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

Ibrahim Melik; Diane G Brackett; Stephen P Sanders; Chrystalle Katte Carreon

doi:10.1177/10935266241304856

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

Pediatr Dev Pathol. 2024 Dec 17:10935266241304856. doi: 10.1177/10935266241304856. Online ahead of print.

Authors

Ibrahim Melik^{1

2}, Diane G Brackett^{3

4}, Stephen P Sanders^{1

5}, Chrystalle Katte Carreon^{1

4

6}

Affiliations

¹ The Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA.
² Tanta University, Tanta, Egypt.
³ Department of Pathology, Massachusetts General Hospital and Cambridge Health Alliance, Boston, MA, USA.
⁴ Department of Pathology, Harvard Medical School, Boston, MA, USA.
⁵ Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
⁶ Department of Pathology, Boston Children's Hospital, Boston, MA, USA.

PMID: 39690518
DOI: 10.1177/10935266241304856

Abstract

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.

Keywords: 15q11.2 deletion; ARCAPT; Burnside-Butler syndrome; HLHS; anomalous origin of the right coronary artery from pulmonary trunk; congenital heart disease; hypoplastic left heart syndrome.