Document Type : Case Report


1 ‎Assistant Professor, Rajaie Cardiovascular Medical and Research Center, Iran University of ‎Medical Sciences, Tehran, Iran

2 ‎Cardiologist, Cardiovascular Research Center, School of Medicine, Mashhad University of ‎Medical Sciences, Mashhad, Iran

3 ‎Student of Medicine, Department of Medical Sciences, School of Medicine, Islamic Azad ‎University, Mashhad Branch, Mashhad, Iran

4 ‎Student of Medicine, Cardiac Surgery Research Committee‏ ‏AND Student Research ‎Committee, Mashhad University of Medical Sciences, Mashhad, Iran


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. DISCUSSION: 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.