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July 27, 2017PLoS ONEOpen Access

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

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Why the study?

Does targeted next-generation sequencing identify novel gene-phenotype associations in patients with severe cardiomyopathies?

Population

38 unrelated patients with severe phenotypes and family history of cardiomyopathy and/or sudden death

Design

Cohort

Authors

CFCinzia ForleoHeart Failure / CardiomyopathyADAnna Maria D’ErchiaUniversity of Bari Aldo MoroSSSandro SorrentinoUniversity of Molise

Discussion

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Overview

Expands the mutational spectrum of severe cardiomyopathies but should not yet alter routine genetic testing protocols.

Structured PICO

Does targeted next-generation sequencing identify novel gene-phenotype associations in patients with severe cardiomyopathies?

P
Population
38 unrelated patients (16 affected by DCM, 14 by HCM, and 8 by ARVC) with severe phenotypes and family history of cardiomyopathy and/or sudden death
I
Intervention
Targeted next-generation sequencing using a custom gene panel of 115 genes associated with cardiomyopathic phenotypes and channelopathies
O
Outcome
Detection of rare variants and novel gene-phenotype associationssurrogate

Targeted next-generation sequencing expands the mutational spectrum and identifies novel gene-phenotype associations in patients with severe cardiomyopathies.

Cite This Study

Forleo et al. (2017) studied this question.

synapsesocial.com/papers/6a8694fca168eea56b2d7886https://doi.org/10.1371/journal.pone.0181842

Topics

CardiomyopathyCardiac amyloidosis
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