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Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
TLDR
The yield from genetic analysis in DCM patients in a large Dutch cohort is described and genetic analysis of patients with idiopathic DCM is described for the first time. Expand
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
TLDR
To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated heart disease (DCM) patients, a large number of patients with these conditions have had atypical EMTs. Expand
Gender‐specific differences in major cardiac events and mortality in lamin A/C mutation carriers
TLDR
Mutations in the lamin A/C gene cause a variety of clinical phenotypes, including dilated cardiomyopathy, and is associated with a high risk of arrhythmias, sudden cardiac death, and heart failure. Expand
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?
TLDR
A family in which members carry either a single mutation or are double heterozygous for mutations in myosin heavy chain gene (MYH7) and cysteine and glycine-rich protein 3 (CSRP3) implies that in such families, all the family members still have an implication for cardiological screening parallel to extended genetic screening. Expand
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1–14)
1.2 OMIM# of the disease 192600 Cardiomyopathy, familial hypertrophic; CMH. 115195 Cardiomyopathy, familial hypertrophic, 2; CMH2. 115196 Cardiomyopathy, familial hypertrophic, 3; CMH3. 115197Expand
Outcome in Phospholamban R14del CarriersClinical Perspective
TLDR
Phospholamban R14del mutation carriers are at high risk for malignant ventricular arrhythmias and end-stage heart failure, with left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia as independent risk factors. Expand
Sunday, 26 August 2012
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?
TLDR
A family in which members carry either a single mutation or are double heterozygous for mutations in myosin heavy chain gene (MYH7) and cysteine and glycine-rich protein 3 (CSRP3) implies that in such families, all the family members still have an implication for cardiological screening parallel to extended genetic screening. Expand
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