long QT syndrome 2
Findings
No curated finding names long QT syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Definition from the Mondo Disease Ontology (MONDO:0013367), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Notched T waveHPOHP:0034303
- 3 of 3 reported patients
- Prolonged QT intervalHPOHP:0001657
- 4 of 4 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 1 of 1 reported patient
- SyncopeHPOHP:0001279
- 3 of 4 reported patients
- Sudden cardiac deathHPOHP:0001645
- 2 of 5 reported patients
- Cardiac arrestHPOHP:0001695
- 1 of 4 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
3 names
Resolves to: long QT syndrome 2
- Also called
- long QT syndrome type 2Long QT syndrome, acquired, reduced susceptibility toLQT2