Echocardiographic characterization of left ventricular apical hypoplasia accompanied by a patent ductus arteriosus

Left ventricular (LV) apical hypoplasia is an unusual, recently identified cardiomyopathy, whose clinical course is uncertain. In this report, we describe a case of this cardiomyopathy occurring in an asymptomatic 50-year-old male with a remote history of a surgically corrected patent ductus arteriosus (PDA), primarily using transthoracic echocardiography (TTE) to illustrate the imaging characteristics. This patient had been referred to our institution for an abnormal electrocardiogram, and TTE subsequently (Figure 1) revealed a dilated left ventricle with moderately to severely reduced function; LV ejection fraction was 30% by two- and three-dimensional quantification. The left ventricle had a spherical appearance with a thin-walled, truncated, and akinetic distal LV. The right ventricle appeared elongated and was noted to wrap around the distal left ventricle, but right ventricular systolic function was normal. There were no significant valvular abnormalities, and no evidence of residual PDA flow. Subsequent cardiac magnetic resonance (CMR) imaging confirmed these findings (Figure 1). The TTE and CMR findings seen in this patient are consistent with LV apical hypoplasia. Until now, this cardiomyopathy has been described only as an isolated congenital anomaly primarily using CMR and cardiac computed tomography. To our knowledge, this is the first reported case of LV apical hypoplasia in conjunction with another congenital cardiac abnormality, and the findings demonstrate that the distinctive appearance of this cardiomyopathy can be easily identified with echocardiography. As more cases are recognized and patients are followed over time, the natural history and optimal treatment for this cardiomyopathy may be further elucidated.