[Hypertrophic cardiomyopathy].

Hypertrofische cardiomyopathie.

Journal

Nederlands tijdschrift voor geneeskunde
ISSN: 1876-8784
Titre abrégé: Ned Tijdschr Geneeskd
Pays: Netherlands
ID NLM: 0400770

Informations de publication

Date de publication:
07 02 2019
Historique:
entrez: 8 2 2019
pubmed: 8 2 2019
medline: 26 5 2020
Statut: epublish

Résumé

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. Its prevalence is estimated between 1:500 and 1:200. HCM is defined by left ventricular hypertrophy (wall thickness ≥ 15 mm) in absence of abnormal loading conditions such as hypertension. It is caused by mutations in cardiac sarcomere protein genes and inheritance is autosomal dominant. HCM is heterogeneous in terms of its clinical presentation, progression and prognosis, ranging from absence of symptoms in genotype-positive individuals to severe left ventricular hypertrophy, sudden cardiac death and end-stage heart failure at young age. Timely identification of HCM patients and initiation of proper treatment requires knowledge of the various manifestations of HCM. We describe the case of a 60-year-old female HCM patient and the four clinical stages of HCM with corresponding complications and treatment options.

Identifiants

pubmed: 30730688
pii:

Types de publication

Case Reports Journal Article

Langues

dut

Sous-ensembles de citation

IM

Auteurs

Beau van Driel (B)

Amsterdam UMC, afd. Fysiologie, locatie VUmc.
Contact: B. van Driel (b.vandriel@vumc.nl).

Folkert W Asselbergs (FW)

UMC Utrecht, afd. Cardiologie.

Rudolf A de Boer (RA)

UMC Groningen, afd. Experimentele Cardiologie.

Albert C van Rossum (AC)

Amsterdam UMC, afd. Cardiologie, locatie VUmc.

J Peter van Tintelen (JP)

Amsterdam UMC, afd. Klinische Genetica, locatie VUmc.

Jolanda van der Velden (J)

Amsterdam UMC, afd. Fysiologie, locatie VUmc.

Michelle Michels (M)

Erasmus MC, afd. Cardiologie, Rotterdam.

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Classifications MeSH