New generation multislice CT technology has changed the approach to non-invasive assessment of congenital heart disease, in both paediatric and adult patients. This is mainly because of rapid advances in spatial and temporal resolution and in post-processing capability. At Hôpital Necker-Enfants Malades, CT with multiplanar and three-dimensional reconstruction has become a routine examination in the evaluation of congenital heart disease planning surgery, complex interventional catheterisations and for follow-up. It has proved to be an invaluable diagnostic and decision-aiding methodology in these situations, as a complement to echocardiography and, increasingly, as a substitute for diagnostic angiography (which is usually associated with higher-dose radiation and longer sedation times, as well as occasional morbidity). This review illustrates the current status of 64-slice CT in congenital heart diseases, including assessment of the aorta, the coronary arteries, the pulmonary arteries, the systemic and pulmonary veins, and other intra- and extracardiac malformations.

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. In this sense, the well-known association of typical CHDs in Down syndrome, 22q11.2 microdeletion and Noonan syndrome represent paradigms as chromosomal aneuploidy, chromosomal microdeletion and intragenic mutation, respectively. Area covered: For each syndrome the anatomical features, distinctive cardiac phenotype and molecular mechanisms are discussed. Moreover, the authors include recent genetic findings that may shed light on some aspects of still unclear molecular mechanisms of these syndromes. Expert commentary: Further investigations are needed to enhance the translational approach in the field of genetics of CHDs. When there is a well-established definition of genotype-phenotype (reverse medicine) and genotype-prognosis (predictive and personalized medicine) correlations, hopefully preventive medicine will make its way in this field. Subsequently a reduction will be achieved in the morbidity and mortality of children with CHDs.