• Publications
  • Influence
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
This study evaluated common clinical characteristics of patients with lamin A/C gene mutations that cause either isolated dilated cardiomyopathy or dilated cardiomyopathy in association with skeletalExpand
  • 360
  • 17
Clinical utility gene card for: Dilated Cardiomyopathy (CMD)
1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) Idiopathic dilated cardiomyopathy (IDC) is defined by the presence of left ventricular dilatation and systolic dysfunction in the absenceExpand
  • 38
  • 3
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
In this part of a series on cardiogenetic founder mutations in the Netherlands, we review the Dutch founder mutations in hypertrophic cardiomyopathy (HCM) patients. HCM is a common autosomal dominantExpand
  • 63
  • 2
Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)
Name of the disease (synonyms) Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable disease characterized by structural and functional abnormalities of the right ventricle (RV),Expand
  • 42
  • 2
  • PDF
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is a disease characterized by progressive fibrofatty replacement of primarily the right ventricle (RV). 1–3
  • 22
  • 2
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy
Background. About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiacExpand
  • 12
  • 2
Gender differences in the long QT syndrome: Effects of β-adrenoceptor blockade
Background: Gender differences have been reported in patients with the congenital long QT syndrome (LQTS). We analyzed whether electrocardiographic differences existed in females, males, girls andExpand
  • 35
  • 1
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
Background: Loeys-Dietz syndrome (LDS) is a newly recognised disorder of connective tissue which shares overlapping features with Marfan syndrome (MFS) and the vascular type of Ehlers- DanlosExpand
  • 44
  • 1
...
1
2
3
4
5
...