January 1, 2016Circulation JournalOpen Access

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

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Population

7 family members, 4 of whom presented with clinical features of hypertrophic cardiomyopathy and electrical…

Design

Case_series

Follow-up

8 to 10 years

Authors

RMRuggiero MangoPoliclinico Tor Vergata ALAndrea LuchettiUniversity of Bologna RSRaffaele SangiuoloFatebenefratelli Hospital

Discussion

Member takes

Implication

Suggests a possible HCM-BrS overlap syndrome with SD risk; leaves open whether this represents a distinct entity.

Structured PICO

Population

7 family members, 4 of whom presented with clinical features of hypertrophic cardiomyopathy (HCM) and electrical instability of Brugada syndrome (BrS). The proband presented with ventricular fibrillation.

Intervention

Integrated linkage analysis and next generation sequencing (NGS)

Outcome

Identification of the causative genetic mutationsurrogate

This study identifies a novel overlapping syndrome of hypertrophic cardiomyopathy and Brugada syndrome caused by a missense mutation in the TPM1 gene.

Cite This Study

Mango et al. (2016) studied this question.

synapsesocial.com/papers/6a708366ce524a4339c44054 https://doi.org/10.1253/circj.cj-15-0685

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Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider