Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography - 1 Jun 2003

Earing Michael G, Ackerman Michael J, O'Leary Patrick W

Abstract excerpt

BACKGROUND: Early identification of familial cases of hypertrophic cardiomyopathy (HCM) depends on screening echocardiography, but hypertrophy may not be the most sensitive marker for the disease. We report the echocardiographic findings of a family with HCM and a newly reported mutation in the g...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Hypertrophic
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diastole

Share to Echocardiography

Share to Mutation

Share to Tropomyosin

Share to Ventricular Dysfunction, Left

Source

Identifiers

PMID: 12778034
DOI: 10.1016/s0894-7317(03)00285-2

Genes

TPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12778034-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation.PMID 12778034Read ↗

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

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.Semantic proximity Read ↗

Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.Semantic proximity Read ↗

Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood.Semantic proximity Read ↗

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.Semantic proximity Read ↗

A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.Semantic proximity Read ↗

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.Semantic proximity Read ↗

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathySemantic proximity Read ↗

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.Semantic proximity Read ↗

Screening for pre-clinical hypertrophic cardiomyopathy by tissue Doppler imaging.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.