Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy.
Adult
Aged
Cardiac Myosins
/ genetics
Cardiomyopathy, Hypertrophic
/ complications
Carrier Proteins
/ genetics
Female
Genotype
Heart Failure
/ etiology
Humans
Male
Middle Aged
Myosin Heavy Chains
/ genetics
Polymorphism, Genetic
Proportional Hazards Models
Registries
Retrospective Studies
Sarcomeres
/ genetics
Sex Characteristics
Survival Rate
Ventricular Function, Left
cardiomyopathy, hypertrophic
genetics
heart failure
sarcomeres
women
Journal
Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
pubmed:
8
12
2020
medline:
4
1
2022
entrez:
7
12
2020
Statut:
ppublish
Résumé
The impact of sex on phenotypic expression in hypertrophic cardiomyopathy (HCM) has not been well characterized in genotyped cohorts. Retrospective cohort study from an international registry of patients receiving care at experienced HCM centers. Sex-based differences in baseline characteristics and clinical outcomes were assessed. Of 5873 patients (3788 genotyped), 2226 (37.9%) were women. At baseline, women were older (49.0±19.9 versus 42.9±18.4 years, In HCM, women are older at diagnosis, partly modified by genetic substrate. Regardless of genotype, women were at higher risk of mortality and developing severe heart failure symptoms. This points to a sex-effect on long-term myocardial performance in HCM, which should be investigated further.
Sections du résumé
BACKGROUND
The impact of sex on phenotypic expression in hypertrophic cardiomyopathy (HCM) has not been well characterized in genotyped cohorts.
METHODS
Retrospective cohort study from an international registry of patients receiving care at experienced HCM centers. Sex-based differences in baseline characteristics and clinical outcomes were assessed.
RESULTS
Of 5873 patients (3788 genotyped), 2226 (37.9%) were women. At baseline, women were older (49.0±19.9 versus 42.9±18.4 years,
CONCLUSIONS
In HCM, women are older at diagnosis, partly modified by genetic substrate. Regardless of genotype, women were at higher risk of mortality and developing severe heart failure symptoms. This points to a sex-effect on long-term myocardial performance in HCM, which should be investigated further.
Identifiants
pubmed: 33284039
doi: 10.1161/CIRCGEN.120.003062
doi:
Substances chimiques
Carrier Proteins
0
MYH7 protein, human
0
myosin-binding protein C
0
Cardiac Myosins
EC 3.6.1.-
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e003062Subventions
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : R01 GM029090
Pays : United States