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January 28, 2022GenesOpen Access

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

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Why the study?

Progressive cardiac conduction disease is linked to rare gene mutations including TRPM4, and identifying causative mutations in affected families is important for risk stratification and counselling.

Population

A family with multiple individuals requiring pacemaker implantation, including a 47-year-old proband with complete AVB

Design

Family case report and genetic analysis

Authors

APAlberto PalladinoUniversity of PaduaAPAndrea Antonio PapaElectrophysiologyRPRoberta PetilloOspedale Antonio Cardarelli

Discussion

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Implication

Supports TRPM4 screening for conduction disease risk stratification; leaves open need for validation before changing practice.

Structured PICO

P
Population
A family with progressive cardiac conduction disease (PCCD), including a 47-year-old male proband with complete AV block and syncope, a brother who died of sudden cardiac death at 25, and three paternal uncles requiring pacemakers.
I
Intervention
Next-generation sequencing (NGS) genetic testing
O
Outcome
Identification of genetic mutation responsible for familial PCCD

This case report supports the causative role of TRPM4 gene mutations in progressive cardiac conduction disease, highlighting the importance of genetic screening for risk stratification.

Cite This Study

Palladino et al. (2022) studied this question.

synapsesocial.com/papers/6a0aaf8b48609dcc0aac955chttps://doi.org/10.3390/genes13020258
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