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Article

A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.

The American journal of cardiology - 15 Nov 2002

Van Driest Sara L, Will Melissa L, Atkins Dianne L, Ackerman Michael J

Abstract excerpt

We sought to define the pathogenic mutation in a family with hypertrophic cardiomyopathy (HC) and a markedly arrhythmogenic phenotype. The proband was an 8-year-old female with a sentinel event of sudden death. Screening echocardiograms revealed HC in 2 of her 3 siblings and her father. Her young...

Read the complete abstract on PubMed

Topics

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Share to Cardiomyopathy, Hypertrophic
Share to Death, Sudden, Cardiac
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Testing

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Share to Point Mutation

Share to Tropomyosin

Source

Identifiers

PMID: 12423715
DOI: 10.1016/s0002-9149(02)02780-7

Genes

TPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12423715-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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