Can Functional Echocardiography be Useful in the Diagnosis of Congenital Heart Disease? Review of Two Cases of Transposition of Great Arteries

Abstract

Introduction: Congenital heart diseases represent the most frequent form of malformation and can be diagnosed by fetal echocardiography, neonatal screening or clinical signs. Whenever this is suspected, a pediatric cardiologist should be contacted, and comprehensive echocardiography performed. But the availability of a specialist for immediate implementation is not the reality of many services. As functional echocardiography is often carried out in neonatal units because of its utility in several clinical situations, we consider its usefulness in diagnosing congenital heart diseases. Case reports: we report two cases of transposition of the great arteries diagnosed by functional echocardiography. Case 1 was a premature neonate transferred to the neonatal unit with a suspected diagnosis of respiratory distress syndrome and sepsis without improvement with initial treatment. Functional echocardiography on admission allowed the diagnosis of transposition of the great arteries. Case 2 was a full-term neonate with early cyanosis, with functional echocardiography suggesting transposition of the great arteries and the images used for discussion with a specialist from a reference center, speeding up the transfer. Discussion: early recognition of critical heart disease is essential to improve prognosis. Diagnosis of these diseases can be performed by fetal echocardiography, neonatal screening and clinical signs. When congenital heart structural defect is likely, pediatric cardiologist should be consulted and comprehensive echocardiography promptly performed. Functional echocardiography has been performed in neonatal units with the aim of analyzing the patent ductus arteriosus and ventricular function, diagnosing cardiac tamponade and neonatal persistent pulmonary hypertension. As not all services have a pediatric cardiologist readily available, we considered whether functional echocardiography could help in the diagnostic conclusion through systematic analysis of cardiac images. Conclusion: we reinforce that comprehensive echocardiography performed by a specialist is the first option or performed as soon as possible when congenital heart disease is the main hypothesis.