Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

Epidemiological studies have recently pointed out that a significant number of patients with congenital heart defects carry an association with genetic syndromes and/or with extracardiac malformations1,2. Genetic syndromes, sometimes related to a specific cardiac phenotype3, may influence the clinical course of patients with congenital heart diseases and in many cases may complicate the prognosis4-8. Conotruncal heart defects (CTHDs) represent 10-15% of congenital heart diseases2-4 and are frequently associated with genetic syndromes, in particular with deletion of chromosome 22 (del22q11) in the setting of DiGeorge velocardiofacial syndrome2,4,9-12. The “classic” CTHDs share the morphological architecture of the presence of ventricular outflow tract anomalies with normally related great arteries and include tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA) and interrupted aortic arch (IAA)1-4,11,12. Transposition of the great arteries and double outlet right ventricle (transposition complex), even though comprising some sort of outflow tract, differ from the “classic” CTHDs since the great arteries are parallel and transposed and because of a low prevalence of associated genetic syndromes and extracardiac malformations1-4,13. Recent studies have pointed out that the “classic” CTHDs may present a specific cardiac pattern if related to genetic syndromes9-17, but to date, only a few studies regarding the impact of genetic syndromes on surgical results have been published in the literature18,19. The aim of this prospective 5-year multicenter study is to determine the prognostic impact of genetic syndromes on the surgical in-hospital mortality in patients with “classic” CTHDs.