February 1, 2006ViewOpen Access

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

View Full Paper

Ask AI

Bookmark

Population

1 patient with recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular…

Design

Case_report

Discussion

Member takes

Implication

May inform genetic evaluation in early-onset cardiomyopathy; leaves open prevalence and management implications pending larger studies.

Structured PICO

Population

1 patient (4 years of age) with recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement, epidermolytic palmoplantar keratoderma, and woolly hair.

Outcome

Identification of the genetic mutation responsible for the patient's phenotype

This is the first description of a severe early-onset cardiomyopathy phenotype caused by a mutation affecting only the DSPI isoform of desmoplakin.

Cite This Study

A 2006 study studied this question.

synapsesocial.com/papers/6a8a6451e7982ec3bdde86e0 https://doi.org/10.1136/jmg.2005.032904

Topics

Cardiomyopathy

View Full Paper

Ask AI

Bookmark

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider