A case difficult to diagnose in adults: High sinus venous atrial septal defect

Abstract

Sinus venous atrial septal defect (SVD) is highly difficult to diagnose because of its location. Below, we report a case of SVD which is misdiagnosed as pulmonary hypertension and anomalous pulmonary venous return. A 57-year-old female patient was referred to congenital disease outpatient clinic of a tertiary center. She was admitted to the hospital with complaints of fatigue and exercise dyspnea which had started a year ago. She had transthoracic echocardiography (TTE) examination done in another hospital which showed dilated right heart chambers and pulmonary hypertension. She underwent transesophageal echocardiography (TEE) examination with the suspicion of atrial septal defect (ASD), but no defect was seen. As her symptoms persisted, we repeated the TTE and TEE examination in our center. TEE revealed 0.6 cm ASD on the upper side of the interatrial septum. All four pulmonary veins were draining into the left atrium. Right heart catheterization (RHC) confirmed the diagnosis. A left-to-right shunt was detected and localized by a significant step-up in blood oxygen saturation found between mid and upper segments of the right atrium. According to our TEE and RHC results, we planned the surgical closure of the defect. Sinus venous ASD is deficiency of the superior portion of atrial septum adjacent to superior vena cava. Diagnosis of SVD is often more difficult than other forms of ASD and may require special imaging such as TEE, magnetic resonance imaging, or computed tomographic scanning. In conclusion, cardiologists must be aware about the possibility of SVD patients who have unexplained exertional dyspnea and fatigue, dilated right atrium and ventricle, pulmonary hypertension, paradoxical embolism, or atrial arrhythmias in their respective populations.