左心发育不全综合征伴15q11.2 BP1-BP2微缺失的右冠状动脉异常起源：一种新的关联

IF 1.3 4区医学 Q3 PATHOLOGY

Pediatric and Developmental Pathology Pub Date : 2024-12-17 DOI:10.1177/10935266241304856

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

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引用次数: 0

摘要

在超声心动图产前诊断为左心发育不全综合征（HLHS）的4日龄男孩中检测到15q11.2 （BP1-BP2）缺失。尸检显示右冠状动脉起源于肺动脉干（ARCAPT）。这种遗传缺陷已知会引起综合征表现，并被认为参与心血管缺陷，但据我们所知，以前没有报道过患有ARCAPT的HLHS有这种遗传缺陷。本病例提出了一种新的关联，并提示15q11.2缺失与综合征表现有关。有必要进一步研究这种遗传联系及其临床意义。

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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.

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.

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.