KEGG   DISEASE: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Entry
H02848                      Disease                                
Name
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Description
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is a previously unknown disease entity characterized by sudden cardiac death with normal exercise stress testing (EST). It has been reported that VACRDS is caused by loss of function mutations in RYR2 that encodes the cardiac ryanodine receptor. RYR2 governs the release of calcium from the sarcoplasmic reticulum (SR), which is essential for excitation-contraction coupling in the heart.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   Ventricular rhythm disturbance
    BC7Y  Other specified ventricular rhythm disturbance
     H02848  Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Gene
RYR2 [HSA:6262] [KO:K04962]
Other DBs
ICD-11: BC7Y
OMIM: 115000
Reference
PMID:33536282
  Authors
Sun B, Yao J, Ni M, Wei J, Zhong X, Guo W, Zhang L, Wang R, Belke D, Chen YX, Lieve KVV, Broendberg AK, Roston TM, Blankoff I, Kammeraad JA, von Alvensleben JC, Lazarte J, Vallmitjana A, Bohne LJ, Rose RA, Benitez R, Hove-Madsen L, Napolitano C, Hegele RA, Fill M, Sanatani S, Wilde AAM, Roberts JD, Priori SG, Jensen HK, Chen SRW
  Title
Cardiac ryanodine receptor calcium release deficiency syndrome.
  Journal
Sci Transl Med 13:eaba7287 (2021)
DOI:10.1126/scitranslmed.aba7287
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