We describe two relatively asymptomatic cases diagnosed with the newly recognized unclassified cardiomyopathy, isolated left ventricular apical hypoplasia. The disease has been described mainly in cardiac magnetic resonance, whereas this study presents the echocardiographic characteristics of this new cardiomyopathy.
Two Caucasian female patients (patient 1, aged 11 years; and patient 2, aged 35 years) were routinely examined. Patient 1 was asymptomatic, and patient 2 had a history of peripartum pulmonary edema at the age of 31 years. They both showed abnormal resting 12-lead electrocardiogram with decreasing R wave in precordial leads beyond V3. Patient 1 had right-axis deviation, and patient 2 had left-axis deviation and P mitrale. Echocardiography revealed similar findings in both patients: 1) spherically truncated and mildly dilated left ventricle (LV) with bulging of the interventricular septum toward the right ventricle (RV) and highly echogenic and akinetic apex ( Figure 1 A, B); 2) abnormal origin of the papillary muscles from the flattened anteroapical region ( Figure 1 A; Videos 1-3 ); 3) mild-to-moderate decreased contractility with a restrictive filling pattern and mild mitral regurgitation; and 4) elongated, normally functioning RV wrapped around the deficient left ventricular apex ( Figures 1 , 2 , and 3 A ; Videos 2 and 3 ).
Coronary angiography revealed normal coronary arteries in both patients. Left and right ventriculography confirmed the spherical shape of the LV with a deficient apex substituted by the elongated normally functioning RV (Figures 3 B and 4 A , B). Cardiac magnetic resonance findings were consistent with those of echocardiography and angiography in both patients, whereas the hyperechogenic truncated LV apex shows almost transmural late enhancement ( Figure 4 C, D).