Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association.

• Tác giả: Diane G Brackett, Chrystalle Katte Carreon, Ibrahim Melik, Stephen P Sanders
• Ngôn ngữ: eng
• Ký hiệu phân loại: 785.13 *Trios
• Thông tin xuất bản: United States : Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2025
• Bộ sưu tập: NCBI
• ID: 715958

Tóm tắt

A 15q11.2 (BP1-BP2) deletion was detected in a 4-day-old boy who had hypoplastic left heart syndrome (HLHS) diagnosed prenatally by echocardiography. Postmortem examination revealed an anomalous origin of the right coronary artery from the pulmonary trunk (ARCAPT). This genetic defect is known to cause syndromic presentations and believed to participate in cardiovascular defects but to the best of our knowledge no HLHS with ARCAPT was reported to have this genetic defect before. This case presents a novel association and suggests involvement of the 15q11.2 deletion in a syndromic presentation. Further studies are necessary to explore this genetic link and its clinical implications.