Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation

J Thorac Cardiovasc Surg. 2014 Nov;148(5):e223-6. doi: 10.1016/j.jtcvs.2014.08.049. Epub 2014 Sep 6.

Authors

Keiichi Hirono¹, Yukiko Hata², Keijirou Ibuki³, Naoki Yoshimura⁴

Affiliations

¹ Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan. Electronic address: khirono1973@gmail.com.
² Department of Legal Medicine, Graduate School of Medicine, University of Toyama, Toyama, Japan.
³ Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
⁴ Department of 1st Surgery, Graduate School of Medicine, University of Toyama, Toyama, Japan.

PMID: 25444217
DOI: 10.1016/j.jtcvs.2014.08.049

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Cardiac Myosins / genetics*
DNA Mutational Analysis
Ebstein Anomaly / diagnosis
Ebstein Anomaly / genetics*
Ebstein Anomaly / surgery
Echocardiography, Doppler, Color
Female
Genetic Predisposition to Disease
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / surgery
Heart Septal Defects, Ventricular / diagnosis
Heart Septal Defects, Ventricular / genetics*
Heart Septal Defects, Ventricular / surgery
Heredity
Humans
Infant, Newborn
Male
Mutation, Missense*
Myosin Heavy Chains / genetics*
Pedigree
Phenotype

Substances

MYH7 protein, human
Cardiac Myosins
Myosin Heavy Chains

Supplementary concepts

Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects