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

Autor: Nomura Y; Department of Gynecology, Fukushima Medical University, Fukushima, Japan., Momoi N; Department of Pediatrics, Fukushima Medical University, Fukushima, Japan., Hirono K; Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan., Hata Y; Department of Legal Medicine, Graduate School of Medicine, University of Toyama, Toyama, Japan., Takasaki A; Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan., Nishida N; Department of Legal Medicine, Graduate School of Medicine, University of Toyama, Toyama, Japan., Ichida F; Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan. Electronic address: fukiko@med.u-toyama.ac.jp.
Jazyk: angličtina
Zdroj: The Canadian journal of cardiology [Can J Cardiol] 2015 Jan; Vol. 31 (1), pp. 103.e1-3. Date of Electronic Publication: 2014 Nov 15.
DOI: 10.1016/j.cjca.2014.11.012
Abstrakt: 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.
(Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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