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Noonan syndrome and pregnancy outcomes

Part of: Echocardiography

Published online by Cambridge University Press:  17 January 2022

Christopher A. Chow Open the ORCID record for Christopher A. Chow [Opens in a new window] ,
Katherine H. Campbell ,
Josephine C. Chou  and
Robert W. Elder
Christopher A. Chow*
Affiliation:
Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA
Katherine H. Campbell
Affiliation:
Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA
Josephine C. Chou
Affiliation:
Department of Cardiovascular Medicine, Yale School of Medicine, New Haven, CT, USA
Robert W. Elder
Affiliation:
Department of Cardiovascular Medicine, Yale School of Medicine, New Haven, CT, USA
*
Author for correspondence: C. Chow, MD, Yale School of Medicine, 15 York St., LLCI 0302, New Haven, CT 06510, USA. Tel: (925) 628-3504; Fax: 6502637390. E-mail: cachow6@gmail.com
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Abstract

Background:

Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease.

Study design:

We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness.

Results:

We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age.

Conclusions:

The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

Keywords

Genetic disordersNoonan syndromepulmonary stenosispreconception counsellingpregnancyl RASopathies
Type
Original Article
Information
Cardiology in the Young , Volume 32 , Issue 12 , December 2022 , pp. 1925 - 1929
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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