Isolated left ventricular apical hypoplasia: a case report

Isolated left ventricular apical hypoplasia is a rare and lesser-known form of cardiomyopathy characterized by specific findings on cardiac imaging. It is thought to be congenital in origin, with clinical features that can range from being asymptomatic to presenting with heart failure and arrhythmias.

A 43-year-old woman presented with chest pain and had previously undergone evaluation at another facility, including a 2D echocardiogram and computed tomography (CT) coronary angiography. These tests revealed a dilated left atrium and ventricle and reduced left ventricular function alongside a Type I left anterior descending artery. A cardiac magnetic resonance image (MRI) and review of the CT scan confirmed a diagnosis of isolated left ventricular apical hypoplasia. Guideline-directed medical therapy was initiated due to the initial presentation of left ventricular dysfunction.

Left ventricular apical hypoplasia is characterized by (i) a truncated, spherical, and impaired left ventricle (LV) with bulging of the interventricular septum towards the right ventricle (RV), (ii) fatty material in the apical region of the LV, (iii) abnormalities in the papillary muscles and trabecular structures, and (iv) elongation of the RV wrapping around the underdeveloped LV. Limited data is available on this condition, with only a few reported cases. Currently, no definitive guidelines exist, and management is tailored to the patient’s specific presentation, including treating heart failure and any arrhythmias that may arise. While the aetiology of this condition remains poorly understood, it is crucial to recognize it to prevent misdiagnosis and to encourage further research into its management.