Hypertrophic cardiomyopathy is a genetic condition that causes thickening of the heart muscle and can lead to sudden cardiac death, especially in young people. The most common cause of death is asymmetric septal hypertrophy causing obstruction of blood flow from the left ventricle. The degree of obstruction depends on preload and afterload and can be worsened by exercise or decreased preload. Echocardiogram is the primary diagnostic tool and treatment depends on severity, ranging from lifestyle changes to septal myomectomy or ablation surgery for more severe cases.
Hypertrophic cardiomyopathy is a genetic condition that causes thickening of the heart muscle and can lead to sudden cardiac death, especially in young people. The most common cause of death is asymmetric septal hypertrophy causing obstruction of blood flow from the left ventricle. The degree of obstruction depends on preload and afterload and can be worsened by exercise or decreased preload. Echocardiogram is the primary diagnostic tool and treatment depends on severity, ranging from lifestyle changes to septal myomectomy or ablation surgery for more severe cases.
Hypertrophic cardiomyopathy is a genetic condition that causes thickening of the heart muscle and can lead to sudden cardiac death, especially in young people. The most common cause of death is asymmetric septal hypertrophy causing obstruction of blood flow from the left ventricle. The degree of obstruction depends on preload and afterload and can be worsened by exercise or decreased preload. Echocardiogram is the primary diagnostic tool and treatment depends on severity, ranging from lifestyle changes to septal myomectomy or ablation surgery for more severe cases.
Hypertrophic cardiomyopathy is a genetic condition that causes thickening of the heart muscle and can lead to sudden cardiac death, especially in young people. The most common cause of death is asymmetric septal hypertrophy causing obstruction of blood flow from the left ventricle. The degree of obstruction depends on preload and afterload and can be worsened by exercise or decreased preload. Echocardiogram is the primary diagnostic tool and treatment depends on severity, ranging from lifestyle changes to septal myomectomy or ablation surgery for more severe cases.
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Hypertrophic cardiomyopathy is a cause of sudden cardiac death in young people and affect men and women
equally among all races. MCC of death is asymmetric septal hypertrophy causing outflow obstruction to the LV.
Etiology Familial HOCM is an autosomal dominant disorder resulting from gene mutation coding for sarcomere proteins such as B-myosin heavy chain, troponin, etc. Other causes include: increased sympathetic stimulation due to excess catecholamine secretions abnormal thickened coronaries that don’t dilate normally ongoing ischemia ventricle fibrosis compensatory hypertrophy
Epidemiology HOCM usually affects adults in 20s-30s however some may present in 40-60s
Pathophysiology HOCM is obstructive or nonobstructive. There is some asymmetric LVH. Clinical presentation depends on extent on hypertrophy, but usually affects the septum.
Obstruction is caused by MV leaflets being impinged
on a hypertrophied septum. The obstruction is dynamic and caused by a pressure gradient that pulls anterior leaflet of MV more anterior and worsens the obstruction. The degree of obstruction depends on CC and preload. In ¾ patients the obstruction can be brought along by provocative manoeuvres.
HOCM patients have abnormal diastole increased
LV pressure ventricular filling impaired obstruction worsened. Increased risk for myocardial ischemia because coronaries can’t be filled during diastole. These are MCC ventricular arrhythmias and SCD. Usually occurs from exercise (increased myocardial demand) but if severe, can happen during rest.
Histology Disorganized muscle fibers and fibrosis. Reduced diameter of coronary arteries.
History and physical
Ask about FHx of HOCM and SCD Dyspnea, syncope/presyncope, angina, palpitation, dizziness all worse with exertion CHF findings: PND, LE swelling, orthopnea
Exam: not definitive but look for…
Double carotids JVP with prominent A wave Laterally displaced apex beat that may be abnormally forceful Split S2, loud S4 MR like murmur: holosystolic at apex and axilla
Murmur should decrease with increased preload (squatting) or increased afterload (handgrip) increase ventricular volume LV outflow gradient decreased murmur soften Murmur should increase with decreased preload (Valsalva, diuretics, standing) decrease ventricular volume increase LV outflow increased Beta blockers do the same thing (increases ventricular volume)
Investigations Labs should be normal but if severe, elevated bnp Genetic testing for significant FHx only EKG: LVH, arrythmias (afib, non-sustained vt) CXR may be normal +/- LVH TTE: primary way of dx HOCM. Asymmetric septal wall thickness >15mm Systolic anterior motion of anterior MV leaflet Posterior wall >> anterior septal wall LVOT narrowing CMRI: gold standard for dx +/- cath to show LV anatomy, MR, patency of coronaries, degree of obstruction
Management Based on severity Mild – lifestyle modification avoid strenuous exercise and heavy lifting (low intensity aerobics) avoid sauna, hot tubs avoid excess EtOH and stimulants avoid dehydration caution in viagara Mild symptomatic BB or selective CCB. Avoid ACEI, nitrates as they decrease afterload worsening LVOT Avoid isuprel for same reason Surgical intervention if outflow gradient >50mmhg and don’t want medical or lifestyle changes Septal myomectomy – gold standard Alcohol septal ablation (injection of EtOH into septal coronaries, creating a targeted septal infarct) Screen 1st degree relatives
Prognosis/complications SCD mortality 1-6% Death from atrial or ventricular arrythmias Progressive disease CHF from severe DD
