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

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

doi:10.1007/s00246-024-03743-y

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

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

University of Cincinnati

Research output: Contribution to journal › Article › peer-review

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).

Original language	English
Pages (from-to)	2567-2571
Number of pages	5
Journal	Pediatric Cardiology
Volume	46
Issue number	8
Early online date	9 Jan 2025
DOIs	https://doi.org/10.1007/s00246-024-03743-y
State	Published - Dec 2025
Externally published	Yes

Keywords

Angiography
Anomalous left coronary artery from the pulmonary artery
Cardiac MRI
Cardiac-Urogenital Syndrome
Congenital heart disease
MYRF mutation
Bland White Garland Syndrome/genetics
Urogenital Abnormalities/genetics
Humans
Coronary Vessel Anomalies/diagnosis
Abnormalities, Multiple
Male
Female
Pulmonary Artery/abnormalities

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10.1007/s00246-024-03743-y

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@article{9e2b801600724120805f02c46746af42,

title = "Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital 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).",

keywords = "Angiography, Anomalous left coronary artery from the pulmonary artery, Cardiac MRI, Cardiac-Urogenital Syndrome, Congenital heart disease, MYRF mutation, Bland White Garland Syndrome/genetics, Urogenital Abnormalities/genetics, Humans, Coronary Vessel Anomalies/diagnosis, Abnormalities, Multiple, Male, Female, Pulmonary Artery/abnormalities",

author = "Becker, \{Kristian C.\} and Russel Hirsch and Critser, \{Paul J.\} and Miles, \{Kimberley G.\} and Marco Ricci and Ryan Monsberger and Weaver, \{K. Nicole\} and Ta, \{Hieu T.\} and Neal, \{Ashley E.\}",

note = "{\textcopyright} 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2025",

month = dec,

doi = "10.1007/s00246-024-03743-y",

language = "English",

volume = "46",

pages = "2567--2571",

journal = "Pediatric Cardiology",

issn = "0172-0643",

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number = "8",

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T1 - Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome

AU - Becker, Kristian C.

AU - Hirsch, Russel

AU - Critser, Paul J.

AU - Miles, Kimberley G.

AU - Ricci, Marco

AU - Monsberger, Ryan

AU - Weaver, K. Nicole

AU - Ta, Hieu T.

AU - Neal, Ashley E.

PY - 2025/12

Y1 - 2025/12

N2 - 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).

AB - 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).

KW - Angiography

KW - Anomalous left coronary artery from the pulmonary artery

KW - Cardiac MRI

KW - Cardiac-Urogenital Syndrome

KW - Congenital heart disease

KW - MYRF mutation

KW - Bland White Garland Syndrome/genetics

KW - Urogenital Abnormalities/genetics

KW - Humans

KW - Coronary Vessel Anomalies/diagnosis

KW - Abnormalities, Multiple

KW - Male

KW - Female

KW - Pulmonary Artery/abnormalities

UR - https://www.scopus.com/pages/publications/85217203870

U2 - 10.1007/s00246-024-03743-y

DO - 10.1007/s00246-024-03743-y

M3 - Article

C2 - 39779519

AN - SCOPUS:85217203870

SN - 0172-0643

VL - 46

SP - 2567

EP - 2571

JO - Pediatric Cardiology

JF - Pediatric Cardiology

IS - 8

ER -

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

Abstract

Keywords

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