familial hypertrophic cardiomyopathy
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Epidemiology
- prevalence in the general population is 0.2%
Pathology
- ventricular hypertrophy, generally asymmetric & involves the interventricular septum
Genetics
- heterogeneous, with inter- & intrafamilial variations
- benign to malignant forms
Clinical manifestations
- dyspnea
- syncope
- palpitations
- angina pectoris
- symptoms may be provoked by exercise
Diagnostic procedures
- 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
More general terms
More specific terms
- 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