Disease #01597 (CPVT (tachycardia, ventricular (CPVT)), OMIM:192605)

Official abbreviation CPVT
Name tachycardia, ventricular (CPVT)
OMIM ID 192605
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 2 genes GNAI2, TECRL
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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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 - - - 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 - - - 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 - - - CPVT clinical examination shows CPVT TRDN TRDN 2 1 Johan den Dunnen
00266727 - PubMed: El Malti 2016 - - - - - - - - - ASD7, CMD, CPVT, SUD - NKX2-5 NKX2-5 1 1 Liliana Dain
00469722 Pat1 PubMed: Devalla 2016 - F yes Canada French-Canadian - - - - CPVT see paper; ..., 22y-ventricular fibrillation, cardiac arrest; ECG normal QT interval, isoproterenol infusion resulted in QT prolongation; recurrent episodes exercise‐/emotion‐induced atrial/ventricular arrhythmias - TECRL 1 1 Johan den Dunnen
00469728 FamPatII1 PubMed: Xie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - CPVT see paper; ..., intermittent palpitations, three syncope episodes triggered by emotional stress/exercises; ECG resting normal, no prolonged QT interval - TECRL 2 1 Johan den Dunnen
00469729 Fam1Pat1 PubMed: Moscu-Gregor 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany white - - - - CPVT see paper; ... - TECRL 1 1 Johan den Dunnen
00469730 Fam2Pat2 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F - Germany - - - - - CPVT see paper; ... - TECRL 2 1 Johan den Dunnen
00469731 Fam3Pat3/4 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F;M - Germany - - - - - CPVT see paper; ... - TECRL 1 2 Johan den Dunnen
00469732 Fam4Pat5 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, F - Germany - - - - - CPVT see paper; ... - EPHA5, TECRL 1 1 Johan den Dunnen
00469733 patient PubMed: Jones 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - CPVT see paper; ..., 12y-cardiac arrest; HP:0006682 (premature ventricular contractions), -HP:0001663 (no ventricular fibrillation), HP:0004751 (paroxysmal ventricular tachycardia), HP:0001695 (cardiac arrest), -HP:0001962 (no palpitations), HP:0001657 (prolonged QTc), HP:0000729 (autistic behavior), HP:0031195 (apical hypertrabeculation of the left ventricle TECRL TECRL 2 1 Johan den Dunnen
00469734 Pat12 PubMed: Kulbachinskaya 2024 - - - Russia - - - - - CPVT see paper; ... TECRL TECRL 1 1 Johan den Dunnen
00469735 patient PubMed: Chen 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - CPVT see paper; ..., sudden cardiopulmonary arrest; frequent ventricular fibrillation - TECRL 2 1 Johan den Dunnen
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