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: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0100598) | Pulmonary edema | 23677719 | IBIS | 17 / 7739 | ||
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(HPO:0005135) | EKG: T-wave abnormalities | Very frequent [IBIS] | 23677719 | IBIS | 19 / 7739 | |
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(HPO:0012232) | Shortened QT interval | Very frequent [IBIS] | 23677719 | IBIS | 7 / 7739 | |
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(HPO:0011712) | Right bundle branch block | 23677719 | IBIS | 34 / 7739 | ||
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(HPO:0001962) | Palpitations | Occasional [IBIS] | 16% (n=25) | 23375927 | IBIS | 62 / 7739 |
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(HPO:0004757) | Paroxysmal atrial fibrillation | Frequent [IBIS] | 23677719 | IBIS | 16 / 7739 | |
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(HPO:0004756) | Ventricular tachycardia | 23677719 | IBIS | 55 / 7739 | ||
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(HPO:0004751) | Paroxysmal ventricular tachycardia | 23677719 | IBIS | 5 / 7739 | ||
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(HPO:0006682) | Ventricular extrasystoles | 26001507 | IBIS | 25 / 7739 | ||
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(HPO:0001663) | Ventricular fibrillation | 23677719 | IBIS | 35 / 7739 | ||
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(HPO:0001695) | Cardiac arrest | 23677719 | IBIS | 87 / 7739 | ||
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(HPO:0001645) | Sudden cardiac death | Occasional [IBIS] | 24% (n=25) | 23375927 | IBIS | 84 / 7739 |
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(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 | RCV000057981.2 |
KCNH2 | rs104894021 | pathogenic | RCV000015517.25 |
KCNH2 | rs104894021 | pathogenic | RCV000015518.21 |
KCNH2 | rs104894021 | pathogenic | RCV000057980.2 |
KCNH2 | rs199472841 | pathogenic | RCV000057920.2 |
KCNH2 | rs199472947 | pathogenic | RCV000058015.2 |
KCNH2 | rs199473547 | pathogenic | RCV000058222.2 |
KCNJ2 | rs104894584 | pathogenic | RCV000058318.2 |
KCNJ2 | rs104894584 | pathogenic | RCV000009482.2 |
KCNQ1 | rs120074195 | pathogenic | RCV000003298.3 |
KCNQ1 | rs120074195 | pathogenic | RCV000057800.2 |