short QT syndrome
Findings
No curated finding names short QT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified
Definition from the Mondo Disease Ontology (MONDO:0000453), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Shortened QT intervalHPOHP:0012232
- Obligate (100% of cases)
- BradycardiaHPOHP:0001662
- Very frequent (80% to 99% of cases)
- Atrial fibrillationHPOHP:0005110
- Frequent (30% to 79% of cases)
- PalpitationsHPOHP:0001962
- Frequent (30% to 79% of cases)
- Atrioventricular blockHPOHP:0001678
- Occasional (5% to 29% of cases)
- Sudden cardiac deathHPOHP:0001645
- Occasional (5% to 29% of cases)
- SyncopeHPO
Genes
8 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.
- KCNH2HGNC:6251
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- KCNQ1HGNC:6294
- Strong · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- KCNJ2HGNC:6263
- Moderate · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC4A3HGNC:11029
- Moderate · ClinGen · Autosomal dominant · 2020
- Moderate · G2P · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: short QT syndrome
- Also called
- ventricular arrhythmia associated with short QT syndrome