3例与myrf相关的心-泌尿生殖综合征患者的左冠状动脉与肺动脉异常

IF 1.5 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Pediatric Cardiology Pub Date : 2025-01-09 DOI:10.1007/s00246-024-03743-y

Kristian C Becker, Russel Hirsch, Paul J Critser, Kimberley G Miles, Marco Ricci, Ryan Monsberger, K Nicole Weaver, Hieu T Ta, Ashley E Neal

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引用次数: 0

摘要

心脏-泌尿生殖系统综合征（CUGS）是最近发现的一种遗传性疾病，其特征是由髓磷脂调节因子（MYRF）基因的杂合致畸变异引起的泌尿生殖系统、膈肌、眼和心脏异常。疾病的全部特征和流行程度尚未确定。本报告记录了第一例已知的myrf相关心脏-泌尿生殖系统综合征（MYRF-CUGS）左冠状动脉异常起源于肺动脉（ALCAPA）的病例。

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Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.

Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).

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来源期刊

Pediatric Cardiology 医学-小儿科

CiteScore

3.30

自引率

6.20%

发文量

258

审稿时长

12 months

期刊介绍： The editor of Pediatric Cardiology welcomes original manuscripts concerning all aspects of heart disease in infants, children, and adolescents, including embryology and anatomy, physiology and pharmacology, biochemistry, pathology, genetics, radiology, clinical aspects, investigative cardiology, electrophysiology and echocardiography, and cardiac surgery. Articles which may include original articles, review articles, letters to the editor etc., must be written in English and must be submitted solely to Pediatric Cardiology.