Hypoplastic left heart syndrome: Prenatal diagnosis, clinical profile, and management Danielle M. Blake, MD, Joshua A. Copel, MD, and Charles S. Kleinman, MD New Haven, Connecticut We diagnosed hypoplastic left heart syndrome, generally regarded as a lethal congenital heart defect, by fetal echocardiography in 20 pregnancies in the last 5 years. The clinical profile, management, and outcome of these pregnancies were reviewed. We found a 40% association of karyotype and extracardiac malformations. Elective abortion was performed in nine pregnancies. Two of seven live-born babies had early neonatal assessment and intervention as a result of in utero diagnosis and counseling. Prolonged survival was achieved in both infants. We conclude that prenatal diagnOSIs of the hypoplastic left heart syndrome necessitates complete evaluation of the fetus for associated genetic and extracardiac malformations. Prenatal diagnosis of this defect provides opportunities for in depth counseling of parents and obtaining informed consent for either postnatal intervention or nonintervention before the medical and emotional complexities associated with the neonatal intensive care setting are encountered. (AM J OSSTET GVNECOL 1991;165:529-34.)

Key words: Hypoplastic left heart syndrome, prenatal diagnosis, congenital heart disease

Hypoplastic left heart syndrome is a congenital heart defect that ranges in severity from critical aortic stenosis with nearly normal left ventricular and mitral valve dimensions to the most severe form in which both aortic and mitral valves are atretic and the left ventricle is absent or extremely underdeveloped. I It is the most common cause of death from heart disease during the first week of life. The greatest risk of dying occurs on day 3, at the time of ductal closure. 2. 3 If left untreated, it is a lethal cardiac malformation.' The prenatal diagnosis of hypoplastic left heart syndrome by fetal echocardiography has recently been well documented. 5. 7 The ability to diagnose this and other structural heart defects in utero is a major contribution of high-resolution ultrasonography to obstetric care. The antenatal diagnosis of hypoplastic left heart syndrome mandates counseling of the parents; it affects further evaluation and management plans during the remainder of the pregnancy and during postnatal care of the neonate. Although the in utero diagnosis of hypoplastic left heart syndrome has been reported and management of the neonate with this defect is well described,2., a comprehensive review of the clinical profile, management, and outcome of pregnancies diagnosed prenatally is lacking. In this article we present our center's 5-year experience with the prenatal diagFrom the Fetal Cardiovascular Center, Departments of Obstetncs and Gynecology, Pedzatrics, and Dzagnostzc Imagzng, Yale Umvemty School of Medicine. Received for publicatwn December 27, 1990; revISed March 11, 1991; accepted March 22, 1991. Reprint requests: Joshua A. Copel, MD, Sectzon of Maternal-Fetal Medlcme, Department of Obstetnc:' and Gynecology. Yale Umvenit,v School of Medicme, 333 Cedar St., New Haven, CT 06510

611 /29785

nosis of hypoplastic left heart and review the characteristics, management, and outcome of the affected pregnancies.

Material and methods All fetal echocardiograms obtained in the Fetal Cardiovascular Center at Yale University School of Medicine between January 1986 and December 1990 were reviewed. Indications for referral were factors known to be associated with increased risk for congenital heart disease in the fetus (Table I). At the time of study all patients underwent a detailed ultrasonographic examination followed by fetal echocardiography with 3.5 or 5.0 MHz transducers (model 77020AC, HewlettPackard, Andover, Mass.; Ultramark 9, Advanced Technology Laboratories, Bothell, Wash.). Fetal echocardiograms included two-dimensional views of the four chambers, long- and short-axis views of the ventricular outflow tracts and great arteries, and aortic and ductal arch views. Two-dimensional realtime examination was supplemented by pulsed and color flow Doppler as these systems became available. Pregnancies complicated by the prenatal diagnosis of hypoplastic left heart syndrome composed the study pupulation. Scans were performed hy a physician experienced in fetal cardiac ultrasonography and recorded on videotape for future review. Follow-up information was obtained from clinical or autopsy records from Yale-New Haven Hospital or by contacting the referring physicians. Parents were advised of the echocardiographic findings at the time of diagnosis. Management options for the pregnancy and postnatal period were explained. These included continuation of the pregnancy with either neonatal cardiac

529

530

Blake, Copel, and Kleinman

ScplClllbcl 19'11

Am.J O"'ICI (:, IIccol

Table I. Indications for fetal echocardiographv Familial n,k Pre\'lom chIld wIth congenital heart (hsea,e Father wIth congenital heart di;,ea,e (~elletic s\lldromes (Noonan. tuberom .,derosl;') Maternal n~k Congenital heart disea;,c DIabetes Teratogen exposure Fetal n.,k Smplclous four-chamber view Extracardiac llMlformation Chromosomal abnormality NOl1nnmune hydrop;, Arrhythmia

transplantation" or performance of a Norwood procedure or nonintervention with compa,sionate care of the baby after birth. Itl Patients were informed that termination of pregnancy was an option at