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

Yin Liu, Matthew J. Bock, June Anne Gold

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1356-1358
Number of pages3
JournalCardiology in the Young
Volume28
Issue number11
DOIs
StatePublished - Nov 1 2018
Externally publishedYes

Keywords

  • Fetal echocardiogram dilated cardiomyopathy
  • genetic screening
  • heart transplant
  • missed opportunity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

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