Congenital heart diseases are common forms of malformation that are present at birth; those developmental defects result from embryogenetic anomalies occurring during gestational weeks 3 through 8, when major cardiovascular structures develop.
Congenital cardiac defects are associated with significant morbidity and mortality; the alterations involve the structure of the cardiac chambers or the great vessels (sometimes both) and even induce hemodynamic changes, compromising the systemic and pulmonary circulation.
Although a congenital heart disease is the number one cause of infant mortality during the first year of life, not all forms of major heart defects are clinically evident at birth or in the early neonatal period.
Approximately 1% of all live-born infants have a cardiac defect, however some reports indicate that about 25% of babies with severe forms of congenital heart disease are still discharged from hospital undiagnosed.
Early diagnosis of such babies would allow the prompt administration of an appropriate treatment and improve the prognosis, as well as reducing the morbidity associated with hemodynamic alterations.
Over the past 100 years, the development of sophisticated technologies has facilitated dramatic changes in the practice of cardiology for patients of all ages and any sort of heart disease. The ability of the cardiologist to make therapeutic decisions has increased significantly, and with it also the outcome of the diseases.
On the other hand, cardiac development occurs very early in gestation, during the first weeks, and the cause of most heart defects may remain unknown: it may or may not be associated with other anomalies, or with genetic syndromes, or chromosomal abnormalities.
Prenatal cardiac lesions may undergo progression in utero such that, with our current technology, they may be indistinguishable from the normal fetal heart early in gestation. Standard prenatal ultrasound may fail to show the presence of congenital heart disease in most fetuses. Thus, the development of adequate means for the diagnosis and observation of prenatal congenital heart disease remains a highly relevant clinical goal.
A correct and accurate prenatal diagnosis of congenital heart disease would have a significant positive impact on the clinical outcome of patients, the incidence of congenital cardiac malformations, the natural history of cardiac defects during gestation, and on the daily counseling for the families that bear the huge burden of their babies’ disease.
The Arrigo Recordati Prize in its sixth edition of 2011 will seek to identify a leading contributor in this highly relevant clinical area.