familial hypertrophic cardiomyopathy

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
  • MKSAP20
    • after initial screening every 1-2 years in children & adolescents & every 3-5 years in adults or with a change in clinical status

Complications

• high risk of cardiac failure & sudden cardiac death

More general terms

• hypertrophic cardiomyopathy
• genetic disease of the heart

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