What does this research mean for the field?

Q: What does this research mean for the field?

The novel p.Arg652Lys variant in the MYH7 gene is a likely pathogenic mutation associated with the development of hypertrophic cardiomyopathy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 9, 2022GenesOpen Access

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7

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Why the study?

Finding a causal mutation in hypertrophic cardiomyopathy helps assess proband risk, evaluate relatives, and focus follow-up on carriers.

Design

Observational study

Follow-up

Median of 63 months

Authors

GAGuido AntoniuttiHospital Quirónsalud Barcelona FCFiama Caimi-MartínezHospital Son Llatzer JÁJorge Álvarez-RubioInstituto de Salud Carlos III

Discussion

Member takes

Implication

p.Arg652Lys carriers show high HCM penetrance and events; extends MYH7 data but leaves open prospective validation.

Structured PICO

Population

59 patients from 8 families evaluated for hypertrophic cardiomyopathy (HCM) and the novel p.Arg652Lys variant in the MYH7 gene

Intervention

Presence of the novel p.Arg652Lys variant in the MYH7 gene

Outcome

Development of HCM and incidence of a composite of serious adverse cardiovascular events (sudden death, aborted sudden death, appropriate implantable cardiac defibrillator discharge, an embolic event, or admission for heart failure)composite

The novel p.Arg652Lys variant in the MYH7 gene is likely pathogenic and associated with the development of hypertrophic cardiomyopathy and serious adverse cardiovascular events.

Cite This Study

Antoniutti et al. (2022) studied this question.

synapsesocial.com/papers/6a1a4e472d4abcb2c93502dd https://doi.org/10.3390/genes13020320

Topics

Hypertrophic cardiomyopathy

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Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider