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Sudden death / unusual collapse in young person - ? HOCM
autosomal dominant disorder of muscle tissue caused by defects in the genes encoding contractile proteins.
most common defects involve a mutation in the gene encoding β-myosin heavy chain protein or myosin binding protein C.
estimated prevalence is 1 in 500.
''Features''
often asymptomatic
dyspnoea, angina, syncope
sudden death (most commonly due to ventricular arrhythmias), arrhythmias, heart failure
jerky pulse, large 'a' waves, double apex beat
ejection systolic murmur: increases with Valsalva manoeuvre and decreases on squatting
''Associations''
Friedreich's ataxia
Wolff-Parkinson White
''Echo - mnemonic - MR SAM ASH''
mitral regurgitation (MR)
systolic anterior motion (SAM) of the anterior mitral valve leaflet
asymmetric hypertrophy (ASH)
''ECG''
left ventricular hypertrophy
progressive T wave inversion
deep Q waves
atrial fibrillation may occasionally be seen