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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.939551/full |
| _version_ | 1811316247896260608 |
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| author | Shixin Su Shixin Su Shuliang Xia Shuliang Xia Ye He Ye He Jianbin Li Jianbin Li Li Ma Li Ma Xinxin Chen Xinxin Chen Jia Li Jia Li |
| author_facet | Shixin Su Shixin Su Shuliang Xia Shuliang Xia Ye He Ye He Jianbin Li Jianbin Li Li Ma Li Ma Xinxin Chen Xinxin Chen Jia Li Jia Li |
| author_sort | Shixin Su |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T11:46:41Z |
| format | Article |
| id | doaj.art-e59934a84a5e49b7940bd2d860093201 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-04-13T11:46:41Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-e59934a84a5e49b7940bd2d8600932012022-12-22T02:48:11ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2022-07-01910.3389/fcvm.2022.939551939551A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral ArteriesShixin Su0Shixin Su1Shuliang Xia2Shuliang Xia3Ye He4Ye He5Jianbin Li6Jianbin Li7Li Ma8Li Ma9Xinxin Chen10Xinxin Chen11Jia Li12Jia Li13Clinical Physiology Laboratory, Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaCardiovascular Surgery, Heart Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaDepartment of Pediatric Surgery, Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaCardiac Intensive Care Unit, Heart Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaCardiovascular Surgery, Heart Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaCardiovascular Surgery, Heart Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaClinical Physiology Laboratory, Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaGuangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong, ChinaWe 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.https://www.frontiersin.org/articles/10.3389/fcvm.2022.939551/fullcongenital heart defectcoronary artery fistulamultiple collateral arteriesDRC1whole-exome sequencing |
| spellingShingle | Shixin Su Shixin Su Shuliang Xia Shuliang Xia Ye He Ye He Jianbin Li Jianbin Li Li Ma Li Ma Xinxin Chen Xinxin Chen Jia Li Jia Li A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries Frontiers in Cardiovascular Medicine congenital heart defect coronary artery fistula multiple collateral arteries DRC1 whole-exome sequencing |
| 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 | congenital heart defect coronary artery fistula multiple collateral arteries DRC1 whole-exome sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2022.939551/full |
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