Familial short QT syndrome

Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0012232 Shortened QT interval Obligate (100%)
HP:0001662 Bradycardia Very frequent (99-80%)
HP:0001962 Palpitations Frequent (79-30%)
HP:0005110 Atrial fibrillation Frequent (79-30%)
HP:0001279 Syncope Occasional (29-5%)
HP:0001645 Sudden cardiac death Occasional (29-5%)
HP:0001663 Ventricular fibrillation Occasional (29-5%)
HP:0001678 Atrioventricular block Occasional (29-5%)
HP:0004308 Ventricular arrhythmia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
KCNJ2 potassium voltage-gated channel subfamily J member 2 3759
KCNH2 potassium voltage-gated channel subfamily H member 2 3757
KCNQ1 potassium voltage-gated channel subfamily Q member 1 3784
CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 781