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

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.

Teen pregnancy in the setting of familial dilated cardiomyopathy: a case report

“…For an adolescent to seek out preconception counseling is unlikely as in our case, but if applicable, FDC patients would benefit from this counseling [ 17 ]. If pregnancy is found in the first or second trimester, appropriate care would involve a discussion with the patient of the risks and benefits of continuation of the pregnancy based on her clinical status and her management options.…”