KEGG   DISEASE: Restrictive cardiomyopathyHelp
Entry
H01219                      Disease                                

Name
Restrictive cardiomyopathy
Description
Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes for desmin, alpha-actin, troponin I and troponin T.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01219  Restrictive cardiomyopathy
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H01219  Restrictive cardiomyopathy
BRITE hierarchy
Pathway
hsa04260  Cardiac muscle contraction
Gene
DES (mutation) [HSA:1674] [KO:K07610]
ACTC (mutation) [HSA:70] [KO:K12314]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
TNNT2 (mutation) [HSA:7139] [KO:K12045]
Other DBs
ICD-11: BC43.2
ICD-10: I42
OMIM: 115210 612422
Reference
  Authors
Parvatiyar MS, Pinto JR, Dweck D, Potter JD
  Title
Cardiac troponin mutations and restrictive cardiomyopathy.
  Journal
J Biomed Biotechnol 2010:350706 (2010)
DOI:10.1155/2010/350706
Reference
  Authors
Arimura T, Hayashi T, Kimura A
  Title
Molecular etiology of idiopathic cardiomyopathy.
  Journal
Acta Myol 26:153-8 (2007)
Reference
  Authors
Gomes AV, Potter JD
  Title
Molecular and cellular aspects of troponin cardiomyopathies.
  Journal
Ann N Y Acad Sci 1015:214-24 (2004)
DOI:10.1196/annals.1302.018

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