Early diagnosis of congenital heart disease: When and how to treat

Cardiovascular malformation is the most common group of congenital malformations. The prevalence is 5.3 cases per 1000 live births [1–3]. These malformations represent a significant cause of neonatal morbidity and mortality. Advances in medical and surgical treatment of congenital heart disease (CHD) have resulted in a trend towards an improved outcome in conditions which previously carried high mortality. The antenatal diagnosis of CHD, by fetal echocardiography carries important advantages: 1) prenatal diagnosis is associated with less hypoxia, preoperative acidosis, fewer neurologic events, and early age to surgery [4]; 2) it provides opportunities for parental counseling; 3) it may optimize perinatal care in terms of changes in obstetric and neonatal management with multidisciplinary approach which should reduce mortality and morbility [5,6]. Routine neonatal examination fails to detect many affected babies, because a normal examination does not exclude serious cardiac malformation, including hypoplastic left heart syndrome or other pathologies such as interruption or coarctation of the aortic arch. Considering that about half of the babies with cardiac murmur, detected over the first few days of life, have a structural heart disease [7], these patients should be referred for early pediatric cardiological evaluation and definitive diagnostic echocardiography. Unrecognized neonatal cardiac malformation carries a serious risk of avoidable mortality, morbidity and handicap [8]. Regardless of this, all syndromic babies such as Down syndrome-affected babies who have a high prevalence of congenital heart disease, should be referred for early echocardiographic examination [1]. The key point is that echocardiography is an essential tool in the evaluation of neonates and has dramatically improved the accuracy of diagnosis of congenital heart disease.