Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus
ObjectiveCoronary artery fistula, defined as communication between a coronary artery and a great vessel or a cardiac chamber, is a relatively rare anomaly with an estimated incidence of 0.002% in the general population. It could be combined with a giant coronary artery aneurysm, with an incidence of...
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| Format: | Article |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.1048795/full |
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| author | Yongxuan Peng Jiajun Ye Yuejuan Xu Jihong Huang Yurong Wu Wei Liu Kai Bai Sun Chen Yanan Lu |
| author_facet | Yongxuan Peng Jiajun Ye Yuejuan Xu Jihong Huang Yurong Wu Wei Liu Kai Bai Sun Chen Yanan Lu |
| author_sort | Yongxuan Peng |
| collection | DOAJ |
| description | ObjectiveCoronary artery fistula, defined as communication between a coronary artery and a great vessel or a cardiac chamber, is a relatively rare anomaly with an estimated incidence of 0.002% in the general population. It could be combined with a giant coronary artery aneurysm, with an incidence of 5.9% of the total incidence rate of CAF in the general population. The pathogenesis of these two combined anomalies is not clear, and we aimed to detect whether genetic abnormalities underlie the pathogenesis of these rarely combined anomalies.Materials and methodsA 6-year-old patient with a diagnosis of the right coronary artery to right ventricle fistula combined with a giant right coronary artery aneurysm and patent ductus arteriosus underwent a surgical repair at our center. The diagnosis was confirmed by echocardiography, CT, and surgery. DNA was extracted from the peripheral venous blood samples of the patient and his mother after informed consent was obtained. Hematoxylin and Eosin (HE) and Alizarin red staining were performed on the excised coronary artery aneurysm. Exome sequencing and in silico analyses were performed to detect detrimental genetic variants.ResultsNo obvious abnormalities were found in the excised coronary artery aneurysm. A heterozygous truncated variant (NM_144573: c.G298T; p.G100X) in the NEXN gene and a missense variant (NM_001171: c.G1312A; p.V438M) in the ABCC6 gene were carried by the patient but not by his mother.ConclusionThe NEXN-truncated variant, NEXN-G100X, is associated with the development of coronary arteries and congenital coronary artery anomalies. |
| first_indexed | 2024-04-13T10:32:26Z |
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| language | English |
| last_indexed | 2024-04-13T10:32:26Z |
| publishDate | 2022-11-01 |
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| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-0f0bb31b3dbc4e0aa5011b9f54699db92022-12-22T02:50:09ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2022-11-01910.3389/fcvm.2022.10487951048795Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosusYongxuan Peng0Jiajun Ye1Yuejuan Xu2Jihong Huang3Yurong Wu4Wei Liu5Kai Bai6Sun Chen7Yanan Lu8Department of Pediatric Heart Center and Pediatric Cardio-Thoracic Surgery, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardio-Thoracic Surgery, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardio-Thoracic Surgery, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardio-Thoracic Surgery, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pediatric Heart Center and Pediatric Cardio-Thoracic Surgery, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaObjectiveCoronary artery fistula, defined as communication between a coronary artery and a great vessel or a cardiac chamber, is a relatively rare anomaly with an estimated incidence of 0.002% in the general population. It could be combined with a giant coronary artery aneurysm, with an incidence of 5.9% of the total incidence rate of CAF in the general population. The pathogenesis of these two combined anomalies is not clear, and we aimed to detect whether genetic abnormalities underlie the pathogenesis of these rarely combined anomalies.Materials and methodsA 6-year-old patient with a diagnosis of the right coronary artery to right ventricle fistula combined with a giant right coronary artery aneurysm and patent ductus arteriosus underwent a surgical repair at our center. The diagnosis was confirmed by echocardiography, CT, and surgery. DNA was extracted from the peripheral venous blood samples of the patient and his mother after informed consent was obtained. Hematoxylin and Eosin (HE) and Alizarin red staining were performed on the excised coronary artery aneurysm. Exome sequencing and in silico analyses were performed to detect detrimental genetic variants.ResultsNo obvious abnormalities were found in the excised coronary artery aneurysm. A heterozygous truncated variant (NM_144573: c.G298T; p.G100X) in the NEXN gene and a missense variant (NM_001171: c.G1312A; p.V438M) in the ABCC6 gene were carried by the patient but not by his mother.ConclusionThe NEXN-truncated variant, NEXN-G100X, is associated with the development of coronary arteries and congenital coronary artery anomalies.https://www.frontiersin.org/articles/10.3389/fcvm.2022.1048795/fullcoronary artery fistulacoronary artery aneurysmcoronary artery developmentNEXN geneABCC6 gene |
| spellingShingle | Yongxuan Peng Jiajun Ye Yuejuan Xu Jihong Huang Yurong Wu Wei Liu Kai Bai Sun Chen Yanan Lu Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus Frontiers in Cardiovascular Medicine coronary artery fistula coronary artery aneurysm coronary artery development NEXN gene ABCC6 gene |
| title | Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| title_full | Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| title_fullStr | Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| title_full_unstemmed | Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| title_short | Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| title_sort | two genetic variants in nexn and abcc6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus |
| topic | coronary artery fistula coronary artery aneurysm coronary artery development NEXN gene ABCC6 gene |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2022.1048795/full |
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