What is the clinical evidence from this study?

Study design: Observational. Population: Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=86). Intervention: DSG2 mutations. Primary outcome: Penetrance using Task Force criteria.

What question did this study set out to answer?

This study aims to clinically characterize the phenotypes of ARVC related to DSG2 mutations in affected families.

November 15, 2006European Heart JournalOpen Access

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

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Key result

DSG2 mutations in ARVC patients demonstrated 58% penetrance using Task Force criteria, with right ventricular abnormalities in 66% and left ventricular involvement in 25% of carriers.

Why the study?

What is the clinical phenotype and penetrance of DSG2 mutations in patients with arrhythmogenic right ventricular cardiomyopathy and their family members?

Population

86 Caucasian patients with arrhythmogenic right ventricular cardiomyopathy and family members of probands…

Design

Cross-sectional

Authors

PSPetros SyrrisHeart Failure & Transplant DWDeirdre WardTallaght University Hospital AAAngeliki AsimakiSt George's, University of London

Discussion

Member takes

Implication

May warrant expanded family screening in DSG2 carriers; leaves open longitudinal validation of penetrance and progression.

Key Points

This study aims to clinically characterize the phenotypes of ARVC related to DSG2 mutations in affected families.
Investigated 86 Caucasian ARVC patients for DSG2 mutations via direct sequencing.
Identified eight novel mutations in nine probands and evaluated family members.
Assessed penetrance using Task Force and modified criteria.
Penetrance of DSG2 mutations was found to be 58% using Task Force criteria and 75% with modified criteria.
Right ventricular morphological abnormalities were observed in 66% of gene carriers, with left ventricular involvement in 25%.
Only 26% presented classical right precordial T-wave inversion, and 8% had sustained ventricular arrhythmia.

Study Design

Type

Observational (n=86)

Structured PICO

What is the clinical phenotype and penetrance of DSG2 mutations in patients with arrhythmogenic right ventricular cardiomyopathy and their family members?

Population

86 Caucasian patients with arrhythmogenic right ventricular cardiomyopathy and their family members evaluated for DSG2 mutations.

Exposure

Genetic screening for desmoglein-2 (DSG2) mutations and clinical evaluation.

Outcome

Clinical phenotype and penetrance of DSG2 mutations (including morphological abnormalities, ECG changes, and arrhythmias).

DSG2 mutations in ARVC demonstrate high penetrance and frequent left ventricular involvement but a low prevalence of classical ECG changes, highlighting the need to expand current diagnostic criteria.

Cite This Study

Syrris et al. (2006) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=86). DSG2 mutations was evaluated on Penetrance using Task Force criteria. DSG2 mutations in ARVC patients demonstrated 58% penetrance using Task Force criteria, with right ventricular abnormalities in 66% and left ventricular involvement in 25% of carriers.

synapsesocial.com/papers/6a2374f5b7e293e61ca5d538 https://doi.org/10.1093/eurheartj/ehl380

Topics

Cardiomyopathy

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Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Topics

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider