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<p>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 (<i>MYRF</i>) 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 <i>MYRF</i>-associated Cardiac-Urogenital Syndrome (<i>MYRF</i>-CUGS).</p>

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

  • 期刊论文

  • 发表日期：

    2025年1月9日

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

摘要

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).