77 Congenital Cardiac Disease in the Setting of Genetic Syndromes M Cristina Digilio, Giulio Calcagni, Marta Unolt, Paolo Versacci, Bruno Marino Abstract The majority of congenital heart defects (CHDs) occur as isolated malformations, while approximately 25% to 30% of them are associated with extracardiac anomalies in the setting of large or submicroscopic chromosomal anomalies, monogenic mendelian disorders, and genetic associations Some types of CHD, such as atrioventricular canal defect (AVCD) and conotruncal malformations (IAA), are more frequently found in association with genetic syndromes such as Down syndrome or deletion 22q11.2 syndrome, whereas other types are prevalently isolated defects (tricuspid atresia, transposition of the great arteries, pulmonary atresia) Nevertheless, all types of CHDs need to be evaluated by a clinical geneticist Specific genetic testing should be indicated in patients with extracardiac anomalies or familial recurrence of the disease In the last several years, knowledge in this area has been evolving dramatically, and advances in molecular testing are leading to the identification of an increased number of causes of syndromic and isolated CHDs The improvement in surgical repair of even the most challenging CHDs has allowed the survival of these patients, switching our perspective from an exclusively cardiac outcome to a multispecialist approach Several phenotype-genotype correlation studies suggest that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype In fact, the recognition of distinct cardiac anatomic subtype may help in suggesting accurate diagnoses and specific medical and surgical therapy A multidisciplinary approach, checked for the risk factors related to specific genetic syndromes, can be used in the patients’ treatment and follow-up, which can be confirmed by molecular testing Identification of specific syndromes has a dramatic impact of management, surgical outcomes, long-term outlook, and genetic counseling for future pregnancies Keywords Syndrome; Congenital cardiac disease; Chromosome; Gene; Phenotype; Genotype