Left ventricular non-compaction.

To cite: Steger CM. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013203430 DESCRIPTION In April 2011, a 13-month-old girl presented with dyspnoea, tachycardia and weight loss. Echocardiographic examination revealed a left ventricular non-compaction (LVNC), or spongy myocardium characterised by spongiform appearance of the left ventricle with deep recesses, a dilated left ventricle, a decreased left ventricular contractility, a grade 4 mitral valve regurgitation with dehiscence of the mitral valve leaflets and a grade 1 tricuspid valve insufficiency. There was no family history of LVNC; a gene mutation was not verified. Owing to the rapid progression of the heart failure and recurrent cardiac decompensation despite optimal medical treatment, the patient was listed high urgency for orthotopic heart transplantation, which was successfully performed in August 2011. Gross examination of the explanted heart showed a severe left ventricular dilation and endocardial fibrosis of the left ventricle with deep intertrabecular recesses (figures 1 and 2). The patient is currently in good general condition and shows normal stages of development. LVNC, first described by Engberding and Bender in 1984, is a rare congenital cardiomyopathy that is thought to result from an arrest in normal endomyocardial embryogenesis during cardiac partition at 5–8 weeks of fetal life. LVNC is characterised by an excessive number of deep trabeculations in the ventricular wall and intertrabecular recesses communicating with the left ventricular cavity. Although the disease is typically diagnosed in paediatric patients, the onset of symptoms can be delayed into adulthood. LVNC can be inherited as an autosomal or X-linked recessive disorder. Several gene mutations have been recently reported including LIM domain binding protein 3, α-dystrobrevin, tafazzin, lamin A/C, β-myosin heavy chain, α-cardiac actin, cardiac troponin T, troponin I, cardiac myosin binding protein C, SCN5A and tropomyosin 1. Diagnosis is usually established by the spongiform appearance on two-dimensional echocardiography and cardiac MRI. Multiple ventricular trabeculations, the presence of deep intertrabecular recesses and blood flow through the ventricular cavity and deep recesses are diagnostic. The Chin et al criteria focus on the depth of the recesses compared with the height of the trabecula, and the Jenni et al criteria underline the importance of the presence of a two-layered structure. Main symptoms are ventricular systolic dysfunction, heart failure, life-threatening arrhythmias and thromboembolic events, but the clinical spectrum ranges from asymptomatic patients to sudden cardiac death. 4 Differential diagnosis includes hypertrophic or dilated cardiomyopathy, arrhythmogenic rightventricular cardiomyopathy and endocardial fibroelastosis. The therapy consists of avoiding strenuous activities, treating chronic heart failure and administering antiarrhythmic drugs. Heart transplantation is the treatment of choice for patients with end-stage heart failure.