title: A novel MYH7 gene mutation in a fetus with left ventricular noncompaction.
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.
authors.affiliation: Department of Gynecology, Fukushima Medical University, Fukushima, Japan.
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Nomura
authors.affiliation: Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.
authors.forename: Nobuo
authors.initials: N
authors.lastname: Momoi
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Hirono
authors.affiliation: Department of Legal Medicine, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hata
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Asami
authors.initials: A
authors.lastname: Takasaki
authors.affiliation: Department of Legal Medicine, Graduate School of Medicine, University of Toyama, Toyama, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Nishida
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan. Electronic address: fukiko@med.u-toyama.ac.jp.
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
mesh_terms: D000328:Adult; D001706:Biopsy; D024722:Cardiac Myosins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology*; D018995:Myosin Heavy Chains / Q000235:genetics* / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C501641:MYH7 protein, human; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains