Left ventricular apical hypoplasia: a case series and review of the literature

Left ventricular apical hypoplasia (LVAH) is a rare and newly characterized cardiomyopathy. No systemic and detailed case series were reported earlier. We report five patients diagnosed with left ventricular apical hypoplasia at our institute from 2004 to 2011. All the cases underwent clinical examination, eletrocardiography, chest X-ray, transthoracic echocardiography (TTE), and cardiac magnetic resonance imaging (CMRI). We described the clinical presentations, summarized the imaging characteristics of LV apical hypoplasia, and described the associated cardiac malformations. LVAH is characterized by a truncated, spherical left ventricle, without a normal apex; the true apex is occupied by the right ventricle. In addition, the atrioventricular valve anomalies, LV papillary muscle displacement, interventricular and/or interatrial septal bulge aneurysms and patent ductus arteriosus structures coexisted in these patients. LV apical hypoplasia has distinct appearances that can be easily identified on TTE and CMRI. TTE also could accurately define the associated cardiac abnormalities.