Isolated left ventricular apical hypoplasia, characterized by cardiac magnetic resonance imaging

A 17-year old female presented with atypical chest pain. Clinical examination and ECG was unremarkable but an echocardiogram demonstrated ‘unusual ventricular foreshortening’. Subsequent cardiac magnetic resonance imaging demonstrated all four characteristics of a rare primary cardiomyopathy. A truncated left ventricle (Panels A and B), spherical remodelling, and bulging of the inter-ventricular septum towards the right ventricle (Panels B, D, and E). RV apex formation with wrapping around of the RV apex around the deficient left ventricular apex (Panels A and B) and fatty replacement of the LV apex (Panels D, E and H). In this case, apical fat pad and additional apical fatty infiltration of the LV apex were clearly delineated by T1 mapping (Panel F) which to our knowledge has not been applied in this pathology before. Late gadolinium enhancement revealed mid-wall hyper-enhancement in the mid-ventricular septum (Panels D and E). Taken together these findings were diagnostic of left ventricular apical hypoplasia (LVAH) (Supplementary material online, Video 1).