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April 30, 2021Frontiers in Cardiovascular MedicineOpen Access

Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy

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Why the study?

Mutations in the TTN gene are the most common causes of dilated cardiomyopathy, but their clinical significance remains inadequately understood.

Does the presence of TTN truncating variants affect the risk of cardiac death or heart transplantation in patients with sporadic dilated cardiomyopathy?

Population

1,041 patients with sporadic DCM

Comparison

Patients with TTN truncating variants vs those without or with mutations in other known causal genes

Design

Prospective cohort study

Follow-up

Median of 44 months

Authors

LXLei XiaoCLChenze LiYSYang Sun

Discussion

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Member takes

Overview

TTN truncating variants were not linked to higher event risk in sporadic DCM; leaves open their value in risk stratification.

Structured PICO

Does the presence of TTN truncating variants affect the risk of cardiac death or heart transplantation in patients with sporadic dilated cardiomyopathy?

P
Population
1,041 patients with sporadic dilated cardiomyopathy (DCM)
I
Intervention
Presence of TTN truncating variants (tTTN) or pathogenic TTN missense variants
C
Comparator
Patients without tTTN or with mutations in other known causal genes (OCG)
O
Outcome
Composite primary endpoint of cardiac death and heart transplantation during the follow-up periodcomposite

In patients with sporadic dilated cardiomyopathy, TTN truncating variants are common but do not significantly worsen the risk of cardiac death or heart transplantation compared to other genetic or non-genetic causes.

Cite This Study

Xiao et al. (2021) studied this question.

synapsesocial.com/papers/6a8bd67aeada60f85de3cc21https://doi.org/10.3389/fcvm.2021.657689
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy2019 · 56 citations
  2. 2Prevalence of Titin Truncating Variants in General Population2015 · 119 citations
  3. 3Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy2017 · 77 citations
  4. 4Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease2015 · 510 citations
  5. 5Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy2017 · 75 citations