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

SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?

American journal of medical genetics. Part A - 1 Mar 2025

Cirelli Michael A, Wackel Philip, Javed Rabia, Gavrilova Ralitza, Qureshi M Yasir, Dearani Joseph A, Boucher Lauren M, Niaz Talha

Abstract excerpt

Noonan syndrome (NS) is a predominantly autosomal dominant condition with various cardiac and extra-cardiac manifestations. Although it has been linked with atrial arrhythmias, ventricular arrhythmias are extremely rare in the absence of underlying structural cardiac abnormalities. We report an instance of aborted sudden cardiac arrest in a 7-year-old male with a confirmed SOS1 variant and a lack of evidence to...

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 Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to Mutation

Share to Noonan Syndrome

Share to Phenotype

Share to SOS1 Protein

Source

Identifiers

PMID: 39444097
DOI: 10.1002/ajmg.a.63912

Genes

SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?PMID 39444097Read ↗

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.Semantic proximity Read ↗

Concealed cardiomyopathy as an emerging cause of sudden cardiac arrest and sudden cardiac death.Semantic proximity Read ↗

Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.Semantic proximity Read ↗

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.Semantic proximity Read ↗

Cardiovascular disease in Noonan syndrome.Semantic proximity Read ↗

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.Semantic proximity Read ↗

Sudden cardiac death in children and young adults without structural heart disease: a comprehensive review.Semantic proximity Read ↗

Clinical and genetic evaluation after sudden cardiac arrest.Semantic proximity Read ↗

When the U Wave Tells the Story: Andersen-Tawil Syndrome Unmasked.Semantic proximity Read ↗

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.Semantic proximity Read ↗

Cardiac findings in Noonan syndrome on long-term follow-up.Semantic proximity Read ↗

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?Semantic proximity Read ↗

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