What is the clinical evidence from this study?

Study design: Observational. Population: Familial Hypertrophic Cardiomyopathy (n=19). Intervention: Targeted next-generation sequencing. Primary outcome: Identification of disease-causing variant.

What does this research mean for the field?

A novel ACTN2 variant (c.683T>C, p.Met228Thr) is associated with familial midapical hypertrophic cardiomyopathy and juvenile onset of atrial fibrillation. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

August 31, 2014Circulation Cardiovascular GeneticsOpen Access

Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

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Key result

Targeted next-generation sequencing identified a novel ACTN2 variant fully cosegregating with midapical hypertrophic cardiomyopathy and juvenile atrial fibrillation in 11 affected family members.

Population

Italian family spanning 4 generations with an autosomal dominant cardiomyopathic trait comprising midapical…

Design

Case_series

Authors

FGFrancesca GirolamiPediatric Cardiology MIMaria IasconeOspedale Papa Giovanni XXIII BTBenedetta TomberliHeart Failure & Transplant

Discussion

Member takes

Implication

Does not yet alter clinical genetic testing; leaves open ACTN2 causality pending replication in larger cohorts.

Study Design

Type

Observational (n=19)

Structured PICO

Population

Italian family spanning 4 generations with an autosomal dominant cardiomyopathic trait comprising midapical hypertrophic cardiomyopathy (HCM) with restrictive evolution, early-onset atrial fibrillation, atrioventricular block, and left ventricular noncompaction (n=19, including proband and 18 additional family members).

Intervention

Targeted next-generation sequencing of 48 disease genes for HCM

Outcome

Identification of disease-causing genetic variants cosegregating with the cardiomyopathic traitsurrogate

Targeted next-generation sequencing identified a novel ACTN2 variant associated with midapical HCM and juvenile atrial fibrillation, highlighting its utility in HCM diagnostic screening.

Cite This Study

Girolami et al. (2014) conducted an observational in Familial Hypertrophic Cardiomyopathy (n=19). Targeted next-generation sequencing was evaluated on Identification of disease-causing variant. Targeted next-generation sequencing identified a novel ACTN2 variant fully cosegregating with midapical hypertrophic cardiomyopathy and juvenile atrial fibrillation in 11 affected family members.

synapsesocial.com/papers/6a1581fa37103a43379fd65e https://doi.org/10.1161/circgenetics.113.000486

Topics

Atrial fibrillation Persistent AF management

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Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Topics

Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

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