familial hypertrophic cardiomyopathy

Epidemiology: - prevalence in the general population is 0.2% Pathology: - ventricular hypertrophy, generally asymmetric & involves the interventricular septum Genetics: 1) heterogeneous, with inter- & intrafamilial variations 2) benign to malignant forms Clinical manifestations: - dyspnea - syncope - palpitations - angina pectoris - symptoms may be provoked by exercise Special laboratory: - screening with electrocardiogram & echocardiogram - all 1st degree relatives of patients with hypertophic cardiomyopathy - < 12 years of age, screening optional except if - symptomatic - family history of malignant tachyarrhythmia - child is competitive athlete in an intense training program - clinical suspicion of left ventricular hypertrophy - 12 to 18-21 years: every 12-18 months - > 18-21 years: - at least every 5 years, more requently if family history of malignant tachyarrhythmia - at symptom onset Complications: - high risk of cardiac failure & sudden cardiac death

Specific

familial hypertrophic cardiomyopathy, type 1 familial hypertrophic cardiomyopathy, type 2 familial hypertrophic cardiomyopathy, type 3 familial hypertrophic cardiomyopathy, type 4 familial hypertrophic cardiomyopathy, type 5 familial hypertrophic cardiomyopathy, type 6 familial hypertrophic cardiomyopathy, type 7 familial hypertrophic cardiomyopathy, type 8 familial hypertrophic cardiomyopathy, type 9 familial hypertrophic cardiomyopathy, type 10 familial hypertrophic cardiomyopathy, type 11 familial hypertrophic cardiomyopathy, type 12 hypertrophic cardiomyopathy with mid-LV chamber-1; cardiomyopathy hypertrophic with mid-left ventricular chamber type 1 (MVC1) hypertrophic cardiomyopathy, familial, cardiac troponin I mutation associated hypertrophic cardiomyopathy, familial, cav3 associated hypertrophic cardiomyopathy, familial, mid-left ventricular chamber type 2, ventricular myosin regulatory light chain-2 mutation associated hypertrophic cardiomyopathy, familial, mid-left ventricular chamber type, ventricular myosin essential light chain-3 mutation associated hypertrophic cardiomyopathy, familial, TCAP associated

General

genetic disease of the heart hypertrophic cardiomyopathy (HCM), including idiopathic hypertrophic subaortic stenosis (IHSS)