Exploring the Continuum of Hypertrophic Cardiomyopathy-From DNA to Clinical Expression.
cardiac imaging
causative mutations
hypertrophic cardiomyopathy
modifiers
Journal
Medicina (Kaunas, Lithuania)
ISSN: 1648-9144
Titre abrégé: Medicina (Kaunas)
Pays: Switzerland
ID NLM: 9425208
Informations de publication
Date de publication:
23 Jun 2019
23 Jun 2019
Historique:
received:
23
03
2019
revised:
20
06
2019
accepted:
20
06
2019
entrez:
26
6
2019
pubmed:
27
6
2019
medline:
20
12
2019
Statut:
epublish
Résumé
The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of "asymmetric hypertrophy of the heart in young adults". Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as "a disease of the sarcomere", where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype-phenotype correlations, which will hopefully empower patient-tailored health interventions.
Identifiants
pubmed: 31234582
pii: medicina55060299
doi: 10.3390/medicina55060299
pmc: PMC6630598
pii:
doi:
Substances chimiques
Carrier Proteins
0
myosin-binding protein C
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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