Isolated left ventricular apical hypoplasia a case report

Abstract Background 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. Case Summary A 43-year-old woman presented with chest pain and had previously undergone evaluation at another facility, including a 2D echocardiogram and 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 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. Conclusion Left ventricular apical hypoplasia is characterised by: 1) a truncated, spherical, and impaired left ventricle (LV) with bulging of the interventricular septum toward the right ventricle (RV); 2) fatty material in the apical region of the LV; 3) abnormalities in the papillary muscles and trabecular structures; and 4) 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 etiology of this condition remains poorly understood, it is crucial to recognize it to prevent misdiagnosis and to encourage further research into its management.