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Non-compaction cardiomyopathy is a rare myocardial disease that belongs to the non-classified congenital cardiomyopathies (1). Although the left ventricle is mainly affected, biventricular involvement has also been described in recent years (2). The clinical features of non-compaction cardiomyopathy are non-specific and can range from being asymptomatic to symptoms of arrhythmia, thromboembolism, and congestive heart failure (2). Non-compaction cardiomyopathy is a complicated disease that can be isolated or be associated with other anomalies, and these patients can present with concomitant pathological findings, including obstructive ventricular anomalies (3, 4), mitral cleft (5), ventricular septal defect (6), and atrial septal defect (7). In 2008, Wessels et al. (8) described a three generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism. The cardiac anomalies included ventricular non-compaction (mostly biventricular), secundum atrial septal defect, pulmonary valve stenosis, and conduction defects. The laterality sequence anomalies included left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia, and intestinal malrotation, all compatible with left isomerism (8). The authors described these individuals as a member of a new syndrome, which is inherited in an autosomal dominant pattern. A genome-wide linkage analysis suggested a linkage to chromosome 6p24.3–21.2 with a maximum LOD score of 2.7 at the marker D6S276. The linkage interval was located between the markers D6S470 (telomeric side) and D6S1610 (centromeric side) and overlapped with the linkage interval in another family with heterotaxy (8). Herein, we report a 45-year-old woman who had moderate mental retardation and biventricular non-compaction cardiomyopathy in association with other congenital heart malformations.

the anatolian journal of cardiology

Biventricular noncompaction cardiomyopathy with pulmonary stenosis, interatrial septal aneurysm, atrial septal defect, bradycardia and mental retardation in a single case: A case report