Background: 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.
Conclusion: 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.
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