History

Fact Explanation
Asymptomatic [1],[2] Patients with obstructive hypertrophic cardiomyopathy can be asymptomatic as the disease has not yet developed up to the level to produce any symptoms, but in echocardiography there would be hypertrophied but non dilated left ventricular chamber.[1],[2]
Shortness of breath [1] In obstructive hypertrophic cardiomyopathy the septum wall in between ventricles become hypertrophied and cause left ventricular outflow tract obstruction. Other than that the anterior displacement of the papillary muscles and mitral leaflets also lead to the left ventricular outflow tract obstruction and gradually cause heart failure.[3]
Fatigue [1] In obstructive hypertrophic cardiomyopathy the septum wall in between ventricles become hypertrophied and cause left ventricular outflow tract obstruction. Other than that the anterior displacement of the papillary muscles and mitral leaflets also lead to the left ventricular outflow tract obstruction and gradually cause heart failure.[3]
Chest discomfort [1] This can be occur due to myocardial ischemia. This may be due to small-vessel disease with decreased vasodilator capacity. Other factors as septal perforator artery compression, myocardial bridging, decreased coronary perfusion pressure, obstruction to LV outflow, and decreased capillary myocardial fiber ratio also may contribute.[3]
Dizziness, faintishness [1] During the hypertrophy process, the normal pattern of muscle cells is disturbed and can lead to problems with conducting system of the heart, resulting in arrhythmias.[5]
Palpitations [1] The normal pattern of muscle cells is disturbed and can lead to problems with conducting system of the heart, resulting in arrhythmias.[5]
Sudden death [1],[4] In hypertrophic cardiomyopathy there are extensive myocardial disarray in which numerous myocytes are arranged at a disorganized architecture Other than that there is small-vessel disease which is responsible for bursts of silent microvascular ischemia and myocyte death and ultimately repair as replacement fibrosis. These disorganization and scarring cause unstable electrophysiologicat state which lead to ventricular fibrilations.[5],[6]
Family history[1],[3] Hypertrophic cardiomyopathy inherited as a Mendelian autosomal dominant trait. Therefore family history of sudden cardiac death is an important factor.[1],[3]
References
  1. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 19 June 2014] Available from: doi:10.1001/jama.287.10.1308
  2. KNIGHT C., KURBAAN A. S., SEGGEWISS H., HENEIN M., GUNNING M., HARRINGTON D., FASSBENDER D., GLEICHMANN U., SIGWART U.. Nonsurgical Septal Reduction for Hypertrophic Obstructive Cardiomyopathy : Outcome in the First Series of Patients. Circulation [online] 1997 April, 95(8):2075-2081 [viewed 01 June 2014] Available from: doi:10.1161/​01.CIR.95.8.2075
  3. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 19 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680
  4. MARON B. J., ROBERTS W. C., EPSTEIN S. E.. Sudden death in hypertrophic cardiomyopathy: a profile of 78 patients. Circulation [online] 1982 June, 65(7):1388-1394 [viewed 19 June 2014] Available from: doi:10.1161/​01.CIR.65.7.1388
  5. CHANG HUAN J.. Hypertrophic Cardiomyopathy. JAMA [online] 2009 October [viewed 19 June 2014] Available from: doi:10.1001/jama.302.15.1720
  6. MARON B. J.. Contemporary Insights and Strategies for Risk Stratification and Prevention of Sudden Death in Hypertrophic Cardiomyopathy. Circulation [online] December, 121(3):445-456 [viewed 24 June 2014] Available from: doi:10.1161/​CIRCULATIONAHA.109.878579

Examination

Fact Explanation
Abnormal 'a' wave in jugular venous pulse[1] Occurs due to the right ventricular involvement.[1],[2]
Double apical thrust[1] This occurs due to the powerful contraction of left atrial against the non compliant left ventricle.[1],[2]
Reverse splitting of second heart sound(s2)[1] In this splitting of s2 occurs in expiration and pulmonary valve close before the aortic valve [1],[2]
Third(s3) and fourth(s4) heart sounds[1] s3 - Best heard at the apex, occurs due to the left ventricular dysfunction s4 - Left sided s4 which is often palpable is due to impaired left ventricular relaxation. Rarely right side s4 occurs in right ventricular dysfunction.[1],[2]
Systolic ejection murmur[1] In left ventricular dysfunction murmur best heard at the apex. Grade of the murmur vary with the degree of the left outflow tact obstruction. In right ventricular dysfunction murmur best heard at the left sternal edge. [1],[2]
References
  1. COHEN J, EFFAT H, GOODWIN JF, OAKLEY CM, STEINER RE. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY Br Heart J [online] 1964 Jan, 26(1):16-32 [viewed 19 June 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1018079
  2. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 19 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680

Differential Diagnoses

Fact Explanation
Subvalvular aortic senosis[1] If subvalvular aortic stenosis is present patient will have systolic ejection click with early diastolic murmur.[1]
Restrictive cardiomyopathy[1],[2],[3] A disease heart-muscle that results in impairment in ventricular filling, with decreased or normal diastolic volume of one or both ventricles. Systolic function, at least early in the disease, remains normal and wall thickness may be normal or increased, depending on the underlying cause. [2],[3]
Vasovagal syncope[4] Cardiac arrhythmia should be excluded by a electrocardiogram.[4]
Supravalvular aortic stenosis[5] Examination findings are thrusting apex and loud ejection systolic murmur. [5]
Glycogen Storage Disorders[6] In this condition cardiac hypertrophy and electrophysiologic deficits occur.[6]
References
  1. COHEN J, EFFAT H, GOODWIN JF, OAKLEY CM, STEINER RE. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY Br Heart J [online] 1964 Jan, 26(1):16-32 [viewed 19 June 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1018079
  2. KUSHWAHA SUDHIR S., FALLON JOHN T., FUSTER VALENTIN. Restrictive Cardiomyopathy. N Engl J Med [online] 1997 January, 336(4):267-276 [viewed 19 June 2014] Available from: doi:10.1056/NEJM199701233360407
  3. GARCIA MARIO J., RODRIGUEZ LEONARDO, ARES MIGUEL, GRIFFIN BRIAN P., THOMAS JAMES D., KLEIN ALLAN L.. Differentiation of constrictive pericarditis from restrictive cardiomyopathy: Assessment of left ventricular diastolic velocities in longitudinal axis by doppler tissue imaging. Journal of the American College of Cardiology [online] 1996 January, 27(1):108-114 [viewed 19 June 2014] Available from: doi:10.1016/0735-1097(95)00434-3
  4. Array. European Heart Journal [online] 2004 November, 25(22):2054-2072 [viewed 19 June 2014] Available from: doi:10.1016/j.ehj.2004.09.004
  5. WILLIAMS J. C. P., BARRATT-BOYES B. G., LOWE J. B.. Supravalvular Aortic Stenosis. Circulation [online] 1961 December, 24(6):1311-1318 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.24.6.1311
  6. ARAD MICHAEL, BENSON D. WOODROW, PEREZ-ATAYDE ANTONIO R., MCKENNA WILLIAM J., SPARKS ELIZABETH A., KANTER RONALD J., MCGARRY KATE, SEIDMAN J.G., SEIDMAN CHRISTINE E.. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J. Clin. Invest. [online] 2002 February, 109(3):357-362 [viewed 22 June 2014] Available from: doi:10.1172/JCI14571

Investigations - for Diagnosis

Fact Explanation
Echocardiogram (echo)[1],[2] Transthoracic echo or Doppler examination can determine the location and extent of hypertrophy, systolic and diastolic function, the presence and degree of systolic anterior motion, the severity of the subaortic and/or midventricular obstruction, the direction and degree of mitral regurgitation, the presence of additional mitral valve abnormalities,and size of the left atrium. These tests are used in diagnosing, planning of the treatment and assessing of the treatment.[1],[2]
Magnetic resonance imaging(MRI)[1],[2] To identify the site and extent of hypertrophy when 2D echo cannot detect them especially in apical hypertrophy. [1],[2]
Electrocardiogram(ECG)[1],[2] Changes may vary form no changes, mild changes to extensive changes with the degree of hypertrophy. Abnormal Q wave - septal hypertrophy, may mimic myocardial infarction. Giant T-negativity syndrome - apical hypertrophy. ECG changes can be seen in patients who does not show any echocardiographic changes.[1],[2]
Chest X-Ray[2] May be normal or show left ventricle or left atrial and/or right atrial enlargement with or without vascular redistribution in the lungs.[2]
Heart catheterization and angiography [2] Reserved for diagnosis, but diagnostic accuracy of echo/Doppler studies has dramatically lessened the need for invasive investigation.[2]
References
  1. MARON BARRY J. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 21 June 2014] Available from: doi:10.1001/jama.287.10.1308
  2. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680

Investigations - Fitness for Management

Fact Explanation
Echocardiogram(echo)[1],[2] Transthoracic echo/ Doppler examination can assess the systolic and diastolic function and planning of the treatment and assessing of the treatment.[1],[2]
Nuclear angiography[1],[2] To assess the systolic and diastolic ventricular function. [1],[2]
Electrophysiological investigation[1],[2] Used ambulatory monitoring for detection and assessment of treatment of all arrhythmias, particularly ventricular arrhythmias[1],[2]
References
  1. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680
  2. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 22 June 2014] Available from: doi:10.1001/jama.287.10.1308

Investigations - Followup

Fact Explanation
Echocardiogram(echo)[1],[2] Used to evaluate management by assessing systolic and diastolic function[1],[2]
Electrophysiological investigation[1],[2] used ambulatory monitoring for detection and assessment of treatment of all arrhythmias, particularly ventricular arrhythmias[1],[2]
References
  1. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680
  2. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 22 June 2014] Available from: doi:10.1001/jama.287.10.1308

Investigations - Screening/Staging

Fact Explanation
Ecocardiogram[1] These tests done in screening of first degree relatives of obstructive hypertrophic cardiomyopathy along with the detail history and physical examination.[1]
Electrocardiogram[1] These tests done in screening of first degree relatives of obstructive hypertrophic cardiomyopathy along with the detail history and physical examination.[1]
Genetic screening[1],[2] Hypertrophic cardiomyopathy inherited as a Mendelian autosomal dominant trait. [1],[2]
References
  1. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 21 June 2014] Available from: doi:10.1001/jama.287.10.1308
  2. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680

Management - General Measures

Fact Explanation
Management of arrhythmias[1],[2] Pharmacological rate control by sotalol, cardioversion and anticoagulation is used in initial management. Dual-chamber pacing/ myectomy / cardiac transplant should be used in further management. [1],[2]
References
  1. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 22 June 2014] Available from: doi:10.1001/jama.287.10.1308
  2. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680

Management - Specific Treatments

Fact Explanation
Medical managment [1], [2] Negative inotropic agents (β-blockers, calcium antagonists and disopyramide) have been used to decrease the degree of outflow obstruction.[1], [2]
Pacemaker therapy [1], [2] Dual-chamber (DDD) pacing is used to decrease the subaortic pressure gradient The mechanism is uncertain but may be related to decreased (or paradoxical) septal motion, late activation at the base of the septum with right ventricle apical pacing, or decreased left ventricle contractility.[1], [2]
Surgical therapy[1], [2] When patient is unresponsive to the medical therapy Septal Myectomy surgery can be performed. [1], [2]
Alternative therapy to surdery [2] Alcohol septal ablation technique - In this option 1-4 ml of absolute alcohol is introduce to the target septal perforator coronary branch to produce myocardial infarction. This causes a reduction in septal thickness. [2]
References
  1. WIGLE E. D., RAKOWSKI H., KIMBALL B. P., WILLIAMS W. G.. Hypertrophic Cardiomyopathy : Clinical Spectrum and Treatment. Circulation [online] 1995 October, 92(7):1680-1692 [viewed 22 June 2014] Available from: doi:10.1161/​01.CIR.92.7.1680
  2. MARON BARRY J.. Hypertrophic Cardiomyopathy. JAMA [online] 2002 March [viewed 22 June 2014] Available from: doi:10.1001/jama.287.10.1308