Unroofed coronary sinus in a patient with neurofibromatosis type 1

Abstract

OBJECTIVE: To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus. CASE DESCRIPTION: Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axillary and groin regions. Her father had similar skin findings, suggesting the NF1 diagnosis. The cardiac evaluation by echocardiography disclosed an atrial septal defect of unroofed coronary sinus type. This cardiac finding was confirmed at surgery. The procedure consisted of the atrial septal defect repair with autologous pericardium. COMMENTS: NF1 is a common autosomal dominant disorder caused by mutations in the NF1 gene. Among the NF1 findings, congenital heart defects are considered unusual. In the literature review, there was no association between NF1 and unroofed coronary sinus, which is a rare cardiac malformation, characterized by a communication between the coronary sinus and the left atrium, resultant from the partial or total absence of the coronary sinus roof. It represents less than 1% of atrial septal defect cases. More reports are important to determine if this association is real or merely casual, since NF1 is a common condition.

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

“…Pulmonary vascular stenosis is more commonly seen accounting for a quarter of the cases. Other reported associated congenital heart defects have been coarctation of the aorta, unroofed coronary sinus, atrial septal defect, endocardial cushion defect, small left ventricular syndrome, aortic stenosis, ventricular septal defect, tricuspid atresia with d‐Transposition of Great Arteries, vascular ring, and tetralogy of Fallot (Bender et al, 2013; Leppävirta et al, 2018; Lin et al, 2000; Neiman et al, 1974; Ramanjam et al, 2006; Tonsgard, 2006). Isolated ventricular septal defect is seldom reported among series of congenital heart defects associated with NF1.…”