Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly
AV Postma, K Van Engelen… - Circulation …, 2011 - Am Heart Assoc
Background—Ebstein anomaly is a rare congenital heart malformation characterized by
adherence of the septal and posterior leaflets of the tricuspid valve to the underlying …
adherence of the septal and posterior leaflets of the tricuspid valve to the underlying …
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
AMC Vermeer, K Van Engelen… - American Journal of …, 2013 - Wiley Online Library
Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy,
characterized by prominent trabeculations with deep intertrabecular recesses in mainly the …
characterized by prominent trabeculations with deep intertrabecular recesses in mainly the …
[HTML][HTML] Ebstein's anomaly: genetics, clinical manifestations, and management
SM Yuan - Pediatrics & Neonatology, 2017 - Elsevier
Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be
related to the mutations in myosin heavy chain 7 and NKX2. 5, among others. Asymptomatic …
related to the mutations in myosin heavy chain 7 and NKX2. 5, among others. Asymptomatic …
Left heart lesions in patients with Ebstein anomaly
CHA Jost, HM Connolly, PW O'Leary, CA Warnes… - Mayo Clinic …, 2005 - Elsevier
OBJECTIVE To identify the incidence of left heart abnormalities in patients with Ebstein
anomaly, recognizing that left-sided lesions in this patient group have been overlooked …
anomaly, recognizing that left-sided lesions in this patient group have been overlooked …
Familial biventricular myocardial noncompaction associated with Ebstein's malformation
M Šinkovec, M Koželj, T Podnar - International journal of cardiology, 2005 - Elsevier
BACKGROUND: Noncompaction of the ventricular myocardium is a rare congenital
cardiomyopathy characterized by numerous excessively prominent trabeculations and deep …
cardiomyopathy characterized by numerous excessively prominent trabeculations and deep …
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation
LM Dellefave, P Pytel, S Mewborn, B Mora… - Circulation …, 2009 - Am Heart Assoc
Background—Mutations in the genes encoding sarcomere proteins have been associated
with both hypertrophic and dilated cardiomyopathy. Recently, mutations in myosin heavy …
with both hypertrophic and dilated cardiomyopathy. Recently, mutations in myosin heavy …
Noncompacted myocardium in Ebstein's anomaly: initial description in three patients
CHA Jost, HM Connolly, CA Warnes, P O'leary… - Journal of the American …, 2004 - Elsevier
Exercise intolerance in Ebstein's anomaly is usually attributed to desaturation secondary to
right-to-left shunting as a result of a small or distorted left ventricle (LV), significant tricuspid …
right-to-left shunting as a result of a small or distorted left ventricle (LV), significant tricuspid …
Mutations in sarcomere protein genes in left ventricular noncompaction
S Klaassen, S Probst, E Oechslin, B Gerull, G Krings… - Circulation, 2008 - Am Heart Assoc
Background—Left ventricular noncompaction constitutes a primary cardiomyopathy
characterized by a severely thickened, 2-layered myocardium, numerous prominent …
characterized by a severely thickened, 2-layered myocardium, numerous prominent …
Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction
JL Theis, MT Zimmermann, JM Evans… - Circulation …, 2015 - Am Heart Assoc
Background—The molecular underpinnings of hypoplastic left heart are poorly understood.
Staged surgical palliation has dramatically improved survival, yet eventual failure of the …
Staged surgical palliation has dramatically improved survival, yet eventual failure of the …
Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene
BS Budde, P Binner, S Waldmüller, W Höhne… - PloS one, 2007 - journals.plos.org
Noncompaction of the ventricular myocardium (NVM) is the morphological hallmark of a rare
familial or sporadic unclassified heart disease of heterogeneous origin. NVM results …
familial or sporadic unclassified heart disease of heterogeneous origin. NVM results …