Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy
…, APCM Backx, GJ du Marchie Sarvaas… - Journal of the American …, 2018 - jacc.org
… De novo mutations involving DES and PLN were observed in 2 children, and de novo
mutations involving PRDM16 and MYH7 were found in 2 adult patients. The children had severe …
mutations involving PRDM16 and MYH7 were found in 2 adult patients. The children had severe …
Erythropoietin improves cardiac function through endothelial progenitor cell and vascular endothelial growth factor mediated neovascularization
…, H Oeseburg, GJ Du Marchie Sarvaas… - European heart …, 2007 - academic.oup.com
Aims Erythropoietin (EPO) improves cardiac function and induces neovascularization in chronic
heart failure (CHF), although the exact mechanism has not been elucidated. We studied …
heart failure (CHF), although the exact mechanism has not been elucidated. We studied …
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
…, ACP Wiesfeld, GJ du Marchie Sarvaas… - American heart …, 2007 - Elsevier
BACKGROUND: Among the most frequently encountered mutations in dilated cardiomyopathy
(DCM) are those in the lamin A/C (LMNA) gene. Our goal was to analyze the LMNA gene …
(DCM) are those in the lamin A/C (LMNA) gene. Our goal was to analyze the LMNA gene …
[HTML][HTML] Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
…, PA Van Der Zwaag, GJ du Marchie Sarvaas… - Genetics in …, 2016 - nature.com
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations
in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis…
in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis…
[HTML][HTML] A multicenter, long-term study on arrhythmias in children with Ebstein anomaly
T Delhaas, GJ du Marchie Sarvaas, ME Rijlaarsdam… - Pediatric …, 2010 - Springer
To assess the prevalence, history, and treatment of arrhythmias, in particular preexcitation
and Wolff–Parkinson–White (WPW) syndrome, in patients with Ebstein anomaly (EA) during …
and Wolff–Parkinson–White (WPW) syndrome, in patients with Ebstein anomaly (EA) during …
The Cardiac Phenotype in Patients With a CHD7 Mutation
…, GJ du Marchie Sarvaas… - Circulation …, 2013 - Am Heart Assoc
… Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies
are small and do not provide a detailed classification of the defects. We present the first, …
are small and do not provide a detailed classification of the defects. We present the first, …
[HTML][HTML] Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
…, LG Boven, M Benjamins, GJ du Marchie Sarvaas… - Genetics in …, 2018 - Elsevier
Purpose We evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of
combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number …
combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number …
Genetic evaluation of a nation-wide Dutch pediatric DCM cohort: the use of genetic testing in risk stratification
…, SL den Boer, GJ du Marchie Sarvaas… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: This study aimed to describe the current practice and results of genetic
evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype …
evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype …
Death in CHARGE syndrome after the neonatal period
…, KD Blake, MK Bakker, GJ du Marchie Sarvaas… - Clinical …, 2010 - Wiley Online Library
… GJ Du Marchie Sarvaas … GJ Du Marchie Sarvaas … In general, supraventricular arrhythmias
do not cause sudden death at this age. It is also possible he died from respiratory aspiration. …
do not cause sudden death at this age. It is also possible he died from respiratory aspiration. …
Management of children with dilated cardiomyopathy in The Netherlands: implications of a low early transplantation rate
…, G Van Ingen, GJ du Marchie Sarvaas… - The Journal of Heart and …, 2015 - Elsevier
Background The policy for listing and transplant for children with dilated cardiomyopathy (DCM)
in The Netherlands has been conservative because of low donor availability. The effects …
in The Netherlands has been conservative because of low donor availability. The effects …