Ricerc@Sapienza

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients.

The great impact of genetic factors in the field of congenital heart disease (CHD) was highlighted about 30 years ago by the Baltimore-Washington Infant Study. Moreover, recent genetic studies have shown their importance not only in detecting the cause of some heart malformations, but also in improving their treatment and prognosis.
Three fields may be recognized in which genetic studies have enhanced our knowledge and ability to care for children with CHD:
• Reverse medicine includes genotype-phenotype correlations and the new diagnostic criteria to classify CHD.

Introduction: Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs.