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

A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction.

The Canadian journal of cardiology - 1 Apr 2017

Kimura Mai, Kohno Takashi, Aizawa Yoshiyasu, Inohara Taku, Shiraishi Yasuyuki, Katsumata Yoshinori, Egashira Toru, Fukushima Hiroyuki, Kosaki Kenjiro, Fukuda Keiichi

Abstract excerpt

A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation-p.Q371E-in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to...

Read the complete abstract on PubMed

Topics

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

Share to Echocardiography
Share to Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Long QT Syndrome

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Severity of Illness Index

Share to Systole

Share to Ventricular Dysfunction, Left

Share to Ventricular Function, Left

Source

Identifiers

PMID: 28011106
DOI: 10.1016/j.cjca.2016.10.010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction.PMID 28011106Read ↗

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease.Semantic proximity Read ↗

The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3.Semantic proximity Read ↗

The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death.Semantic proximity Read ↗

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.Semantic proximity Read ↗

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease and dilated cardiomyopathySemantic proximity Read ↗

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.Semantic proximity Read ↗

Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.Semantic proximity Read ↗

Novel combination of TTN and CTNNA3 Pathogenic variant leading to Familial Dilated Cardiomyopathy: From acute heart failure to subclinical phenotypes.Semantic proximity Read ↗

[A Chinese pedigree with hypertrophic cardiomyopathy caused by rare homozygous mutation of TNNI3 gene p.Arg162Gln].Semantic proximity Read ↗

Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.Semantic proximity Read ↗

[A case of long QT syndrome with atypical clinical phenotype caused by KCNQ1-R555C missense mutation].Semantic proximity Read ↗

[Familial cardiomyopathy caused by mutation of SCN5A gene].Semantic proximity Read ↗

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