Sinus venosus atrial septal defect with partial anomalous pulmonary vein return, diagnostic approach of this rare entity.

Abstract

We report a 44-year-old patient, who was initially referred for routine cardiac evaluation, because of family history of sudden cardiac death and a probable new onset of a right bundle branch block (RBBB) on a regular electrocardiogram (ECG) (fig. 1). He stated that he had no cardiac or pulmonary symptoms. In particular, he denied previous unexpected syncope, palpitations or chest pain. On transthoracic echocardiography, a normal left ventricular ejection fraction of 55% was found without any wall motion abnormalities. Furthermore, dilatation of the right ventricle with systolic dysfunction was found (fractional area change FAC 33%) with preserved longitudinal function (tricuspid annular plane systolic excursion TAPSE 24 mm, S’ 14 cm/s) (fig. 2). The patient had a family history of a sudden cardiac death and the possibility of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) was initially raised. Advanced cardiac imaging was performed for further evaluation. Cardiovascular magnetic resonance imaging (CMR) (figs 3 and 4) revealed a significant left to right shunt (Qp:Qs = 2:0) caused by a superior sinus venous defect with an anomalous right upper and right middle pulmonary vein connection, as shown in the special CTbased, 3D reconstructed pictures (figs 5 and 6). Furthermore, consistent with the initial echocardiography findings significant right ventricle dilatation and decreased systolic function were detected (fig. 7). The transoesophageal echocardiography showed a partial anomalous connection of the right upper pulmonary vein into the superior vena cava and, in addition, a Department of Cardiology, Kantonsspital Aarau AG, Switzerland; b Department of Radiology, Kantonsspital Aarau AG, Switzerland renata Wojtala, andres spirigb, Tim ohletzb, laurent m. Haegelia, Tobias a. Fuchsa Sinus venosus atrial septal defect with partial anomalous pulmonary vein return diagnostic approach to this rare entity