Abstract

Isolated left ventricular non-compaction is a rare, morphologically distinct primary genetic cardiomyopathy, which was first described in children, but is becoming increasingly recognised in adults. The most common clinical manifestations include heart failure, arrhythmias and embolic events, and in children it may be associated with facial dysmorphisms and Wolff–Parkinson–White syndrome. Misdiagnosis may occur through lack of awareness of the condition, but with increased vigilance detailed cardiac imaging can reliably differentiate isolated left ventricular non-compaction from other pathological causes of left ventricular dysfunction. This is important because the condition may be associated with significant morbidity and mortality, and genetic counselling and echocardiographic screening of first-degree relatives is recommended to detect asymptomatic cases.