Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.
TNNT2
cardiomyopathy
dilated cardiomyopathy
genetic screening
troponin T2
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
31 Mar 2023
31 Mar 2023
Historique:
received:
24
02
2023
revised:
28
03
2023
accepted:
29
03
2023
medline:
28
4
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
epublish
Résumé
Cardiomyopathies (CMs) are a heterogeneous and severe group of diseases that shows a highly variable cardiac phenotype and an incidence of app. 1/100.000. Genetic screening of family members is not yet performed routinely. Three families with dilated cardiomyopathy (DCM) and pathogenic variants in the troponin T2, Cardiac Type ( Family screening of patients with DCM improves risk assessment, especially for individuals who are currently asymptomatic. Screening contributes to improved treatment by enabling practitioners to set appropriate control intervals and quickly begin interventional measures, such as heart failure medication or, in selected cases, pulmonary artery banding.
Sections du résumé
BACKGROUND
BACKGROUND
Cardiomyopathies (CMs) are a heterogeneous and severe group of diseases that shows a highly variable cardiac phenotype and an incidence of app. 1/100.000. Genetic screening of family members is not yet performed routinely.
PATIENTS AND METHODS
METHODS
Three families with dilated cardiomyopathy (DCM) and pathogenic variants in the troponin T2, Cardiac Type (
CONCLUSION
CONCLUSIONS
Family screening of patients with DCM improves risk assessment, especially for individuals who are currently asymptomatic. Screening contributes to improved treatment by enabling practitioners to set appropriate control intervals and quickly begin interventional measures, such as heart failure medication or, in selected cases, pulmonary artery banding.
Identifiants
pubmed: 37108997
pii: jpm13040611
doi: 10.3390/jpm13040611
pmc: PMC10145473
pii:
doi:
Types de publication
Journal Article
Langues
eng
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