Missed Connections; A High Pressure Situation

Abstract

SESSION TITLE: Pediatrics and Congenital Cases SESSION TYPE: Affiliate Case Report Slide PRESENTED ON: Tuesday, October 27, 2015 at 07:30 AM - 08:30 AM INTRODUCTION: Congenital heart defects (CHD) may be diagnosed in utero, in the neonatal period, childhood, and less commonly in adulthood. We present a rare case manifesting in the fourth decade of life. CASE PRESENTATION: A 31 year-old athletic female with no significant past medical history presented with an insidious onset of symptoms including dyspnea on exertion in unusual situations like eating and being at high altitudes. She was an avid runner and recently ran a half marathon. An abnormal cardiac examination prompted an echocardiogram (ECHO) which suggested pulmonic valve stenosis, right ventricular (RV) dilatation and, mildly elevated RV pressure. PFT was normal and cardio-pulmonary exercise testing was inconclusive. Further evaluation with Cardiac MRI revealed severely dilated RV and a superior sinus venosus - atrial septal defect (ASD) with partial anomalous pulmonary venous return (PAPVR) of the right upper and middle lobe veins into the right superior vena cava (SVC) and a persistent left SVC. The shunt fraction was elevated at 2.0. While relatively asymptomatic, the high cardiac risk with planned pregnancy led to referral for surgical correction. She underwent closure of ASD and repair of PAPVR and left SVC. DISCUSSION: PAPVR is an extremely rare cardiovascular disease with abnormal return of one or more pulmonary veins directly or indirectly to the right atrium with an incidence of 0.7%. It is commonly associated with other defects like ASD (~80%) and Turner syndrome. Right upper or middle pulmonary veins are more commonly involved. Most patients are symptomatic with dyspnea on exertion and fatigue and present earlier in life. Some patients with PAPVC presents late as they eventually develop right-sided volume overload that leads to PAH and RV failure. Diagnostic workup includes ECHO which suggests unexpected right atrial or ventricular enlargement and sometimes less than 4 pulmonary veins seen entering the left atrium. Cardiac MRI is being increasingly used for diagnosis for visualization of defect and estimating shunt fraction. Elevated shunt fraction (>2) predisposes patient's to symptoms and recurrent infection. Surgical correction is the definitive treatment and is often recommended for select patients. CONCLUSIONS: This specific case highlights a rare and late presentation of CHD, attributable to our patient's superb physical conditioning and illustrates evaluation and indications for definitive surgical management of PAPVR. Reference #1: Tourmousoglou et al. Right upper lobe PAPVR Case Rep Vasc Med Feb 2014 DISCLOSURE: The following authors have nothing to disclose: Michael Warner, Puneet Agarwal, Daniel Fitelson, Ajeet Vinayak No Product/Research Disclosure Information