childhood and adolescence - strategies to prevent sudden death.

Clinically overt hypertrophic cardiomyopathy is the most common cause of sudden unexpected death in childhood and has significantly higher sudden death mortality in the 8- to 16-year age range than in the 17- to 30-year age range. A combination of electrocardiographic risk factors (a limb-lead ECG voltage sum >10 mV) and/or a septal wall thickness >190% of upper limit of normal for age (z-score > 3.72) defines a paediatric high-risk patient with great sensitivity. Syncope, blunted blood pressure response to exercise, non-sustained ventricular tachycardia and a malignant family history are additional risk factors. Of the medical treatments used, only beta-blocker therapy with lipophilic beta-blockers (i.e. propranolol, metoprolol or bisoprolol) have been shown to significantly reduce risk of sudden death, with doses ≥ 6 mg/kg BW in propranolol equivalents giving around a tenfold reduction in risk. Disopyramide therapy is a very useful adjunct to beta-blockers to improve prognosis in those patients that have dynamic outflow obstruction in spite of large doses of beta-blocker, and its use in patients with hypertrophic cardiomyopathy is not associated with significant pro-arrhythmia mortality. Calcium-channel blockers increase the risk of heart failure-associated death in hypertrophic cardiomyopathy (HCM) patients with severe generalized hypertrophy and should be avoided in such patients. Amiodarone does not protect against sudden death, and long-term use in children usually has to be terminated because of side effects. Therapy with internal cardioverter defibrillator implantation has high paediatric morbidity, 27% incidence of inappropriate shocks, and does not absolutely protect against mortality but is indicated as secondary prevention or in very high-risk patients.

[Hypertrophic obstructive cardiomyopathy: current treatment, indications and results].

Global annual mortality in hospitalized patients with symptomatic hypertrophic obstructive cardiomyopathy is just under 5%. Several treatments have been proposed for this severe disease in order to improve diastolic function and reduce the intraventricular obstacle. The aim is to improve symptomatology and prognosis. The mainstay of treatment is drug therapy. The negative inotrope and bradytrope action of beta-blockers given at medium doses of 160 to 320 mg/day (propranolol) helps decrease the incidence of dyspnoea chest pain and the frequency of syncopes in 30 to 70% of the patients. Higher doses up to 1 g per day may be helpful in certain patients, but with the risk of sudden death. Calcium channel inhibitors at a dose of 360 mg/day for verapamil give very favourable results in patients managed medically and sometimes in those undergoing surgery. Amiodarone is essentially used as an antiarrhythmic drug in obstructive syndromes complicated by severe ventricular arrhythmias. Wider use is limited due to cardiac and extracardiac side effects. Other drugs including disopyramide, diuretics, digitalics and antivitamin K agents also have a role to play. The aim of surgery is to alleviate the intraventricular obstacle, correct mitral regurgitation and increase left ventricular compliance. There has been much controversy over the most adapted approach, but the most commonly used technique is currently septal myectomy which reduces the intraventricular gradient by 80 to 90%. Simple mitral valve replacement gives similar improvement in cardiac haemodynamics but exposes the patient to the complications inherent with mitral prostheses. Dual chamber sequential pacing has also been proven to be an effective means of treating hypertrophic obstructive cardiomyopathy, reducing the risk of sudden death as well as symptomatology in selected patients. Apical pre-stimulation using a short atrio-ventricular delay and the paradoxical septal movement induced by right ventricular stimulation decreases the sub-aortic obstruction and thus improves left ventricular performance. This method must be confirmed by mid- and long term results. We are in agreement with the Mayo Clinic recommendations that surgical myectomy remains the preferred treatment for most patients with severe hypertrophic obstructive cardiomyopathy who are unresponsive to medical treatment.

[Primary hypertrophic cardiomyopathies. Diagnosis and treatment].

Hypertrophic cardiomyopathy (HCM) is currently considered to be a condition characterised by abnormal diastolic function, sometimes associated with left ventricular outflow obstruction which appears to be a secondary phenomenon. It is important to avoid overlooking this diagnosis especially in young subjects, because of the risk of sudden death, but conversely, false positive diagnosis can result in a serious social and psychological handicap. Echocardiography has assumed a major role in the diagnosis and follow-up of HCM over the last decade. It allows analysis of the localisation, extension and severity of the septal hypertrophy and of the mechanism of systolic anterior motion of the mitral valve. Cardiac doppler completes the non-invasive assessment of this condition by demonstrating the presence or absence of outflow tract obstruction, evaluating diastolic dysfunction, and documenting mitral and occasionally aortic valve regurgitation. Only severely symptomatic patients who do not respond to high dose medical therapy and for whom surgery might be an option need cardiac catheterization. Strenuous physical activity and sport are not recommended in asymptomatic forms. It is vital to identify those patients at high risk of sudden death (family history of sudden death, 48 to 72 hour Holter monitoring). In the absence of silent arrhythmias, preventive therapy should be more general in patients under 30 years of age. Despite a better understanding of the disease, the indications of medical and surgical treatment remain controversial and poorly defined. Treatment is mainly medical with Propranolol as the drug of choice. The dosage has to be tailored for each individual patient.(ABSTRACT TRUNCATED AT 250 WORDS)

Hypertrophic cardiomyopathy

The primary goal of medications is to relieve symptoms such as chest pain, shortness of breath, and palpitations. Beta blockers are considered first-line agents, as they can slow down the heart rate and decrease the likelihood of ectopic beats. For people who cannot tolerate beta blockers, nondihydropyridine calcium channel blockers such as verapamil can be used, but are potentially harmful in people who also have low blood pressure or severe shortness of breath at rest. These medications also decrease the heart rate, though their use in people with severe outflow obstruction, elevated pulmonary artery wedge pressure, and low blood pressures should be done with caution. Dihydropyridine calcium channel blockers should be avoided in people with evidence of obstruction. For people whose symptoms are not relieved by the above treatments, disopyramide can be considered for further symptom relief. Diuretics can be considered for people with evidence of fluid overload, though cautiously

Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care.

Hypertrophic cardiomyopathy (HCM) is one of the more common hereditary cardiac conditions. According to presence or absence of outflow obstruction at rest or with provocation, a more common (about 60-70%) obstructive type of the disease (HOCM) has to be distinguished from the less common (30-40%) nonobstructive phenotype (HNCM). Symptoms include exercise limitation due to dyspnea, angina pectoris, palpitations, or dizziness; occasionally syncope or sudden cardiac death occurs. Correct diagnosis and risk stratification with respect to prophylactic ICD implantation are essential in HCM patient management. Drug therapy in symptomatic patients can be characterized as treatment of heart failure with preserved ejection fraction (HFpEF) in HNCM, while symptoms and the obstructive gradient in HOCM can be addressed with beta-blockers, disopyramide, or verapamil. After a short overview on etiology, natural history, and diagnostics in hypertrophic cardiomyopathy, this paper reviews the current treatment options for HOCM with a special focus on percutaneous septal ablation. Literature data and the own series of about 600 cases are discussed, suggesting a largely comparable outcome with respect to procedural mortality, clinical efficacy, and long-term outcome.

Hypertrophic cardiomyopathy: current views on etiology, pathophysiology, and management.

Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease of unknown cause that is characterized by a hypertrophied, nondilated, hypercontractile left ventricle. Its etiology and pathogenesis remain undefined but the three principal factors implicated are a genetic predisposition, a hypersensitivity to catecholamines, and an abnormal calcium metabolism. The hypertrophy typically involves the intraventricular septum to varying degrees, but may also involve the apex or free wall and even be concentric. The disease occurs in either an obstructive or a nonobstructive form depending on whether an intraventricular pressure gradient can be demonstrated at rest or on provocation. The gradient and obstruction to outflow is usually seen in patients with asymmetric septal hypertrophy (ASH) and anterior motion of the mitral valve during systole (SAM). Abnormal left ventricular diastolic function characterized by inadequate filling and impaired relaxation has been shown to be very important in both the obstructive and nonobstructive forms of the disease. In addition, inadequate coronary vasodilator reserve as a result of small vessel disease, microvascular spasm, and/or low capillary density per unit myocardial mass has been implicated as an important cause of ischemia in patients without coronary artery disease. HCM is a disease of young adulthood with relatively slow progression; young patients are often asymptomatic, whereas older patients are more limited by dyspnea, angina, dizziness, or syncope. Supraventricular tachyarrhythmias occur in 30% of patients, and high-grade ventricular arrhythmias occur in over 75%. The annual mortality is 3-5%. The common mode of demise is sudden cardiac death. Therefore, the primary objectives of treatment are the amelioration of symptoms, the control of arrhythmias, and the prevention of sudden death. Beta-adrenoreceptor blocking agents decrease myocardial contractility and oxygen demands and increase ventricular volume; therefore, they are most useful in patients with the obstructive form of HCM. Calcium channel antagonists enhance left ventricular relaxation, relieve microvascular spasm, and improve coronary filling and therefore are the agents of choice in patients with diastolic dysfunction. The ability of the calcium channel antagonists to decrease contractility makes them valuable in patients with obstructive HCM. Arterial vasodilators, diuretics, nitrates, and inotropic agents should be avoided because they can increase the intraventricular gradient. Myomyectomy is reserved for those patients with the obstructive form of HCM whose symptoms are refractory to medical therapy.(ABSTRACT TRUNCATED AT 400 WORDS)

Hypertrophic cardiomyopathy screening

Hypertrophic cardiomyopathy, HCM can be symptomatic or asymptomatic. In a limited number of cases it can lead to sudden cardiac death, SCD. Screening is sometimes used with the aim of reducing SCD. Description HCM is a genetic disorder that causes the muscle of the heart (the myocardium) to thicken (or hypertrophy). It can cause dangerous arrhythmias (abnormal heart rhythms). The thickening of the heart also makes it harder for blood to leave, forcing the heart to work more vigorously to pump blood. HCM occurs in approximately 2 per 1,000 people in the general population, being a primary and familial malformation. The condition is seen in people of all ages. Some studies indicate that HCM is a cause of sudden cardiac death in athletes. The disease is equally prevalent in males and females. Screening and diagnosis Screening to detect HCM is an important process in preventing a possible sudden cardiac death. References

Hypertrophic cardiomyopathy

For children with HCM, treatment strategies aim to reduce disease symptoms and lower the risk of sudden death. Due to the heterogeneity of the disease, treatment is usually modified according to individual's needs. β-blockers improve left ventricular filling and relaxation and thereby improve symptoms. In some children, β–blockers (e.g., propranolol) were shown effective to reduce the risk of sudden death. Further, calcium channel blockers (verapamil) and antiarrhythmic drugs may be used as an adjunct therapy to β-blockers in symptomatic children. Nonetheless, further testing is needed to determine their definitive benefits. Other animals

Management of hypertrophic cardiomyopathy in children.

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease characterized by unexplained left ventricular hypertrophy, typically involving the interventricular septum. Hypertrophy may be present in infants, but commonly develops during childhood and adolescence. Management of children with HCM aims to provide symptomatic relief and prevention of sudden death, which is the primary cause of death. Unfortunately, no randomized comparative trials to date have assessed different treatment options in HCM. Medical treatment with negative inotropic agents (beta-adrenoceptor antagonists [beta-blockers], verapamil) is the first therapeutic choice in all symptomatic patients. Beta-blockers also appear to have prognostic merit in children. Surgical myectomy is effective in reducing symptoms in children with left ventricular (LV) obstruction who are unresponsive to medical treatment, although a repeat operation may be needed in a substantial proportion of patients due to relapse of LV obstruction. The recently introduced percutaneous septal ablation can also be regarded as a feasible alternative in this cohort. Technical limitations of both invasive therapeutic options should be carefully considered, preferably in experienced centers. Results of recent randomized trials indicate that dual chamber pacing, once considered a therapeutic option for patients with HCM, should only be used as treatment for conduction abnormalities. Regular clinical risk stratification for sudden death is of vital importance for the prevention of sudden death in young patients. Familial history of sudden death at a young age, LV hypertrophy >3 cm, unexplained syncope, nonsustained ventricular tachycardia in Holter monitoring, and abnormal blood pressure response during exercise are currently considered clinical risk factors for sudden death. Each factor has a low positive predictive accuracy, but patients having two or more of these risk factors are deemed as high risk. Secondary prevention of sudden death in patients successfully resuscitated from cardiac arrest and/or sustained ventricular tachycardia warrants treatment with an implantable cardioverter defibrillator (ICD). Primary prevention of sudden death in patients considered to be at high risk should aim at the management of obvious arrhythmogenic mechanisms (paroxysmal atrial fibrillation, sustained monomorphic ventricular tachycardia, conduction system disease, accessory pathway, myocardial ischemia), and the prevention and/or management of ventricular tachyarrhythmias with amiodarone and/or ICD implantation, respectively. The choice of treatment in children is greatly influenced by technical aspects, such as adverse effects of amiodarone, and ICD implantation difficulties or complications. Amiodarone could also be used as a bridge in children at high risk, until they reach adulthood, possibly achieving a lower risk status, or until their physical growth permits ICD implantation as long-term therapy.

Disopyramide

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, occurring in 1:500 individuals in the general population. It is estimated that there are 600,000 individuals in the United States with hypertrophic cardiomyopathy. The most common variant of HCM presents with left ventricular (LV) intracavitary obstruction due to systolic anterior motion of the mitral valve, and mitral-septal contact, diagnosed readily with echocardiography. Pharmacologic treatment with negative inotropic drugs is first-line therapy. Beta-blockers are used first, and while they improve symptoms of shortness of breath, chest pain and exercise intolerance, they do not reduce resting LV intraventricular pressure gradients and often are inadequate to control symptoms. Many investigators and clinicians believe that disopyramide controlled release is the most potent agent available for reducing resting pressure gradients and improving symptoms. Disopyramide has been actively used for more than

[Syncope in hypertrophic (obstructive) cardiomyopathy].

Hypertrophic cardiomyopathy is the most common genetic cardiac disease. The most important pathophysiological finding is dynamic (outflow tract) obstruction of the left ventricle in about 70% of affected patients. Especially in younger patients, an increased risk of sudden cardiac death has been observed. Syncope and presyncope-in addition to extremely variable cardiac symptoms (dyspnea and angina)-are common. The etiology of syncope is complex. The most important aspect for diagnosis is a detailed history regarding the accompanying circumstances of the syncope. In principle, an attempt must be made to distinguish between rhythmogenic and hemodynamic causes. Diagnostic work-up should be performed under the criteria of a possible prognostic-with implantation of an implantable cardioverter-defibrillator (ICD) in patients at increased risk of sudden cardiac death-and symptomatic therapy. Depending on the underlying morphology and the experience of the surgeon, percutaneous septal ablation and operative myectomy are complementary options for symptomatic treatment if medical therapy with beta-blockers and/or verapamil is inadequate.

Determinants for clinical diagnosis of hypertrophic cardiomyopathy.

Although hypertrophic cardiomyopathy (HC) occurs in 1 of 500 adults, most cardiology practices treat relatively few patients with HC, suggesting that many affected patients evade clinical recognition. Determining the clinical circumstances under which HC is identified will provide clues to its under-recognition. Clinical triggers leading to diagnostic echocardiograms were analyzed in 711 consecutive patients with HC. In most (384 [54%]), HC was initially suspected only after the onset of cardiac symptoms or acute cardiac events. In a substantial minority (327 [46%]), HC was recognized while patients were asymptomatic, including 225 (32%) by routine medical evaluations, in 27 of whom (4%) HC was recognized during preparticipation examinations for competitive sports or other activities. Women, older patients (age > or =50 years), and those with outflow obstruction at rest (gradient > or =30 mm Hg) were more likely suspected to have HC by virtue of cardiac symptoms or events (p <0.0001). Conversely, patients with extreme hypertrophy (wall thickness > or =30 mm) and those at high risk for sudden death were more often asymptomatic and identified by routine or family screenings (p <0.0001 and p = 0.004, respectively). Patients who subsequently died of heart failure or experienced embolic stroke were more often identified by virtue of symptoms or acute events (p = 0.03). In conclusion, although most patients with HC were recognized clinically only after overt disease manifestations, a substantial minority were diagnosed by routine examinations while asymptomatic, including an important subset of patients with HC recognized solely because of findings on sports preparticipation screening. These data underscore the need for heightened awareness and clinical suspicion of HC to increase the number of diagnosed patients, including many who may be at high risk for sudden death.

Pathophysiology and treatment of hypertrophic cardiomyopathy.

All patients with hypertrophic cardiomyopathy (HCM) should have five aspects of care addressed. An attempt should be made to detect the presence or absence of risk factors for sudden arrhythmic death. If the patient appears to be at high risk, discussion of the benefits and risks of ICD are indicated, and many such patients will be implanted. Symptoms are appraised and treated. Bacterial endocarditis prophylaxis is recommended. Patients are advised to avoid athletic competition and extremes of physical exertion. First degree family members should be screened with echocardiography and ECG.

Hypertrophic cardiomyopathy

Screening Although HCM may be asymptomatic, affected individuals may present with symptoms ranging from mild to critical heart failure and sudden cardiac death at any point from early childhood to seniority. HCM is the leading cause of sudden cardiac death in young athletes in the United States, and the most common genetic cardiovascular disorder. One study found that the incidence of sudden cardiac death in young competitive athletes declined in the Veneto region of Italy by 89% since the 1982 introduction of routine cardiac screening for athletes, from an unusually high starting rate. As of 2010, however, studies have shown that the incidence of sudden cardiac death, among all people with HCM, has declined to one percent or less. Screen-positive individuals who are diagnosed with cardiac disease are usually told to avoid competitive athletics.

[Therapeutic approaches in symptomatic hypertrophic obstructive cardiomyopathy].

Hypertrophic cardiomyopathy is a complex and heterogeneous disease. Although most patients experience just a few symptoms, and have a good prognosis, there are others whose symptoms are severe and progressive, determined by different pathophysiological elements such as diastolic dysfunction, myocardial ischemia, arrhythmias and subaortic obstruction. Approximately 20-30% of hypertrophic cardiomyopathy patients develop an intraventricular dynamic gradient, which in some cases, is responsible for severe symptoms which are ameliorated once the obstruction is reduced. In many cases the symptoms can be controlled with medical treatment which includes betablockers, calcium-channel antagonists and dysopiramide, but some patients will still experience severe and refractory symptoms. This subgroup of patients, which represent approximately 5-10% of patients with hypertrophic cardiomyopathy, can be problematic from a management perspective. For many years, septal myectomy and/or mitral valve replacement offered the only effective alternative therapy for these patients. However, the high rates of morbidity and mortality associated with these procedures have necessitated the search for new and less invasive procedures such as ventricular pacing and percutaneous septal ablation. Although the initial results with sequential pacing were encouraging, further studies have suggested a significant placebo effect, which makes its application controversial. In the last 5 years selective embolization of the septal artery precipitating a localized myocardial infarction has been utilized to reduce the subaortic gradient. The potential indications and efficacy of these new forms of treatment, like ventricular pacing and percutaneous septal ablation, are presently under evaluation and are the main subject of this review. Medical treatment, with either beta-blockers, calcium channel antagonists or dysopiramide constitutes the first therapeutic step. Surgery, while alleviating the subaortic obstruction and reducing the intraventicular pressure and mitral insufficiency, produces important and long-lasting symptomatic and functional improvement in most of these patients, and it continues to be an important therapeutic alternative in these cases. If the first results with sequential pacemaker implants were encouraging, today it is alluded to an important placebo effect that causes its application to be controversial. In the last 5 years the path has been made in the creation of a septal infarction located through the embolization of the septal branches to reduce the gradient.

[Hypertrophic cardiomyopathy: place and limitations of medical therapy].

The development of echocardiography and kindred studies have enabled the detection of an increasing number of asymptomatic forms of hypertrophic cardiomyopathy. Drug therapy, by far the commonest therapeutic method of managing this condition, has only been shown to be effective on the symptoms. Therefore, due to the risk of iatrogenic disease, medication is only proposed to symptomatic patients: high dose betablockers is the usual treatment; when ineffective or contra-indicated, verapamil may be prescribed at progressively increasing doses under strict medical control. These products may need to be given at high doses in order to be effective but excessive bradycardia may be a limiting factor. Amiodarone alone or in association, may be preferred in forms with arrhythmias. The comparative efficacy of the different drugs, especially in preventing sudden death, requires well designed, controlled, therapeutic trials. Their results, if positive, would question the dogma of only treating symptomatic patients.

[Management of hypertrophic cardiomyopathy - the most common inherited heart disease].

Hypertrophic cardiomyopathy is the most common cardiogenetic disease affecting 1/500-1/1 000 individuals. Dyspnea is common but chest pain, dizziness or fainting may also cause considerable limitation for the patient. The diagnosis can be suspected from ECG. Echocardiography confirms hypertrophy of at least 15 mm, usually in the septum. If the obstruction of the outflow tract is severe, myectomy or alcohol ablation can relieve symptoms. Genetic evaluation of family members is advisable. To reduce symptoms, betablockers are used; verapamil or disopyramide are alternatives. Atrial fibrillation is often prevalent and requires special attention concerning anticoagulation and rhythm or rate control. An end-stage heart failure warrants advanced treatment options such as cardiac resynchronization therapy, ventricular assist devices or heart transplant. Sudden cardiac death is unpredictable and evaluation of risk markers is important to identify potential candidates for an implantable defibrillator.

Clinical outcomes in adult athletes with hypertrophic cardiomyopathy: a 7-year follow-up study.

Current guidelines recommend precautionary disqualification from competitive sports in patients with hypertrophic cardiomyopathy (HCM). We assessed the incidence of cardiovascular events in a cohort of patients with HCM engaged in long-term exercise programmes and competitive sport. We reviewed data on 88 consecutive athletes diagnosed with HCM, from 1997 to 2017; 92% male, 98% Caucasian, median age 31 (IQR: 19-44) years. All participated in regular exercise programmes and competitive sport at study entry.We performed follow-up evaluation after 7±5 (1-21) years. 61 (69%) of the athletes had substantially reduced or stopped exercise and sport (ie, HCM-detrained), and 27 had continued with regular training and sport competitions (HCM-trained). At baseline evaluation, both groups were similar for age, gender balance, symptoms, ECG abnormalities, extent of left ventricular hypertrophy, arrhythmias and risk profile for sudden cardiac death/arrest. During the follow-up period, two participants suffered sudden cardiac arrest or death (0.3% per year) both outside of sport participation. In addition, 19 (22%) reported symptoms (syncope in 3, palpitations in 10, chest pain in 4 and dyspnoea in 2). The Kaplan-Meier analyses of freedom from combined sudden cardiac arrest/death and symptoms (log-rank test p=0.264) showed no differences between HCM-trained and detrained patients. In this adult cohort of low-risk HCM athletes, voluntary decision to pursue in participation in competitive sport events was not associated with increased risk for major cardiac events or clinical worsening compared with decision to reduce or withdraw from exercise programmes and sport. Similar results may not be seen in younger or racially diverse athlete populations, or in patients with more severe HCM phenotypes.

[Hypertrophic cardiomyopathy (HCM). Surgical versus drug therapy].

Hypertrophic cardiomyopathy (HCM) is a disease with different etiological, morphological, functional, clinical and therapeutic aspects. Recent investigations indicate that HCM is considerably widespread in the population (1:500). The causes seem to generate from familial or sporadic abnormalities (mutations). Depending on the clinical aspect, the complaints, and on the basis of morphologic and hemodynamic investigational results, we mainly have to consider two types of medical and surgical management. 1. Hypertrophic nonobstructive cardiomyopathy (HNCM) Patients may have no hemodynamic or morphologic deviations, but may be identified by familial moleculargenetic investigations. Others may have different types of rhythm disturbances which may indicate a higher risk of sudden death. Depending on the degree of hypertrophy, the clinical impairment indicates medical therapy with beta-blockers, Ca antagonists, and antiarrhythmic drugs. In the case of clinical deterioration and manifestation of myocardial insufficiency diuretics, digitalis, ACE inhibitors, and catecholamines are indicated. Further impairment may lead to heart transplantation or as a bridging procedure to implantation of a left ventricular or biventricular assist device until a suitable donor heart is available. 2. Hypertrophic obstructive cardiomyopathy (HOCM) Symptomatic patients may have different localizations of the left ventricular outflow tract obstruction (LVOTO) in the subaortic area (typical form) and in midventricular position of the LV (atypical form). The first therapeutic step is always medical therapy with beta-blockers, Ca antagonists, and antiarrhythmic drugs. Further deterioration toward clinical class III (NYHA) despite long-term medication until recently was generally accepted as indication for transaortic subvalvular myectomy (TSM). Today mostly two other techniques are preferred--if possible Double chamber pacing (DCP) (atrial triggered ventricular pacing), Transcoronary ablation of septal hypertrophy (TASH) (by selective injection of alcohol, 95%, into the first septal branch). Especially in younger patients, after syncope, life-threatening tachyarrhythmias, and after resuscitation, the implantation of a cardioverter defibrillator may be necessary. Comparative prospectively randomized studies between different therapeutic regimens for HOCM are not available. Retrospective analyses of patients after TSM show a considerable clinical improvement. The risk of sudden death is relatively low, but not excluded. Patients after TSM demonstrate advantages concerning the survival rate despite the more deteriorated condition against those after medical therapy only. According to the new interventional techniques, long-term results are not yet available, of course. However, the long-term results after TSM may serve as a comparative standard which have at least to be reached by DCP and/or TASH.

Screening for hypertrophic cardiomyopathy in young athletes.

For more than 20 years in Italy, young athletes have been screened before participating in competitive sports. We assessed whether this strategy results in the prevention of sudden death from hypertrophic cardiomyopathy, a common cardiovascular cause of death in young athletes. We prospectively studied sudden deaths among athletes and nonathletes (35 years of age or less) in the Veneto region of Italy from 1979 to 1996. The causes of sudden death in both populations were compared, and the pathological findings in the athletes were related to their clinical histories and electrocardiograms. Cardiovascular reasons for disqualification from participation in sports were investigated and follow-up was performed in a consecutive series of 33,735 young athletes who underwent preparticipation screening in Padua during the same period. Of 269 sudden deaths in young people, 49 occurred in competitive athletes (44 male and 5 female athletes; mean age, 23+/-7 years). The most common causes of sudden death in athletes were arrhythmogenic right ventricular cardiomyopathy (22.4 percent), coronary atherosclerosis (18.4 percent), and anomalous origin of a coronary artery (12.2 percent). Hypertrophic cardiomyopathy caused only 1 sudden death among the athletes (2.0 percent) but caused 16 sudden deaths in the nonathletes (7.3 percent). Hypertrophic cardiomyopathy was detected in 22 athletes (0.07 percent) at preparticipation screening and accounted for 3.5 percent of the cardiovascular reasons for disqualification. None of the disqualified athletes with hypertrophic cardiomyopathy died during a mean follow-up period of 8.2+/-5 years. The results show that hypertrophic cardiomyopathy was an uncommon cause of death in these young competitive athletes and suggest that the identification and disqualification of affected athletes at screening before participation in competitive sports may have prevented sudden death.

[Presymptomatic screening after a sudden cardiac death in the family].

Sudden cardiac death without ischaemic heart disease may be due to a hereditary heart disease with an autosomal dominant heredity. The occurrence, if any, of sudden death in such a family is a main indicator for the risk of sudden cardiac death in other family members. Cardiological and/or genetic investigation may reveal a hereditary disease in relatives without symptoms. Of some of these pathological conditions, the corresponding chromosomal localizations and sometimes the gene mutations have been identified. The psychic burden of family investigation and the socio-economic consequences (insurances, occupation, family relationships) are potentially heavy. Prophylactic treatment of asymptomatic persons in whom a gene mutation is established may comprise advice about lifestyle (e.g. avoidance of peak exercise in patients with hypertrophic cardiomyopathy), medication (e.g. beta-receptor blockers in patients with a long QT interval) or implantation of a pacemaker or internal defibrillator (e.g. in asymptomatic persons with the Brugada syndrome, a form of right bundle branch block). Presymptomatic investigation must be performed multidisciplinary.

Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death in China.

The cardiovascular pre-participation screening proposal for young competitive athletes has the potential to save young lives. This study aimed to identify individuals at risk for potentially lethal cardiovascular diseases in athletes before competition. Between June 2005 and July 2005, 351 (170 male and 181 female) elite Chinese athletes from 21 sports were profiled. The 12-lead electrocardiogram and echocardiography were employed to evaluate cardiovascular diseases. The vast majority had no definitive evidence of cardiovascular disease. However, abnormal ECGs were identified in 16 athletes (4.5%), including 4 with distinctly abnormal and 12 with mildly abnormal patterns. Only 13 athletes (3.7%) had echocardiographic evidence of relatively mild valve regurgitation that had not been previously suspected. In three athletes with relatively mild ventricular septal hypertrophy (13-14 mm), it was not possible to discern with absolute certainty whether the wall thickening was a manifestation of hypertrophic cardiomyopathy or secondary to athletic conditioning ("athlete heart"). This screening protocol identified no athletes with definite evidence of hypertrophic cardiomyopathy, Marfan's syndrome or other cardiovascular diseases that convey a significant potential risk for sudden death or disease progression during athletic activity. This is largely due to the relative low prevalence of conditions resulting in sudden cardiac death in young athletes and high false positive/negative rates in the tests used as part of the screening process (due to a large overlap between cardiovascular changes due to pathology and those due to intense training).

Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy.

In this study we assessed the long-term efficacy and safety of disopyramide for patients with obstructive hypertrophic cardiomyopathy (HCM). It has been reported that disopyramide may reduce left ventricular outflow gradient and improve symptoms in patients with HCM. However, long-term efficacy and safety of disopyramide has not been shown in a large cohort. Clinical and echocardiographic data were evaluated in 118 obstructive HCM patients treated with disopyramide at 4 HCM treatment centers. Mortality in the disopyramide-treated patients was compared with 373 obstructive HCM patients not treated with disopyramide. Patients were followed with disopyramide for 3.1 +/- 2.6 years; dose 432 +/- 181 mg/day (97% also received beta-blockers). Seventy-eight patients (66%) were maintained with disopyramide without the necessity for major non-pharmacologic intervention with surgical myectomy, alcohol ablation, or pacing; outflow gradient at rest decreased from 75 +/- 33 to 40 +/- 32 mm Hg (p < 0.0001) and mean New York Heart Association functional class from 2.3 +/- 0.7 to 1.7 +/- 0.6 (p < 0.0001). Forty other patients (34%) could not be satisfactorily managed with disopyramide and required major invasive interventions because of inadequate symptom and gradient control or vagolytic side effects. All-cause annual cardiac death rate between disopyramide and non-disopyramide-treated patients did not differ significantly, 1.4% versus 2.6%/year (p = 0.07). There was also no difference in sudden death rate, 1.0%/year versus 1.8%/year (p = 0.08). Two-thirds of obstructed HCM patients treated with disopyramide could be managed medically with amelioration of symptoms and about 50% reduction in subaortic gradient over >/=3 years. Disopyramide therapy does not appear to be proarrhythmic in HCM and should be considered before proceeding to surgical myectomy or alternate strategies.

[Sudden death and obstructive hypertrophic cardiomyopathy].

Sudden death is the most common cause of death in obstructive hypertrophic cardiomyopathies. Ventricular arrhythmias appear to be involved most frequently. The typical clinical picture is that of a young, asymptomatic male subject with a family history of sudden death and obstructive hypertrophic cardiomyopathy. The electrocardiogram at rest, the left ventricular pressure gradient, and the width of the septum are not good predictive criteria. Holter monitoring with the discovery of a run of ventricular tachycardia is the only method which identifies a subgroup at high risk for sudden death. Treatment with beta blockers does not protect patients with obstructive hypertrophic cardiomyopathy from sudden death and only combined therapy with an antiarrhythmic agent can control ventricular rhythm disturbances and decrease the number of sudden deaths in this condition.

Echocardiogram -- Indications

The use of echocardiography in asymptomatic patients includes screening patients who have first degree relatives with hypertrophic cardiomyopathy (HCM), aortic aneurysms or dissections, and those athletes that have electrocardiographic (ECG) changes. These patients may not have any immediate complaints, but their strong family history should give the clinician a high pretest probability to order an Echocardiogram. For example, patients with HCM may have a family history of sudden cardiac death in 1st-degree relatives at a young age.