Impact of genetic studies on comprehension and treatment of congenital heart disease
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.
• Predictive medicine regards genotype-prognosis correlations to detect risk factors and to establish specific protocols and treatment.
• Preventive medicine can help to prevent the defect or to reduce its severity and complications.
This approach proved to be useful in CHD associated with genetic syndromes but it is also promising in isolated non-syndromic CHD.