What is the clinical evidence from this study?

Study design: Observational. Population: Catecholaminergic polymorphic ventricular tachycardia (CPVT) and familial ventricular arrhythmias (n=33). Intervention: RyR2, FKBP1B, ATP2A2, and SLC8A1 gene mutations vs. Wild type / healthy controls. Primary outcome: Identification of disease-causing mutations in cardiac calcium cycling genes.

February 12, 2009BMC Medical GeneticsOpen Access

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

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Key result

Two novel RyR2 missense mutations and two RyR2 exon 3 deletions were identified, explaining 25% of the CPVT phenotypes, while no disease-causing variants were found in FKBP1B, ATP2A2, or SLC8A1.

Why the study?

Do mutations in cardiac calcium cycling genes (RyR2, FKBP1B, ATP2A2, SLC8A1) explain typical CPVT and atypical familial ventricular arrhythmias?

Population

33 consecutive symptomatic patients with frequent ventricular premature complexes without structural heart…

Comparison

Genetic sequencing of RyR2, FKBP1B, ATP2A2, and… vs Healthy blood donors and comparison between…

Design

Cohort

Authors

AMAnnukka MarjamaaUniversity of Helsinki PLPäivi J. Laitinen-ForsblomCenter for HIV and Hepatogastroenterology ALAnnukka M. LahtinenUniversity of Helsinki

Discussion

Member takes

Implication

Supports expanded RyR2 screening in exercise-related arrhythmias; leaves open roles of other calcium cycling genes.

Study Design

Type

Observational (n=33)

Multicenter

Structured PICO

Do mutations in cardiac calcium cycling genes (RyR2, FKBP1B, ATP2A2, SLC8A1) explain typical CPVT and atypical familial ventricular arrhythmias?

Population

33 patients with frequent ventricular premature complexes without structural heart disease, along with 232 family members, evaluated for mutations in cardiac calcium cycling genes.

Exposure

Genetic sequencing of RyR2, FKBP1B, ATP2A2, and SLC8A1 genes, along with in vitro electrophysiological studies of mutant channels.

Comparator

Healthy blood donors (n=300) and comparison between typical CPVT and atypical resting VPC phenotypes.

Outcome

Identification of mutations in genes affecting cardiac calcium cycling (RyR2, FKBP1B, ATP2A2, SLC8A1).surrogate

Limitations

Limited sample size precludes definitive statements on the occurrence of rare mutations in other study populations.
Lack of information concerning the in vitro functional properties of the mutant RyR2 S616L and R1051P channels.
Limited sample size precludes definitive statements on rare mutations in other populations
Lack of information concerning the in vitro functional properties of the mutant RyR2 S616L and R1051P channels

Cite This Study

Marjamaa et al. (2009) conducted an observational in Catecholaminergic polymorphic ventricular tachycardia (CPVT) and familial ventricular arrhythmias (n=33). RyR2, FKBP1B, ATP2A2, and SLC8A1 gene mutations vs. Wild type / healthy controls was evaluated on Identification of disease-causing mutations in cardiac calcium cycling genes. Two novel RyR2 missense mutations and two RyR2 exon 3 deletions were identified, explaining 25% of the CPVT phenotypes, while no disease-causing variants were found in FKBP1B, ATP2A2, or SLC8A1.

synapsesocial.com/papers/6a6d1a3bf44fa9f079db872e https://doi.org/10.1186/1471-2350-10-12

Topics

Ventricular arrhythmias

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Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Topics

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Topics

Also Consider