HOCM

Question 1

define

Answer 1

Hypertrophic obstructive cardiomyopathy (HOCM) is an autosomal dominant disorder of muscle tissue caused by defects in the genes encoding contractile proteins.

The most common defects involve a mutation in the gene encoding β-myosin heavy chain protein or myosin binding protein C. The estimated prevalence is 1 in 500.

Question 2

Features

Answer 2

• often asymptomatic
• dyspnoea, angina, syncope [DAS]
• 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

Question 3

Associations

Answer 3

Friedreich’s ataxia

Wolff-Parkinson White

Question 4

Echo - mnemonic - MR SAM ASH

Answer 4

1. mitral regurgitation (MR)
2. systolic anterior motion (SAM) of the anterior mitral valve leaflet
3. asymmetric hypertrophy (ASH)

Question 5

ECG changes seen?

Answer 5

• left ventricular hypertrophy
• progressive T wave inversion
• deep Q waves
• atrial fibrillation may occasionally be seen