P1499 A case of missing left ventricular apex

Abstract

Abstract Introduction Isolated left ventricle (LV) apical hypoplasia is a rare congenital anomaly. Echocardiographic diagnosis is challenging if one is not aware of this condition. It can masquerade as LV non-compaction or apical aneurysm. Multimodality imaging with cardiac magnetic resonance (CMR) can be useful to secure the diagnosis. Case description An asymptomatic 18-year-old man, with no significant personal or family medical history, was referred to cardiology clinic due to abnormal electrocardiogram (ECG) during routine cardiac screening. ECG showed right axis deviation and delayed precordial QRS-transition. He had excellent effort tolerance during treadmill exercise test (standard Bruce Protocol stage 6). Ambulatory ECG monitoring was within normal limits. Transthoracic echocardiogram showed a truncated appearance of LV apex with increased apical trabeculation, and bulging right ventricle apex (see image A and B). LV ejection fraction was preserved. The LV appearance was initially thought to be due to foreshortened apical view. A diagnosis of LV non-compaction cardiomyopathy was also inaccurately considered. He was further evaluated with CMR imaging. The study showed a truncated LV apex and apical insertion of the papillary muscles. RV apex was seen wrapping around the LV (see image C and D). Both the LV and RV function were normal. There was no late gadolinium enhancement (LGE). The morphological abnormalities were consistent with the diagnosis of isolated LV apical hypoplasia. Patient continued to be physically active and asymptomatic. Follow up CMR five years later showed similar findings of preserved biventricular functions and no fibrosis on LGE imaging. Discussion We described a rare case of isolated LV apical hypoplasia with longitudinal clinical and cardiac imaging follow up. Initial diagnosis from transthoracic echocardiogram was elusive, and supportive findings from CMR helped to secure the diagnosis. In the literature, the clinical presentation ranges from chest pain syndrome, arrhythmias, heart failure or as incidental finding during cardiac imaging, as in our case. It is commonly diagnosed as nonspecific cardiomyopathy when the clinician is not aware of this condition. Being a rare congenital anomaly, the prognosis is not well established. Our patient remained asymptomatic clinically with preserved biventricular function in his 5 years follow-up. Abstract P1499 Figure. Echo and CMR imaging