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

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

Human genetics - 1 Dec 2024

Martínez-Barrios Estefanía, Greco Andrea, Cruzalegui José, Cesar Sergi, Díez-Escuté Nuria, Cerralbo Patricia, Chipa Fredy, Zschaeck Irene, Slanovic Leonel, Mangas Alipio, Toro Rocío, Brugada Josep, Sarquella-Brugada Georgia, Campuzano Oscar

Abstract excerpt

Genetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized by structural normal hearts with short QT intervals in the electrocardiogram. Few families diagnosed with this arrhythmogenic disease have been reported worldwide so far, impeding a comprehensive understanding of this syndrome. Unraveling the origin of the disease helps to the early...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to Electrocardiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ERG1 Potassium Channel

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Genetic Variation

Share to KCNQ1 Potassium Channel

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 39503779
DOI: 10.1007/s00439-024-02713-x
PMCID: PMC11576798

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.PMID 39503779Read ↗

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare VariantsSemantic proximity Read ↗

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.Semantic proximity Read ↗

Clinical and molecular genetics of the short QT syndromeSemantic proximity Read ↗

Diagnosis, management and therapeutic strategies for congenital long QT syndrome.Semantic proximity Read ↗

Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood.Semantic proximity Read ↗

Multiple clinical profiles of families with the short QT syndrome.Semantic proximity Read ↗

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.Semantic proximity Read ↗

The genetic architecture of long QT syndrome: A critical reappraisal.Semantic proximity Read ↗

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.Semantic proximity Read ↗

First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosisSemantic proximity Read ↗

The genetic basis of long QT and short QT syndromes: a mutation update.Semantic proximity Read ↗

Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.Semantic proximity Read ↗

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