Hypoplastic Left Heart Syndrome: Diagnosis, Care and Management From Fetal Life and Beyond

Abstract

Hypoplastic left heart syndrome (HLHS) accounts for 2% to 3% of all congenital heart disease but is responsible for 25% to 40% of all neonatal cardiac deaths. Although the exact genetic origins of HLHS have not been clearly defined, various genetic and chromosomal associations have been identified. Advancements in fetal echocardiography have resulted in accurate diagnosis of congenital heart disease. On the basis of physical examination findings, fetuses may be candidates for prenatal intervention. In general, after prenatal diagnosis of HLHS, parents are faced with 2 choices: termination or continuation of pregnancy. If pregnancy is continued to delivery, patients may choose comfort care, surgical palliation with the Fontan procedure, or transplantation. A once lethal congenital anomaly, HLHS has undergone a marked evolution in management and prognosis during the last several decades. With advancements in prenatal diagnosis, neonatal management, and surgical palliation, patient survival has drastically improved: at an experienced center, current survival rates are very high after the Norwood procedure, with high rates of overall freedom from death or transplantation through 20 years. With survival becoming more promising, the issues that now take precedence are neurodevelopmental outcomes, Fontan procedure complications, and quality of life. Although much progress has been made in caring for this patient population, HLHS remains a high-risk condition that requires lifelong medical follow-up and has significant long-term morbidity, affecting overall quality of life for patients and their families.