Left ventricular apical hypoplasia: Case report on cardiomyopathy and a history of sudden ‎cardiac death

Isolated left ventricular apical hypoplasia with several different unrecognized dimensions is a newly discovered congenital anomaly of the heart.
CASE REPORT: In this report, we describe a case of cardiomyopathy of this type occurring in a 13-year-old male with a history of mental retardation and sudden cardiac death (SCD) of second-degree relatives. The patient was referred for an evaluation of cardiac status. An echocardiography analysis demonstrated a spherical left ventricle (LV) appearance with mild mitral regurgitation. Cardiac magnetic resonance imaging (MRI) confirmed a spherical and truncated LV appearance. The right ventricle was found to have elongated and wrapped around the LV, and diverticulum was also seen in the cardiac MRI.
To the best of our knowledge, this is to present the first case of LV apical hypoplasia combined with LV diverticulum and a family history of SCD. As more cases featuring this cardiomyopathy type are recognized, it will be easier to elucidate the natural history and management of such cardiac anomalies.