Romano-Ward syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
Romano-Ward long QT syndrome |
Number of Symptoms | 15 |
OrphanetNr: | 101016 |
OMIM Id: |
192500
600919 603830 611818 611819 611820 612955 613485 613688 613693 613695 |
ICD-10: |
I45.8 |
UMLs: |
C0035828 |
MeSH: |
D029597 |
MedDRA: |
10039211 |
Snomed: |
20852007 |
Prevalence, inheritance and age of onset:
Prevalence: | < 50 of 100 000 |
Inheritance: |
Autosomal dominant 21907427 [IBIS] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial long QT syndrome
-Rare cardiac disease -Rare genetic disease |
Comment:
Romano-Ward syndrome is a sub-type of familial long QT syndrome. It has an exclusively cardiac phenotype and is the most prevalent heritable LQTS (PMID:21907427). Affected persons generally have milder symptoms (PMID:9164812). |
Symptom Information:
|
(HPO:0005135) | EKG: T-wave abnormalities | 3812233 | IBIS | 19 / 7739 | ||
|
(HPO:0012266) | T-wave alternans | 7211678 | IBIS | 8 / 7739 | ||
|
(HPO:0001657) | Prolonged QT interval | Very frequent [IBIS] | 9164812 | IBIS | 33 / 7739 | |
|
(HPO:0001662) | Bradycardia | 8551477 | IBIS | 41 / 7739 | ||
|
(HPO:0001692) | Primary atrial arrhythmia | 19017345 | IBIS | 16 / 7739 | ||
|
(HPO:0004756) | Ventricular tachycardia | 15875139 | IBIS | 55 / 7739 | ||
|
(HPO:0004308) | Ventricular arrhythmia | 15875139 | IBIS | 46 / 7739 | ||
|
(HPO:0001664) | Torsade de pointes | 15875139 | IBIS | 15 / 7739 | ||
|
(HPO:0001663) | Ventricular fibrillation | 15875139 | IBIS | 35 / 7739 | ||
|
(HPO:0001678) | Atrioventricular block | 7211678 | IBIS | 59 / 7739 | ||
|
(HPO:0001695) | Cardiac arrest | 9164812 | IBIS | 87 / 7739 | ||
|
(HPO:0001645) | Sudden cardiac death | Rare [IBIS] | 4% (n=131) | 3449505 | IBIS | 84 / 7739 |
|
(HPO:0001279) | Syncope | Occasional [IBIS] | 11% (n=131) | 3449505 | IBIS | 94 / 7739 |
|
(HPO:0001250) | Seizures | 9164812 | IBIS | 1245 / 7739 | ||
|
(HPO:0011097) | Epileptic spasms | 1436449 | IBIS | 45 / 7739 |
Associated genes:
KCNQ1; KCNH2; SCN5A; ANK2; KCNE1; KCNE2; CAV3; SCN4B; AKAP9; SNTA1; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
CALM2 | rs398124647 | likely pathogenic | RCV000143836.1 |
CALM2 | rs398124647 | likely pathogenic | RCV000143837.1 |
CALM2 | rs398124648 | likely pathogenic | RCV000143838.1 |
CALM2 | rs398124649 | likely pathogenic | RCV000143840.1 |
CALM2 | rs398124650 | likely pathogenic | RCV000143839.1 |
KCNQ1 | rs104894252 | pathogenic | RCV000003261.2 |
KCNQ1 | rs120074177 | pathogenic | RCV000003260.2 |
KCNQ1 | rs120074178 | pathogenic | RCV000003264.2 |
KCNQ1 | rs120074179 | pathogenic | RCV000003265.2 |
KCNQ1 | rs120074180 | pathogenic | RCV000003266.2 |
KCNQ1 | rs120074181 | pathogenic | RCV000003262.2 |
KCNQ1 | rs120074182 | pathogenic | RCV000003263.2 |
KCNQ1 | rs120074183 | pathogenic | RCV000003270.2 |
KCNQ1 | rs120074184 | pathogenic | RCV000003271.2 |
KCNQ1 | rs120074185 | pathogenic | RCV000003274.2 |
KCNQ1 | rs120074187 | pathogenic | RCV000003276.2 |
KCNQ1 | rs120074190 | pathogenic | RCV000003288.2 |
KCNQ1 | rs120074191 | pathogenic | RCV000003290.3 |
KCNQ1 | rs120074193 | pathogenic | RCV000003294.2 |
KCNQ1 | rs120074194 | pathogenic | RCV000003295.2 |
KCNQ1 | rs12720459 | pathogenic | RCV000003267.2 |
KCNQ1 | rs12720459 | pathogenic | RCV000003269.2 |
KCNQ1 | rs151344631 | pathogenic | RCV000030815.2 |
KCNQ1 | rs17221854 | pathogenic | RCV000003291.2 |
KCNQ1 | rs1800171 | pathogenic | RCV000003283.2 |
KCNQ1 | rs199472709 | pathogenic | RCV000115008.2 |
KCNQ1 | rs199472776 | likely pathogenic | RCV000203070.1 |
KCNQ1 | rs199473480 | pathogenic | RCV000174453.1 |
KCNQ1 | rs267607197 | pathogenic | RCV000003296.2 |
KCNQ1 | rs387906290 | pathogenic | RCV000003282.2 |
KCNQ1 | rs397508105 | pathogenic | RCV000003284.3 |
KCNQ1 | rs397508115 | pathogenic | RCV000003297.2 |
KCNQ1 | rs587776555 | pathogenic | RCV000003278.2 |
KCNQ1 | rs794728583 | pathogenic | RCV000193564.1 |