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The importance of preconception and prenatal genetic evaluation in heart transplant individuals and fetal and postnatal cardiac monitoring in their offspring

Published online by Cambridge University Press:  19 July 2018

Yin Liu ,
Matthew J. Bock  and
June-Anne Gold
Yin Liu*
Affiliation:
Department of Pediatrics, Division of Child Neurology, Loma Linda University Children’s Hospital, Loma Linda, CA, USA
Matthew J. Bock
Affiliation:
Department of Pediatrics, Division of Cardiology, Loma Linda University Children’s Hospital, Loma Linda, CA, USA
June-Anne Gold
Affiliation:
Department of Pediatrics, Division of Pediatric Genetics, Loma Linda University Children’s Hospital, Loma Linda, CA, USA
*
Author for correspondence: Y. Liu, MD, PhD, Department of Pediatrics, Division of Child Neurology, Loma Linda University Children’s Hospital, 11175 Campus Street, Coleman Pavilion Suite 11121, Loma Linda, CA 92354, USA. Tel: 909 651 5746; Fax: 909 558 0298; E-mail: liuyinscmc@gmail.com
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Abstract

A 24-year-old woman with a history of idiopathic dilated cardiomyopathy status post heart transplant gave birth to a healthy term female infant. At 5 months of age, the infant was diagnosed with severe left ventricular dysfunction with an ejection fraction of 18% and moderate non-compaction of the left ventricle. She received a heart transplant at 7 months of age. Familial dilated cardiomyopathy was diagnosed. Genetic testing revealed a likely pathogenic variant in the TPM1 gene. Fetal cardiac screening is critical for offspring of heart transplant recipients, especially when the reason for transplant was cardiomyopathy. Early genetic consultation and counselling is necessary for all heart transplant recipients, preferably prenatally. Postnatal screening of offspring is essential at birth, at 3-month intervals until 1 year of age, and then annually until the risk for familial cardiomyopathy is assessed.

Keywords

Fetal echocardiogram dilated cardiomyopathyheart transplantgenetic screeningmissed opportunity
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 11 , November 2018 , pp. 1356 - 1358
Copyright
© Cambridge University Press 2018 

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