Familial short QT syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SQTS
congenital short QT syndrome
Number of Symptoms 13
OrphanetNr: 51083
OMIM Id: 609620
609621
609622
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
23677719 [IBIS]
Age of onset: Infancy
Childhood
Adolescent
20126594 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Familial short QT syndrome (SQTS) is a cardiac channelopathy without structural heart disease. SQTS is divided into several sub-types depending on the mutated genes. The most common types are gain-of-function mutations on potassium channel variants, KCNH2 (SQT1), KCNQ1 (SQT2), KCNJ2 (SQT3, with asymmetrical T-waves). Additionally variants with mixed phenotype and not-so-short QTc intervals associated with loss of function mutations in calcium channel variants CACNB2B (SQT4), CACNA1C (SQT5), CACNA2D1 (SQT6) have been reported. Finally, another variant with mixed phenotype affecting the sodium channel SCN5A (SQT7) was described. (PMID:23677719)

Symptom Information: Sort by abundance 

1
 (HPO:0100598) Pulmonary edema 23677719 IBIS 17 / 7739
2
 (HPO:0005135) EKG: T-wave abnormalities Very frequent [IBIS] 23677719 IBIS 19 / 7739
3
 (HPO:0012232) Shortened QT interval Very frequent [IBIS] 23677719 IBIS 7 / 7739
4
 (HPO:0011712) Right bundle branch block 23677719 IBIS 34 / 7739
5
 (HPO:0001962) Palpitations Occasional [IBIS] 16% (n=25) 23375927 IBIS 62 / 7739
6
 (HPO:0004757) Paroxysmal atrial fibrillation Frequent [IBIS] 23677719 IBIS 16 / 7739
7
 (HPO:0004756) Ventricular tachycardia 23677719 IBIS 55 / 7739
8
 (HPO:0004751) Paroxysmal ventricular tachycardia 23677719 IBIS 5 / 7739
9
 (HPO:0006682) Ventricular extrasystoles 26001507 IBIS 25 / 7739
10
 (HPO:0001663) Ventricular fibrillation 23677719 IBIS 35 / 7739
11
 (HPO:0001695) Cardiac arrest 23677719 IBIS 87 / 7739
12
 (HPO:0001645) Sudden cardiac death Occasional [IBIS] 24% (n=25) 23375927 IBIS 84 / 7739
13
 (HPO:0001279) Syncope Occasional [IBIS] 16% (n=25) 23375927 IBIS 94 / 7739

Associated genes:

KCNH2; KCNQ1; KCNJ2; CACNB2B; CACNA1C; CACNA2D1; SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
KCNH2 rs104894021 pathogenic RCV000057980.2
KCNH2 rs104894021 pathogenic RCV000015517.25
KCNH2 rs104894021 pathogenic RCV000057981.2
KCNH2 rs104894021 pathogenic RCV000015518.21
KCNH2 rs199472841 pathogenic RCV000057920.2
KCNH2 rs199472947 pathogenic RCV000058015.2
KCNH2 rs199473547 pathogenic RCV000058222.2
KCNJ2 rs104894584 pathogenic RCV000009482.2
KCNJ2 rs104894584 pathogenic RCV000058318.2
KCNQ1 rs120074195 pathogenic RCV000003298.3
KCNQ1 rs120074195 pathogenic RCV000057800.2

Additional Information: