familial long QT syndrome
Findings
No curated finding names familial long QT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
Definition from the Mondo Disease Ontology (MONDO:0019171), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Prolonged QTc intervalHPOHP:0005184
- Obligate (100% of cases)
- Abnormal T-waveHPOHP:0005135
- Frequent (30% to 79% of cases)
- Sinus bradycardiaHPOHP:0001688
- Frequent (30% to 79% of cases)
- SyncopeHPOHP:0001279
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Occasional (5% to 29% of cases)
- Abnormal cardiac exercise stress testHPOHP:0500018
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Sudden cardiac deathHPOHP:0001645
- Occasional (5% to 29% of cases)
- Torsade de pointesHPOHP:0001664
- Occasional (5% to 29% of cases)
- Ventricular arrhythmiaHPOHP:0004308
- Occasional (5% to 29% of cases)
- Abnormality of prenatal development or birthHPOHP:0001197
- Very rare (1% to 4% of cases)
- HypokalemiaHPOHP:0002900
- Very rare (1% to 4% of cases)
Reported absent (1)
- Hearing impairmentHPOHP:0000365
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.
- HGNC:1449HGNC:1449
- Definitive · G2P · Autosomal dominant · 2024
- TRDNHGNC:12261
- Strong · G2P · Autosomal recessive · 2024
Where it sits
- A kind of
- Narrower terms (19)
- Andersen-Tawil syndrome
- cardiac arrhythmia, ankyrin-B-related
- Jervell and Lange-Nielsen syndrome
- long QT syndrome 1
- long QT syndrome 10
- long QT syndrome 11
- long QT syndrome 12
- long QT syndrome 13
- long QT syndrome 14
- long QT syndrome 15
- long QT syndrome 16
- long QT syndrome 2
- long QT syndrome 3
- long QT syndrome 4
- long QT syndrome 5
- long QT syndrome 6
- long QT syndrome 8
- long QT syndrome 9
- Timothy syndrome
Other names
7 names
Resolves to: familial long QT syndrome
- Also called
- congenital long QT syndromehereditary long QT syndromeLong QT syndromeLQTSRomano-Ward long QT syndromeRomano-Ward syndromeWard-Romano syndrome