A 45-year-old man with chronic myeloid leukaemia was referred for cardiac evaluation before allogeneic bone-marrow transplantation. His medical history included isolated right ventricle (RV) dilatation discovered 10 years earlier, with episodes of right heart failure induced by severe postchemotherapy anaemia.
The electrocardiogram showed first-degree atrioventricular block, complete right bundle branch block and left atrial enlargement ( Fig. 1 ). Chest radiographs showed cardiomegaly and large bowel images in the area anterior to the heart ( Fig. 2 ). Transthoracic echocardiography showed isolated RV enlargement (53 mm) with normal ejection fraction. Left ventricle (LV) dimension and ejection fraction were normal. The RV/LV diameter ratio was 1.2. No atrial or ventricular septal defects or pericardial abnormality was seen. Systolic pulmonary pressure estimation was 45 mmHg. Pulmonary-to-systemic blood flow ratio (Qp/Qs) was 2.1 with no visible left-to-right shunt. Right heart catheterization showed normal pulmonary artery occlusion pressure (5 mmHg), normal mean pulmonary pressure (18 mmHg) and no sign of restrictive cardiomyopathy. Oximetric study demonstrated an oxygen saturation of 66% in the superior and inferior vena cava, 84% in the right atrium, 80% in the RV and 77% in the pulmonary artery. Qp/Qs was 1.6. A computed tomography scan showed the association of transdiaphragmatic hernia, partial apical agenesis of the pericardium, and sinus venosus atrial septal defect with abnormal pulmonary venous return ( Fig. 3 ).
