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June 26, 2018EP Europace

A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family

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Key result

The novel LMNA nonsense mutation c.544C>T causes a severe arrhythmogenic phenotype with a high incidence of sudden cardiac death (17 SCDs at mean age 49.3 years) and rapidly progressing heart failure.

Population

A five-generation family with a novel LMNA nonsense mutation c.544C>T, p.Q182*, including 17 who suffered…

Design

Case_series

Authors

CGChristina R GlöcklhoferJSJohannes SteinfurtGFGerlind Franke

Discussion

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Overview

High SCD risk with this LMNA mutation in one family supports early ICD consideration; leaves open generalizability to other carriers.

Study Design

Type

Observational (n=65)

Structured PICO

P
Population
65 members of a five-generation family evaluated to characterize the cardiac phenotype associated with the novel LMNA nonsense mutation c.544C>T.
O
Outcome
Characterization of the cardiac phenotype including arrhythmia, syncope, sudden cardiac death, and heart failure progressionhard clinical

The novel LMNA nonsense mutation c.544C>T is associated with a severe arrhythmogenic phenotype with high risk of sudden cardiac death and rapidly progressive heart failure, highlighting the need for early ICD consideration.

Cite This Study

Glöcklhofer et al. (2018) conducted an observational in Cardiomyopathy (n=65). LMNA nonsense mutation c.544C>T was evaluated on Sudden cardiac death and heart failure. The novel LMNA nonsense mutation c.544C>T causes a severe arrhythmogenic phenotype with a high incidence of sudden cardiac death (17 SCDs at mean age 49.3 years) and rapidly progressing heart failure.

synapsesocial.com/papers/6a93bc3bf3532cd145ebd0e8https://doi.org/10.1093/europace/euy127
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