Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital
Kristian C Becker1, Russel Hirsch2, Paul J Critser2
1Department of Pediatrics, Cincinnati Children's Hospital Medical Center, The Heart Institute, University of Cincinnati College of Medicine, Cincinnati, OH, USA. kristian.becker@cchmc.org.
Insights
Cardiac-Urogenital Syndrome (CUGS), a genetic disorder from MYRF gene variants, can present with rare heart defects. This study identifies anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) as a new feature of MYRF-CUGS.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Cardiac-Urogenital Syndrome (CUGS) is a rare genetic disorder.
- It is caused by pathogenic variants in the Myelin Regulatory Factor (MYRF) gene.
- The full clinical spectrum and prevalence of CUGS remain incompletely understood.
Purpose of the Study:
- To report the first documented cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in patients with MYRF-associated CUGS.
- To expand the known phenotypic spectrum of MYRF-related disorders.
Main Methods:
- Case report documentation.
- Clinical data review of patients diagnosed with MYRF-associated CUGS.
Main Results:
- Identified ALCAPA as a previously unrecognized cardiac anomaly in MYRF-CUGS.
- This finding highlights a significant cardiac manifestation within the CUGS spectrum.
Conclusions:
- ALCAPA should be considered in the cardiac evaluation of individuals with MYRF-associated CUGS.
- Further research is needed to define the prevalence and implications of ALCAPA in this syndrome.
Abstract:
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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