TY - JOUR
T1 - Genetic syndromes and congenital heart defects
T2 - how is surgical management affected?
AU - Formigari, Roberto
AU - Michielon, Guido
AU - Digilio, Maria Cristina
AU - Piacentini, Gerardo
AU - Carotti, Adriano
AU - Giardini, Alessandro
AU - Di Donato, Roberto M.
AU - Marino, Bruno
PY - 2009/4
Y1 - 2009/4
N2 - The population of neonates and children with congenital heart defects presents about a 30% prevalence of associated genetic syndrome or additional extracardiac anomalies and may show an increased risk of death or major complication at cardiac surgery. Since a well-defined pattern of combined cardiac and extracardiac anomalies may be found in relation to specific genetic defects, correct understanding of the genetic issues may help improving diagnosis, surgical approach and final outcome of these patients. Hereby we review the medical and surgical issues correlated to the genetic asset in patients with congenital heart defects and genetic syndromes, including trisomy 21, deletion 22q11, Noonan/LEOPARD, Turner, Marfan and Williams syndromes. Recognition of specific surgical risk factors can lead to the preparation of specific diagnostic and perioperative protocols in order to reduce operative mortality and morbidity.
AB - The population of neonates and children with congenital heart defects presents about a 30% prevalence of associated genetic syndrome or additional extracardiac anomalies and may show an increased risk of death or major complication at cardiac surgery. Since a well-defined pattern of combined cardiac and extracardiac anomalies may be found in relation to specific genetic defects, correct understanding of the genetic issues may help improving diagnosis, surgical approach and final outcome of these patients. Hereby we review the medical and surgical issues correlated to the genetic asset in patients with congenital heart defects and genetic syndromes, including trisomy 21, deletion 22q11, Noonan/LEOPARD, Turner, Marfan and Williams syndromes. Recognition of specific surgical risk factors can lead to the preparation of specific diagnostic and perioperative protocols in order to reduce operative mortality and morbidity.
KW - Congenital heart disease
KW - Genetic syndromes
KW - Genotype-phenotype correlation
UR - http://www.scopus.com/inward/record.url?scp=62149141331&partnerID=8YFLogxK
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U2 - 10.1016/j.ejcts.2008.11.005
DO - 10.1016/j.ejcts.2008.11.005
M3 - Article
C2 - 19091590
AN - SCOPUS:62149141331
VL - 35
SP - 606
EP - 614
JO - European Journal of Cardio-thoracic Surgery
JF - European Journal of Cardio-thoracic Surgery
SN - 1010-7940
IS - 4
ER -