Disease #01597

Official abbreviation CPVT
Name tachycardia, ventricular (CPVT)
OMIM ID 192605
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene GNAI2
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00210693 22422768-Fam1II1 PubMed: Roux-Buisson 2012 2-generation family, 1 affected (unaffected carrier parents and brother) M no - French West Indies 2y 0 - - CPVT resting ECG following cardiac resuscitation numerous polymorphic or bidirectional ventricular extra beats/runs of polymorphic ventricular tachycardia; 2y-died in hospital after 3 weeks after severe post-anoxic com TRDN TRDN 2 1 Johan den Dunnen
00210694 22422768-Fam2II2 PubMed: Roux-Buisson 2012 3-generation family, affected twin brothers (unaffectedchild, parents not tested) M no France - >26y 0 - - CPVT onset in infancy; 26y-resting ECG normal, no prolongation QT-interval, exercise testing numerous bidirectional ventricular extra beats, proximal muscle weakness TRDN TRDN 2 1 Johan den Dunnen
00210695 22422768-Fam2II3 PubMed: Roux-Buisson 2012 3-generation family, affected twin brothers (unaffectedchild, parents not tested) M no France - >26y 0 - - CPVT clinical examination shows CPVT TRDN TRDN 2 1 Johan den Dunnen
Legend