Disease #01597

Official abbreviation CPVT
Name tachycardia, ventricular (CPVT)
OMIM ID 192605
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene GNAI2
Associated tissues -
Disease features -
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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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
00266726 - PubMed: El Malti 2016 - - - - - - 0 - - ASD-7, CMD, CPVT, SUD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266727 - PubMed: El Malti 2016 - - - - - - 0 - - ASD-7, CMD, CPVT, SUD - NKX2-5 NKX2-5 1 1 Liliana DAIN
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