What is the clinical evidence from this study?

Study design: Case Report. Population: Brugada type 1 ECG pattern (n=5). Intervention: Next Generation Sequencing. Primary outcome: Identification of genetic variants.

September 9, 2021CardiogeneticsOpen Access

Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

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Key result

Next Generation Sequencing identified variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in 5 patients with Brugada type 1 ECG pattern, suggesting a genotypic overlap.

Why the study?

Are hypertrophic cardiomyopathy gene mutations present in patients with Brugada Type 1 ECG pattern?

Design

Case series

Authors

MFMarianna FarnèUniversity of Ferrara CBCristina BallaElectrophysiology AMAlice MarguttiUniversity of Ferrara

Discussion

Member takes

Implication

Brugada type 1 ECG may reflect concealed HCM variants; case report leaves open genotypic overlap pending validation.

Study Design

Type

Case Report (n=5)

Structured PICO

Are hypertrophic cardiomyopathy gene mutations present in patients with Brugada Type 1 ECG pattern?

Population

5 patients with spontaneous or drug-induced Brugada type 1 ECG pattern, variably associated with symptoms and a positive family history.

Exposure

Next Generation Sequencing panels approach including genes of both channelopathies and cardiomyopathies

Outcome

Identification of genetic variantssurrogate

Brugada type 1 ECG may be an early electrocardiographic marker of concealed structural heart disease, suggesting a genotypic overlap between Brugada syndrome and cardiomyopathies.

Cite This Study

Farnè et al. (2021) conducted a case report in Brugada type 1 ECG pattern (n=5). Next Generation Sequencing was evaluated on Identification of genetic variants. Next Generation Sequencing identified variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in 5 patients with Brugada type 1 ECG pattern, suggesting a genotypic overlap.

synapsesocial.com/papers/6a20412a3f2ec568b1df5ecd https://doi.org/10.3390/cardiogenetics11030016

Topics

Hypertrophic cardiomyopathy

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Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Topics

Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider