Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation

Pediatr Cardiol. 2015 Dec;36(8):1774-7. doi: 10.1007/s00246-015-1250-1. Epub 2015 Sep 4.

Abstract

There is no clear consensus on optimal management of fetuses affected by familial hypertrophic cardiomyopathy (HCM). Intrauterine treatment of the condition has not been attempted in any standardized fashion. We report the case of a fetus treated by maternal propranolol during the third trimester after septal hypertrophy and diastolic dysfunction was diagnosed on fetal echocardiogram. The pregnancy went successfully to term, and fetal septal hypertrophy was noted to improve prior to delivery.

Keywords: Beta myosin mutation; Fetal echocardiography; Fetal hypertrophic cardiomyopathy; Propranolol.

Publication types

  • Case Reports

MeSH terms

  • Adrenergic beta-Antagonists / administration & dosage
  • Adult
  • Cardiac Myosins / genetics*
  • Cardiomyopathy, Hypertrophic, Familial / diagnostic imaging*
  • Cardiomyopathy, Hypertrophic, Familial / drug therapy*
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Echocardiography
  • Female
  • Fetus / abnormalities
  • Humans
  • Infant, Newborn
  • Mutation
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Pregnancy
  • Pregnancy Trimester, Third
  • Propranolol / administration & dosage
  • Term Birth

Substances

  • Adrenergic beta-Antagonists
  • MYH7 protein, human
  • Propranolol
  • Cardiac Myosins
  • Myosin Heavy Chains