Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018799 (
heart disease
)
34,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is induced by emotions or exercise in patients without organic
heart disease
and may be polymorphic or bidirectional in nature. The prognosis of CPVT is not good, and therefore prevention of sudden death is of utmost importance. Genetic variants of CPVT include
RyR2
,
CASQ2
,
CALM2
,
TRD
, and possibly
KCNJ2
and
ANK2
gene mutations. Hypotheses that suggest the causes of CPVT include weakened binding of FKBP12.6 and
RyR2
, a store overload-induced Ca
2+
release (SOICR), unzipping of intramolecular domain interactions in
RyR2
, and molecular and functional abnormalities caused by mutations in the
CASQ2
gene. The incidence of an
RyR2
anomaly in CPVTs is about 35-79%, whereas anomalies in the
CASQ2
gene account for 3-5% CPVTs. The ping-pong theory, suggesting that reciprocating delayed after depolarization induces bigeminy of the right and left bundle branches, may explain the pathogenesis of bidirectional ventricular tachycardia. Flecainide, carvedilol, left sympathetic nerve denervation, and catheter ablation of the PVC may serve as new therapeutic strategies for CPVT while gene-therapy may be applied to some types of CPVT in the future. Although, not all sudden cardiac deaths in CPVT patients are currently preventable, new medical and interventional therapies may improve CPVT prognosis.
...
PMID:Current topics in catecholaminergic polymorphic ventricular tachycardia. 2776 Nov 57
