Introduction: Congenital ventricular septal defect (VSD) has an incidence of 2-6 per 1000 births and is the second congenital cardiac malformation after bicuspid aortic valve. VSD can be perimembranous (80%), muscular, inlet (AV canal) and outlet (5-8%).
Objective: The purpose of this paper is to highlight the possibility of a late diagnosis in rare congenital cardiac malformations, with few symptoms.
Case presentation: We present the case of a 62 years old male, with no cardiovascular disease history, in whom the ambulatory transthoracic echocardiography (TTE), performed for the etiology of a syncope, show-ed a turbulent flow in the right ventricle (RV), near the aorta, with left to right shunt. The first diagnostic as-sumption was ruptured sinus of Valsalva aneurysm.
The patient presented for palpitations and synco-pe, which occurred one week before hospital admission. Clinical – blood pressure=120/70 mmHg, heart rate=70/minute, with premature atrial complexes (PACs); systolic murmur 2/6 in II – III left intercostal space and tricuspid area. ECG – sinus rhythm 70/mi-nute with atrial PACs isolated and short run of PACs, right bundle branch block . TTE shows turbulent flow in RV with left to right shunt, the origin of this flow is near right coronary cusp. The left chambers of the heart are normal sized, normal systolic function, dilated RV, tricuspid regurgitation (TR) grade II-III, maximum ve-locity=2,9 m/s, pulmonary regurgitation (PR) grade II. Transesophageal echocardiography (TEE) – turbulent flow in RV, aortic valve-RV direction, with origin near right coronary cusp, under pulmonary valve; this flow is separated from pulmonary regurgitation flow and is located close to this; moderate PR, moderate TR. Holter ECG monitoring reveals sinus rhythm with about 2158 PACs on 24 hours, isolated and short run. Biochemical – absence of inflammatory syndrome, normal myocar-dial enzyme, negative VDRL hyperlipoproteinemia. Conclusions: Differential diagnosis must be made with ruptured sinus of Valsalva aneurysm, right coro-nary artery – RV fistula and VSD outlet. Valsalva sinus rupture diagnostic is unsustainable by clinical features and excluded by the absence of the solution of continu-ity on right coronary sinus (where the turbulent flow is seen). The absence of myocardial ischemia (clinical, biochemical and ECG) do not support the hypothesis of right coronary artery-RV fistula. VSD outlet is a rare congenital malformation, with a difficult diagnosis, of-ten made by exclusion, because of its localization under aortic and pulmonary valve. The certain diagnosis of-ten needs several investigations (ventriculography, aor-tography, coronarography), to detect other associated malformations.