February 28, 2023Journal of Cardiovascular Development and DiseaseOpen Access

Pathogenic/likely pathogenic variants in cardiomyopathy-related genes (mostly TTN truncating variants) were found in 24% (13/54) of the Latvian cohort and 8% (9/107) of the UK Biobank cohort, with 38% (5/13) of the variant-positive Latvian patients showing ventricular dilation on follow-up MRI.

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Why the study?

Up to 15% of AF occurs without related risk factors, and the prevalence of pathogenic variants and structural cardiac abnormalities in early-onset AF without known risk factors needed to be determined.

What is the prevalence of pathogenic genetic variants and structural cardiac abnormalities in patients with early-onset atrial fibrillation without traditional risk factors?

Population

54 risk factor-free early-onset AF patients and 107 UK Biobank validation patients

Design

Exome sequencing cohort study with independent validation

Authors

IRIrina Rudaka BVBaiba Vilne JIJekaterīna Isakova

Discussion

Member takes

Overview

May support cardiomyopathy-gene testing plus imaging follow-up in unexplained early-onset AF; leaves open routine use given this small observational series.

Structured PICO

What is the prevalence of pathogenic genetic variants and structural cardiac abnormalities in patients with early-onset atrial fibrillation without traditional risk factors?

Population

161 patients with early-onset atrial fibrillation without known disease-related risk factors (54 from a Latvian cohort and 107 from the UK Biobank).

Intervention

Exome sequencing and follow-up cardiac magnetic resonance imaging.

Outcome

Prevalence of pathogenic variants and structural cardiac abnormalities.surrogate

Early-onset atrial fibrillation without traditional risk factors is frequently associated with pathogenic variants in cardiomyopathy-related genes, particularly TTN, which may predispose patients to ventricular dilation.

Cite This Study

Rudaka et al. (2023) studied this question.

synapsesocial.com/papers/6a7ed5a1084666b5350d2e31 https://doi.org/10.3390/jcdd10030104

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February 28, 2023Journal of Cardiovascular Development and DiseaseOpen Access

Pathogenic/likely pathogenic variants in cardiomyopathy-related genes (mostly TTN truncating variants) were found in 24% (13/54) of the Latvian cohort and 8% (9/107) of the UK Biobank cohort, with 38% (5/13) of the variant-positive Latvian patients showing ventricular dilation on follow-up MRI.

View Full Paper

Ask AI

Bookmark

Why the study?

What is the prevalence of pathogenic genetic variants and structural cardiac abnormalities in patients with early-onset atrial fibrillation without traditional risk factors?

Population

54 risk factor-free early-onset AF patients and 107 UK Biobank validation patients

Design

Exome sequencing cohort study with independent validation

Authors

IRIrina Rudaka BVBaiba Vilne JIJekaterīna Isakova

Discussion

Member takes

Overview

May support cardiomyopathy-gene testing plus imaging follow-up in unexplained early-onset AF; leaves open routine use given this small observational series.

Structured PICO

What is the prevalence of pathogenic genetic variants and structural cardiac abnormalities in patients with early-onset atrial fibrillation without traditional risk factors?

Population

161 patients with early-onset atrial fibrillation without known disease-related risk factors (54 from a Latvian cohort and 107 from the UK Biobank).

Intervention

Exome sequencing and follow-up cardiac magnetic resonance imaging.

Outcome

Prevalence of pathogenic variants and structural cardiac abnormalities.surrogate

Cite This Study

Rudaka et al. (2023) studied this question.

synapsesocial.com/papers/6a7ed5a1084666b5350d2e31 https://doi.org/10.3390/jcdd10030104

View Full Paper

Ask AI

Bookmark