Fetal Diagnosis of Hypoplastic Left Heart, Associations and Outcomes in the Current Era

Abstract

Purpose: Hypoplastic left heart (HLH) is one of the most common forms of cardiac abnormality detectable during gestation by fetal echocardiography. Antenatal diagnosis allows for appropriate counseling and time to consider treatment options. We report the actual outcome data after fetal diagnosis of HLH.

Materials and Methods: Retrospective analysis of the outcome in all cases with HLH from 1994 – 2011 presenting in fetal life at two tertiary referral centers for prenatal diagnosis and pediatric cardiology.

Results: 105 cases were included and the overall survival is 40.9 % (43/105) after prenatal diagnosis. There was an 81.1 % survival rate in infants undergoing surgery and a 64.1 % survival rate from an intention-to-treat position. Two neonates died due to tamponade and cardiac arrest following balloon septostomy and one neonate from sepsis before surgery. Extracardiac anomalies occurred in three fetuses, and karyotype anomalies in seven fetuses (18.9 %). In 4 of 5 babies born with additional extracradiac or karyotype anomalies, parents opted for compassionate care. The first had trisomy 13, the second had trisomy 18, the third neonate presented with spina bifida, and the fourth presented with hydronephrosis and pulmonary atresia. Termination of pregnancy took place in 17 cases (16.1 %).

Conclusion: Thorough antenatal evaluation should include karyotyping, detailed extracardiac and intracardiac assessment to accurately predict the risks of surgery. Prenatal counseling might be modified after the exclusion of additional anomalies. These data provide up-to-date information for parental counseling.

Zusammenfassung

Ziel: Das hypoplastische Linksherz (HLH) ist eine der häufigsten angeborenen Herzfehlbildungen, die durch fetale Echokardiografie in der Schwangerschaft diagnostiziert werden können. Die pränatale Diagnose erlaubt eine detaillierte Beratung der Eltern. In der vorliegenden Arbeit werden aktuelle Outcome-Daten nach pränataler Diagnose eines HLH vorgelegt.

Material und Methoden: Retrospektive Analyse aller Fälle mit einer pränatalen Diagnose eines HLH zwischen 1994 – 2011 an 2 tertiären Zentren für pränatale Diagnostik und pädiatrischer Kardiologie.

Ergebnisse: 105 Fälle wurden eingeschlossen. Die Gesamtüberlebensrate nach pränataler Diagnose ist 40.9 % (43/105). Das Überleben nach operativer Therapie ist 81,1 % und 64,1 % in den Fällen mit beabsichtigter Therapie. Vor der operativen Therapie verstarben 2 Neugeborene an einer Herzbeuteltamponade mit Herzstillstand nach einer Ballon-Septostomie und ein Neugeborenes verstarb an einer Sepsis. Extrakardiale Anomalien wurden in 3 Fällen, chromosomale Anomalien in 7 Fällen (18.9 %) diagnostiziert. In 4 von 5 Neugeborenen mit extrakardialen und chromosomalen Anomalien entschieden sich die Eltern für eine Compassionate Care, in einem Fall mit Trisomie 13 und in einem weiteren Fall mit Trisomie 18, in einem weiteren Fall mit Spina bifida und ein weiteres Neugeborenes mit Hydronephrose und Pulmonalklappenatresie. Ein Schwangerschaftsabbruch wurde in 17 Fällen (16,1 %) registriert.

Schlussfolgerung: Die exakte pränatale Untersuchung bei Vorliegen eines HLH sollte eine Karyotypisierung und die Analyse extrakardialer und intrakardialer assoziierter Anomalien beinhalten, um das Risiko des operativen Eingriffs besser einschätzen zu können. Mit Fortgang der Schwangerschaft und Ausschluss zusätzlicher Anomalien kann die Beratung angepasst werden. Die vorgestellten Daten können als Grundlage der elterlichen Beratung herangezogen werden.

Key words

hypoplastic left heart - prenatal diagnosis - extracardiac anomalies - karyotype

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