title: Genetic syndromes and congenital heart defects: how is surgical management affected?
abstract: 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.
authors.affiliation: Pediatric Cardiology and Cardiac Surgery, Policlinico 'S. Orsola-Malpighi', Bologna, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Formigari
authors.forename: Guido
authors.initials: G
authors.lastname: Michielon
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Gerardo
authors.initials: G
authors.lastname: Piacentini
authors.forename: Adriano
authors.initials: A
authors.lastname: Carotti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Giardini
authors.forename: Roberto M
authors.initials: RM
authors.lastname: Di Donato
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
mesh_terms: D030342:Genetic Diseases, Inborn / Q000601:surgery*; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics / Q000601:surgery*; D006801:Humans; D010641:Phenotype; D011183:Postoperative Complications; D011379:Prognosis; D012307:Risk Factors; D013577:Syndrome