Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrio...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2016/8013530 |
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| author | Kazushi Yasuda Eiji Morihana Naoki Fusazaki Shiro Ishikawa |
| author_facet | Kazushi Yasuda Eiji Morihana Naoki Fusazaki Shiro Ishikawa |
| author_sort | Kazushi Yasuda |
| collection | DOAJ |
| description | Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for. |
| format | Article |
| id | doaj-art-8a9db8b962604aa392c4c0fd4550a378 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-8a9db8b962604aa392c4c0fd4550a3782025-02-03T01:01:36ZengWileyCase Reports in Pediatrics2090-68032090-68112016-01-01201610.1155/2016/80135308013530Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case ReportsKazushi Yasuda0Eiji Morihana1Naoki Fusazaki2Shiro Ishikawa3Department of Neonatal Cardiology, Fukuoka Children’s Hospital, Fukuoka, JapanDepartment of Neonatal Cardiology, Fukuoka Children’s Hospital, Fukuoka, JapanDepartment of Neonatal Cardiology, Fukuoka Children’s Hospital, Fukuoka, JapanDepartment of Pediatric Cardiology, Fukuoka Children’s Hospital, Fukuoka, JapanBoth CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.http://dx.doi.org/10.1155/2016/8013530 |
| spellingShingle | Kazushi Yasuda Eiji Morihana Naoki Fusazaki Shiro Ishikawa Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports Case Reports in Pediatrics |
| title | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports |
| title_full | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports |
| title_fullStr | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports |
| title_full_unstemmed | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports |
| title_short | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports |
| title_sort | cardiovascular malformations in charge syndrome with digeorge phenotype two case reports |
| url | http://dx.doi.org/10.1155/2016/8013530 |
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