A novel MYH7 gene mutation in a fetus with left ventricular noncompaction

Can J Cardiol. 2015 Jan;31(1):103.e1-3. doi: 10.1016/j.cjca.2014.11.012. Epub 2014 Nov 15.

Abstract

Left ventricular noncompaction (LVNC) is a recently defined cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. LVNC is rarely described in fetal life, and a small number of cases have been reported. We report the first fetal case, to our knowledge, of LVNC associated with a novel mutation in the MYH7 gene (c.1625A>C; p.Lys542Thr). This patient showed cardiomegaly on prenatal ultrasonographic examinations, with features indicating noncompaction of the myocardium apparent in the second trimester. This case highlights the importance of prenatal ultrasonography for the diagnosis of LVNC and suggests that abnormal myocardial development underlies the pathogenesis of LVNC.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Cardiac Myosins / genetics*
  • Cardiac Myosins / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Isolated Noncompaction of the Ventricular Myocardium / diagnosis
  • Isolated Noncompaction of the Ventricular Myocardium / embryology
  • Isolated Noncompaction of the Ventricular Myocardium / genetics*
  • Mutation*
  • Myocardium / metabolism
  • Myocardium / pathology*
  • Myosin Heavy Chains / genetics*
  • Myosin Heavy Chains / metabolism
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • MYH7 protein, human
  • DNA
  • Cardiac Myosins
  • Myosin Heavy Chains