三名患有MYRF相关心脏-泌尿生殖系统综合征患者的起源于肺动脉的异常左冠状动脉。
Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.
作者信息
Becker Kristian C, Hirsch Russel, Critser Paul J, Miles Kimberley G, Ricci Marco, Monsberger Ryan, Weaver K Nicole, Ta Hieu T, Neal Ashley E
机构信息
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, The Heart Institute, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Department of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
出版信息
Pediatr Cardiol. 2025 Jan 9. doi: 10.1007/s00246-024-03743-y.
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).
心脏-泌尿生殖系统综合征（CUGS）是一种最近发现的遗传性疾病，其特征为泌尿生殖系统、膈肌、眼部及心脏异常，由髓磷脂调节因子（MYRF）基因的杂合致病变异引起。疾病特征和患病率的完整范围尚未明确。本报告记录了首例与MYRF相关的心脏-泌尿生殖系统综合征（MYRF-CUGS）中左冠状动脉起源于肺动脉（ALCAPA）的已知病例。
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