CHARGE syndrome and congenital heart diseases: systematic review of literature
CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was c...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2023-09-01
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| Series: | Monaldi Archives for Chest Disease |
| Subjects: | |
| Online Access: | https://www.monaldi-archives.org/index.php/macd/article/view/2661 |
| _version_ | 1797691055347335168 |
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| author | Maria Vincenza Polito Mario Ferraioli Alessandra Nocilla Guido Coppola Federica D'Auria Antonio Marzano Luca Barnabei Marisa Malinconico Eduardo Bossone Francesco Ferrara |
| author_facet | Maria Vincenza Polito Mario Ferraioli Alessandra Nocilla Guido Coppola Federica D'Auria Antonio Marzano Luca Barnabei Marisa Malinconico Eduardo Bossone Francesco Ferrara |
| author_sort | Maria Vincenza Polito |
| collection | DOAJ |
| description |
CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth aortic arch (PFAA). Demographic, clinical and outcome data were extracted and analyzed. Sixty-eight studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus (PDA) 26%, ventricular (VSD) 21%, atrial septal defects (ASD) 18%, tetralogy of Fallot 11%, aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). In-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients.
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| first_indexed | 2024-03-12T02:07:59Z |
| format | Article |
| id | doaj.art-2c19b4cf84d442f396e84905879950c5 |
| institution | Directory Open Access Journal |
| issn | 1122-0643 2532-5264 |
| language | English |
| last_indexed | 2024-03-12T02:07:59Z |
| publishDate | 2023-09-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Monaldi Archives for Chest Disease |
| spelling | doaj.art-2c19b4cf84d442f396e84905879950c52023-09-06T18:43:24ZengPAGEPress PublicationsMonaldi Archives for Chest Disease1122-06432532-52642023-09-0110.4081/monaldi.2023.2661CHARGE syndrome and congenital heart diseases: systematic review of literatureMaria Vincenza Polito0Mario Ferraioli1Alessandra Nocilla2Guido Coppola3Federica D'Auria4Antonio Marzano5Luca Barnabei6Marisa Malinconico7Eduardo Bossone8Francesco Ferrara9Division of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDepartment of Medicine, Surgery and Dentistry, University of Salerno, Baronissi (SA)Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi (SA)Division of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDivision of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDivision of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDivision of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDivision of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of SalernoDepartment of Public Health, Federico II University of NaplesDivision of Cardiology, "Cava de' Tirreni and Amalfi Coast" Hospital, Heart Department, University Hospital of Salerno CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth aortic arch (PFAA). Demographic, clinical and outcome data were extracted and analyzed. Sixty-eight studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus (PDA) 26%, ventricular (VSD) 21%, atrial septal defects (ASD) 18%, tetralogy of Fallot 11%, aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). In-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients. https://www.monaldi-archives.org/index.php/macd/article/view/2661CHARGE syndromepersistent fifth aortic archcongenital heart diseaseaortic disease |
| spellingShingle | Maria Vincenza Polito Mario Ferraioli Alessandra Nocilla Guido Coppola Federica D'Auria Antonio Marzano Luca Barnabei Marisa Malinconico Eduardo Bossone Francesco Ferrara CHARGE syndrome and congenital heart diseases: systematic review of literature Monaldi Archives for Chest Disease CHARGE syndrome persistent fifth aortic arch congenital heart disease aortic disease |
| title | CHARGE syndrome and congenital heart diseases: systematic review of literature |
| title_full | CHARGE syndrome and congenital heart diseases: systematic review of literature |
| title_fullStr | CHARGE syndrome and congenital heart diseases: systematic review of literature |
| title_full_unstemmed | CHARGE syndrome and congenital heart diseases: systematic review of literature |
| title_short | CHARGE syndrome and congenital heart diseases: systematic review of literature |
| title_sort | charge syndrome and congenital heart diseases systematic review of literature |
| topic | CHARGE syndrome persistent fifth aortic arch congenital heart disease aortic disease |
| url | https://www.monaldi-archives.org/index.php/macd/article/view/2661 |
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