https://doi.org/10.4081/monaldi.2023.2661
CHARGE syndrome and congenital heart diseases: systematic review of literature
Submitted: June 11, 2023
Accepted: August 18, 2023
Published: September 6, 2023
Accepted: August 18, 2023
Abstract Views: 1444
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SUPPLEMENTARY MATERIAL: 2
SUPPLEMENTARY MATERIAL: 2
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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 AA (PFAA). Demographic, clinical and outcome data were extracted and analyzed. A total of 68 studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus 26%, ventricular 21%, atrial septal defects 18%, tetralogy of Fallot 11%, and 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%). The 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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How to Cite
Polito, Maria Vincenza, Mario Ferraioli, Alessandra Nocilla, Guido Coppola, Federica D’Auria, Antonio Marzano, Luca Barnabei, Marisa Malinconico, Eduardo Bossone, and Francesco Ferrara. 2023. “CHARGE Syndrome and Congenital Heart Diseases: Systematic Review of Literature”. Monaldi Archives for Chest Disease 94 (3). https://doi.org/10.4081/monaldi.2023.2661.
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