VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH ORWITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CPVT1
VTSIP
Number of Symptoms 9
OrphanetNr:
OMIM Id: 604772
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(HPO:0001279) Syncope 94 / 7739
3
(HPO:0005110) Atrial fibrillation 71 / 7739
4
(OMIM) Atrial standstill 6 / 7739
5
(OMIM) Polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion 2 / 7739
6
(MedDRA:10049694) Left ventricular dysfunction 10 / 7739
7
(OMIM) Sinoatrial node dysfunction 1 / 7739
8
(OMIM) Left ventricular dilation 13 / 7739
9
(OMIM) Atrioventricular node dysfunction (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with ...
Clinical Description OMIM Catecholaminergic polymorphic ventricular tachycardia (CPVT) occurring in the structurally intact heart was described by Coumel et al. (1978) and by Leenhardt et al. (1995) as a distinct clinical entity with manifestations in childhood and adolescence. Affected individuals present ...
Molecular genetics OMIM On the basis of the typical electrocardiographic pattern in this disorder and on the hypothesis that delayed afterdepolarizations underlie the arrhythmia in this disorder, as well as the map location of the clinical phenotype, Priori et al. (2001) ...