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HOCM
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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
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Cardiovascular