Fetal Echocardiography is Useful for Screening Fetuses with a Family History of Cardiomyopathy

Pediatr Cardiol. 2020 Dec;41(8):1766-1772. doi: 10.1007/s00246-020-02439-3. Epub 2020 Aug 25.

Abstract

We screened all fetal echocardiograms performed at our institution for the past 5 years for the indication of family history of cardiomyopathy. Twenty-six patients were identified who had fetal echocardiograms performed due to a family history of cardiomyopathy. Three out of 26 patients (11.5%) had findings of decreased ventricular function and dilation consistent with cardiomyopathy. All who had cardiomyopathy on fetal echocardiography had parents with genetic mutations (2 maternal, 1 paternal), including one mother who had a cardiac transplant at age 8 for dilated cardiomyopathy. All 3 affected infants had prenatal planning for high level care and were transferred to our facility immediately after birth for cardiology evaluation and management. 2 patients required inotropic support in the newborn period. One patient was transplanted at age 2 months. One patient required ECMO support for one week and initially recovered, but subsequently required mechanical support and listing for heart transplant. We recommend patients with a strong family history of cardiomyopathy in either parent, especially those with known genetic mutations associated with cardiomyopathy, have fetal echocardiograms performed.

Keywords: Cardiomyopathy; Fetal echocardiography; Non-compaction cardiomyopathy; Screening.

MeSH terms

  • Cardiomyopathies / diagnostic imaging*
  • Cardiomyopathy, Dilated / diagnostic imaging
  • Echocardiography / methods*
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetus / diagnostic imaging
  • Heart Transplantation
  • Heart Ventricles / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Medical History Taking
  • Pregnancy
  • Prenatal Diagnosis