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Assoc. Prof Rose Mary Ferreira Lisboa da Silva,
With a prevalence of 1:500, hypertrophic cardiomyopathy is the most common genetic heart disease. It is marked by phenotypic and genotypic heterogeneity. Patients may develop sudden arrhythmic death, progressive heart failure, and atrial fibrillation. For risk stratification, there are major and possible risk factors. Treatment is based on symptoms, and whether left ventricular outflow tract obstruction, family history and risk for sudden cardiac death are present.
The description of hypertrophic cardiomyopathy (HCM) has been attributed to Dr. Braunwald et al from the early 1960s, but Liouville, Hallopeau, Schimincke, Davies, Brock and Teare as early as 1869 had contributed to its functional and anatomical characterisation (1,2) defining it as a variable degree of asymmetric left ventricular hypertrophy in the absence of secondary triggers (3). An autosomal dominant mutation causes this disorder and the first gene mutation for this condition was identified in 1989. With a vast genetic heterogeneity of more than 1400 mutations, the most common genetically mediated form is myofilament (sarcomere) HCM with hundreds of disease associated mutations in 11 genes encoding proteins critical to the cardiac sarcomere (4). This disease affects both genders, various ethnicities and age ranges, however, its clinical recognition may occur earlier in men and later in women and African-Americans (5).
Clinical presentation may vary from totally asymptomatic to dyspnea, chest pain, palpitations, syncope or sudden death. HCM should be considered if a patient has unexplained symptoms, a family history of premature cardiac disease, or recognition of a heart murmur or electrocardiographic abnormalities during routine, preparticipation sports examinations or test screening may reveal:
The diagnosis is confirmed by demonstration of increased left-ventricular wall thickness of 15 mm or more (or the equivalent relative to body surface area in children) in one or more myocardial segnents by two-dimensional echocardiography and/or cardiovascular magnetic resonance. Mitral valve systolic anterior motion that occurs in 10% to a third of patients (6) or hyperdynamic left ventricle are not mandatory for a diagnosis of HCM. The hypertrophy is usually predominant at the confluence of the anterior septum and anterior free wall, but patients may have unusual patterns of hypertrophy.
Risk stratificationComplications attributable to HCM are:
Sudden cardiac death (SCD) is frequently the first clinical manifestation of HCM and continues to be the most devastating complication in its natural history despite its annual rate of 1% (annual rate of 6% in a retrospective study in children) (8). In adult patients, the risk factors are (9)
Despite these established risk markers, about 50% of patients with HCM have no markers for high risk status and the risk of SCD for these patients is not negligible, with an event rate of 0.6% per year (10). On the other hand, and paradoxically, patients in the seventh decade of life are at low risk for disease-related morbidity or mortality, even with the risk markers (11).
Pregnant women with HCM usually tolerate pregnancy well, but are considered high risk if symptomatic before pregnancy and if there is a high gradient in the outflow tract of the left ventricle. During pregnancy, there is an increased fluid volume, which overloads their hearts and compromises and increases the obstetrical risk (12).
In athletes, HCM is the most common cardiovascular cause of SCD, accounting for 36% of all deaths (13). The guidelines recommend that athletes with HCM should not participate in competitive organised activities, should avoid physical activity in extreme environmental conditions of heat, cold, or high humidity, and should prefer aerobic exercise as opposed to isometric exercise.Besides the major risk factors, there are the possible risk factors considered thus due to controversial results in the literature (14,15). The others risk factors are left ventricular outflow tract (LVOT) obstruction, myocardial fibrosis or scarring, left ventricular aneurysm, atrial fibrillation, physical exertion and genotype (Table 1). Resting LVOT obstruction occurs in 25% to 30% of patients, and up to two thirds of all patients with HCM has this significant obstruction after provocation with Valsalva maneuver and/or exercise. It reported a significant association between the extent of myocardial scar and the occurrence of ventricular tachyarrhythmia and the presence of conventional risk factors (16). Although the role of clinical genetic testing in HCM is undergoing change and refinement, a positive genetic test can provide for an increased probability of disease progression, particularly with regard to the systolic and diastolic dysfunction and propensity to develop symptoms (17). And genotyping can be a powerful tool for family screening and diagnosis. Genetic testing is recommended (class I) to confirm the diagnosis when performed in laboratories with experience in the interpretation of mutations related cardiomyopathy.
As HCM is a familial heart disease, prospective family screening is recommended. Clinical evaluation, with history and physical examination, as well as electrocardiogram and echocardiography and 48-hour ambulatory electrocardiogram monitoring, should be taken every 12 to 24 months, or sooner if necessary. Ambulatory electrocardiogram monitoring should be taken every 6 to 12 months in patients with new palpitations or left atrial diameter ≥ 45 mm. Cardiovascular magnetic resonance may be made every 5 years in stable patients or every 2-3 years, there is disease progression. Screening under the age of 12 is recommend if there be any of the conditions: onset of symptoms, competitive athlete in an intense training program, malignant family history of premature HCM death or other adverse complications or other clinical suspicion of early LV hypertrophy. This clinical evaluation should be made also for the first-degree relatives who have the same definite disease-causing mutation as the proband.
As a general rule, treatment is individualised based on symptoms and whether LVOT obstruction, family history and risk for SCD are present. Possible modalities are pharmacologic, surgical myectomy or percutaneous alcohol septal ablation, or a combination of therapies, and implantable cardioverter defibrillator (ICD) (18). Vasodilators, positive inotropic drugs, norephrine, phosphodieterase-5 inhibitors, nitrates or b-adrenergic agonists, due to the increased LVOT obstruction, should be avoided.
For patients refractory to medical treatment in NYHA (New York Heart Association) functional Class III-IV, and with LVOT obstruction of 50 mm Hg or more (at rest or with physiologic provocation), surgical septal myectomy is the preferred treatment option, i.e. ≥ 30 mm). It is a surgical procedure described in 1961 in which a small portion (7 mm) of the thickened ventricular septum is removed. It improves quality of life as well as to offer long-term survival rates and presents operative mortality < 1% (19-20).
Percutaneous alcohol septal ablation is an alternative option for selected patients who are not optimal surgical candidates (older patients or those with co-morbidities, profound aversion to surgery, or particularly marked septal hypertrophy). It is a non-surgical procedure, first used in 1995, done by injecting a small amount of absolute alcohol in a small branch of the coronary artery that supplies blood to the upper portion of the left ventricular septum. Complication rates are high, including the need for pacemaker implantation (in 10-20%), cardiac tamponade and ventricular arrhythmias.
Dual-chamber permanent pacing is only indicated for patients who have conduction disease or who are not candidates for septal reduction therapy (recommendation class IIb) (21). Risk stratification markers have demonstrated strong predictive power in identifying many susceptible patients who have benefited from the introduction of prophylactic ICD therapy to HCM. Currently, ICD is the preferred therapy for patients with HCM resuscitated from prior cardiac arrest (22). ICD has reduced the mortality associated with HCM in adult patients about 10 times, from 5% per year (25 years ago) to 0.5% per year at this time. However, problems with ICD leads and generators (sometimes requiring recalls) have a great impact on patients. The possibility of inappropriate shocks or other complications of devices (by about 5% per year) is an important element in decision making for primary prevention in patients with HCM (23). ICD for primary prevention is recommended for high risk patients (≥ 6% risk of SCD in 5 years).
Patients with major risk factors in HCM present a risk for SCD, but about 50% of all patients have no markers. Beta blockers are the first-line agents for symptomatic patients, surgical septal myectomy is the treatment of choice for refractory patients, and ablation alcohol is an alternative therapy. For patients resuscitated from prior cardiac arrest, ICD is the preferred therapy. It is recommended to conduct prospective family screening and for the role of genetic testing to be defined.
Table 1 - Major and possible risk factors for sudden cardiac death (3,5,9,14,15)
1 - Fifty years of hypertrophic cardiomyopathy. Roberts WC. Am J Cardiol 2009;1 03(3):431-4. 2 - The 50-year history, controversy, and clinical implications of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy from idiopathic hypertrophic subaortic stenosis to hypertrophic cardiomyopathy: from idiopathic hypertrophic subaortic stenosis to hypertrophic cardiomyopathy. Maron BJ, Maron MS, Wigle ED, Braunwald E. J Am Coll Cardiol 2009; 54(3):191-2009.3 - 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). http://www.ncbi.nlm.nih.gov/pubmed/25173338. Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. Eur Heart J 2014; 35(39):2733-79. - 4 - Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. 015860. Maron BJ, Maron MS, Semsarian C. 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Europace 2010; 12(3):313-21.10 - Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors. Spirito P, Autore C, Formisano F, Assenza GE, Biagini E, Haas TS, et al. Am J Cardiol 2014; 113(9):1550-5.11 - Risk stratification and outcome of patients with hypertrophic cardiomyopathy ≥ 60 years of age. Maron BJ, Rowin EJ, Casey SA, Haas TS, Chan RH, Udelson JE, et al. Circulation 2013; 127(5):585-93. 12 - ESC Guidelines on the management of cardiovascular diseases during pregnancy: the Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). European Society of Gynecology (ESG); Association for European Paediatric Cardiology (AEPC); German Society for Gender Medicine (DGesGM), Regitz-Zagrosek V, Blomstrom Lundqvist C, Borghi C, Cifkova R, Ferreira R, Foidart JM, et al; ESC Committee for Practice Guidelines. Eur Heart J 2011; 32(24):3147-97.13 - Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Circulation 2009; 119(8):1085-92.14 - Predicting long-term outcomes in asymptomatic or minimally symptomatic patients with HCM: back to basics. Rakowski H, Li Q. JACC Cardiovasc Imaging 2014; 7(1):37-9.15 - Contemporary insights and strategies for risk stratification and prevention of sudden death in hypertrophic cardiomyopathy. Maron BJ. Circulation 2010; 121(3):445-56.16 - Myocardial fibrosis evaluated by look-locker and late gadolinium enhancement magnetic resonance imaging in apical hypertrophic cardiomyopathy: Association with ventricular tachyarrhythmia and risk factors. Amano Y, Takeda M, Tachi M, Kitamura M, Kumita S. J Magn Reson Imaging . 2013 Oct 29 [Epub ahead of print].17 - Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. Bos JM, Towbin JA, Ackerman MJ. J Am Coll Cardiol 2009; 54(3):201-11.18 - Management of symptomatic hypertrophic cardiomyopathy: pills, alcohol, or the scalpel? Gersh BJ, Nishimura RA. Rev Esp Cardiol (Engl Ed) 2014; 67(5):341-4.19 - Controversies in cardiovascular medicine. Benefits of surgery in obstructive hypertrophic cardiomyopathy: bring septal myectomy back for European patients. Maron BJ, Yacoub M, Dearani JA. Eur Heart J 2011; 32(9):1055-8.20 - Contemporary surgical management of hypertrophic cardiomyopathy, the need for more myectomy surgeons and disease-specific centers, and the Tufts initiative. http://www.ncbi.nlm.nih.gov/pubmed/24012037. Maron BJ, Rastegar H, Udelson JE, Dearani JA, Maron MS. Am J Cardiol 2013; 112(9):1512-5.21 - 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy: the Task Force on cardiac pacing and resynchronization therapy of the European Society of Cardiology (ESC). Developed in collaboration with the European Heart Rhythm Association (EHRA). Brignole M, Auricchio A, Baron-Esquivias G, Bordachar P, Boriani G, Breithardt OA, et al. Eur Heart J 2013; 34(29):2281-329.22 - 2012 ACCF/AHA/HRS focused update incorporated into the ACCF/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA 3rd, Freedman RA, Gettes LS, et al; American College of Cardiology Foundation; American Heart Association Task Force on Practice Guidelines; Heart Rhythm Society. J Am Coll Cardiol 2013; 61(3):e6-75.23 - Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications. Vriesendorp PA, Schinkel AF, Van Cleemput J, Willems R, Jordaens LJ, Theuns DA, et al. 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Rose Mary Ferreira Lisboa da Silva.MD, PhD, Associate Professor, Faculty of Medicine, Federal University of Minas Gerais, Brazil.Author disclosures: None declared.
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