ArticleNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation2007
Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience.
Article in Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes.Journal of ultrasound · 2018Article
- Antemortem Screening for Left Ventricular Hypertrophy in Rhesus Macaques (Macaca mulatta).Comparative medicine · 2016Article
- Hypertrophic cardiomyopathy in a 20-year-old woman.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2015Article
- Provision of cardiovascular genetic counseling services: current practice and future directions.Journal of genetic counseling · 2014Article
- Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine.Molecular biology reports · 2014Review
- Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.Pflugers Archiv : European journal of physiology · 2014Article
- Genetic evaluation of dilated cardiomyopathy.Current cardiology reports · 2013Review
- Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions.European journal of human genetics : EJHG · 2013Article
- The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2012Article
- Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.American heart journal · 2011Article
- Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences.Journal of genetic counseling · 2010Article
- Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2010Article
- Left ventricular mass assessment by CMR; how to define the optimal index.The international journal of cardiovascular imaging · 2010Article
- Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2009Article
- Genomics, transcriptional profiling, and heart failure.Journal of the American College of Cardiology · 2009Review
- Cardiovascular genetic medicine: evolving concepts, rationale, and implementation.Journal of cardiovascular translational research · 2008Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypertrophic cardiomyopathy (HCM) is a disease characterised by unexplained left ventricular hypertrophy (LVH) (i.e. LVH in the absence of another cardiac or systemic disease that could produce a similar degree of hypertrophy), electrical instability and sudden death (SD).Germline mutations in genes encoding for sarcomere proteins are found in more than half of the cases of unexplained LVH. The autosomal dominant inherited forms of HCM are characterised by incomplete penetrance and variability in clinical and echocardiographic features, prognosis and therapeutic modalities. The identification of the genetic defect in one of the HCM genes allows accurate presymptomatic detection of mutation carriers in a family. Cardiac evaluation of at-risk relatives enables early diagnosis and identification of those patients at high risk for SD, which can be the first manifestation of the disease in asymptomatic persons.In this article we present our experience with genetic testing and cardiac screening in our HCM population and give an overview of the current literature available on this subject. (Neth Heart J 2007;15:184-9.).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.