The Gerbode defect: the first case associated with a persistent left superior vena cava in the coronary sinus, described in a premature newborn

Abstract

Background: The Gerbode defect is an extremely rare type of congenital cardiac anomaly characterized by direct communication between the left ventricle (LV) and right atrium (RA), leading to a left-to-right shunt. It can be either congenital or acquired, and its clinical manifestations can range from completely asymptomatic presentation to heart failure. Transthoracic echocardiography is the preferred technique for its diagnosis, although the gold standard is transesophageal ultrasound. Surgery is often elective, but conservative treatment is possible in asymptomatic cases. 

Case presentation: A Caucasian female was born after 30 weeks of gestation, with a history of intrauterine growth restriction and suspected fetal cardiopathy. In response to her prematurity, she required non-invasive respiratory support and surfactant replacement. Echocardiography showed a persistent left superior vena cava in the coronary sinus, an atrial septal defect with a left-to-right shunt, and indirect signs of pulmonary hypertension. During her fourth day of life, the infant still showed respiratory distress and was difficult to wean from respiratory support. A second echocardiogram offered a hemodynamic explanation with the presence of a communication between the LV and RA, known as the Gerbode defect. The consequent pulmonary overflow required aggressive diuretic therapy for an extended period, which conferred clinical stability despite occasional signs of respiratory fatigue and feeding difficulties. When the child was 2 months old, she underwent palliative cardiac surgery with a pulmonary artery bandage, which was followed by corrective surgical intervention at 8 months of corrected age. 

Conclusions: To our knowledge, this is the first case of the Gerbode defect associated with a persistent left superior vena cava in the coronary sinus, described in a premature newborn. The complexity of the case is remarkable because several comorbidities were linked to the pulmonary immaturity of the patient.