A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries

We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent...

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Autores principales: Su, Shixin, Xia, Shuliang, He, Ye, Li, Jianbin, Ma, Li, Chen, Xinxin, Li, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299261/
https://www.ncbi.nlm.nih.gov/pubmed/35872895
http://dx.doi.org/10.3389/fcvm.2022.939551
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author Su, Shixin
Xia, Shuliang
He, Ye
Li, Jianbin
Ma, Li
Chen, Xinxin
Li, Jia
author_facet Su, Shixin
Xia, Shuliang
He, Ye
Li, Jianbin
Ma, Li
Chen, Xinxin
Li, Jia
author_sort Su, Shixin
collection PubMed
description We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent ductus arteriosus, and atrial septal defect. She presented symptoms of acute congestive heart failure. Cardiac catheterization and surgical interventions were performed to repair the defects. The patient recovered uneventfully and grew up well at 3 years of follow-up. Whole-genome sequencing (WES) in the patient, compared to her parents, showed 17 variants within 11 genes. Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
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spelling pubmed-92992612022-07-21 A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries Su, Shixin Xia, Shuliang He, Ye Li, Jianbin Ma, Li Chen, Xinxin Li, Jia Front Cardiovasc Med Cardiovascular Medicine We report a unique case of an 18-day-old girl with three coronary artery fistulas to the right atrium and right ventricle, respectively: three collateral arteries arising from the descending aorta and one from the right subclavian artery draining through a sac to the top of the right atrium, patent ductus arteriosus, and atrial septal defect. She presented symptoms of acute congestive heart failure. Cardiac catheterization and surgical interventions were performed to repair the defects. The patient recovered uneventfully and grew up well at 3 years of follow-up. Whole-genome sequencing (WES) in the patient, compared to her parents, showed 17 variants within 11 genes. Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient. Frontiers Media S.A. 2022-07-06 /pmc/articles/PMC9299261/ /pubmed/35872895 http://dx.doi.org/10.3389/fcvm.2022.939551 Text en Copyright © 2022 Su, Xia, He, Li, Ma, Chen and Li. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Su, Shixin
Xia, Shuliang
He, Ye
Li, Jianbin
Ma, Li
Chen, Xinxin
Li, Jia
A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title_full A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title_fullStr A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title_full_unstemmed A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title_short A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries
title_sort phenotype and genotype case report of a neonate with congenital bilateral coronary artery fistulas and multiple collateral arteries
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299261/
https://www.ncbi.nlm.nih.gov/pubmed/35872895
http://dx.doi.org/10.3389/fcvm.2022.939551
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