KEGG   DISEASE: 肥大型心筋症
エントリ  
H00292                                                             

名称    
肥大型心筋症
概要    
Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.
カテゴリ  
心臓病
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  心疾患
   H00292  肥大型心筋症
ICD-11 による疾患分類 [BR:jp08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00292  肥大型心筋症
特定疾患 (難病) [jp08407.html]
 H00292
パスウェイ 
hsa05410  肥大型心筋症
関連パスウェイ
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
病因遺伝子 
MYH7 (mutation) [HSA:4625] [KO:K17751]
TNNT2 (mutation) [HSA:7139] [KO:K12045]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
TPM1 (mutation) [HSA:7168] [KO:K10373]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
MYL2 (mutation) [HSA:4633] [KO:K10351]
MYL3 (mutation) [HSA:4634] [KO:K12749]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TTN (mutation) [HSA:7273] [KO:K12567]
MYH6 (mutation) [HSA:4624] [KO:K17751]
PRKAG2 (mutation) [HSA:51422] [KO:K07200]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
VCL (mutation) [HSA:7414] [KO:K05700]
環境要因  
Athletic training
治療薬   
アミオダロン塩酸塩 [DR:D00636]
リンク   
ICD-11: BC43.1
ICD-10: I42
OMIM: 192600 115195 115197 115196 613690 608758 608751 612098 188840 613251 612098 600858 612124 613243 613255
文献    
  著者
Fatkin D, Graham RM
  タイトル
Molecular mechanisms of inherited cardiomyopathies.
  雑誌
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
文献    
  著者
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
  タイトル
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
  雑誌
Cardiovasc J S Afr 14:145-55 (2003)
文献    
  著者
Franz WM, Muller OJ, Katus HA
  タイトル
Cardiomyopathies: from genetics to the prospect of treatment.
  雑誌
Lancet 358:1627-37 (2001)
DOI:10.1016/S0140-6736(01)06657-0
文献    
  著者
Marian AJ, Roberts R
  タイトル
The molecular genetic basis for hypertrophic cardiomyopathy.
  雑誌
J Mol Cell Cardiol 33:655-70 (2001)
DOI:10.1006/jmcc.2001.1340
文献    
  著者
Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ
  タイトル
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
  雑誌
J Mol Cell Cardiol 45:281-8 (2008)
DOI:10.1016/j.yjmcc.2008.05.003
文献    
  著者
Vasile VC, Ommen SR, Edwards WD, Ackerman MJ
  タイトル
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
  雑誌
Biochem Biophys Res Commun 345:998-1003 (2006)
DOI:10.1016/j.bbrc.2006.04.151
文献    
PMID:15183628 (env_factor ,drug)
  著者
Elliott P, McKenna WJ
  タイトル
Hypertrophic cardiomyopathy.
  雑誌
Lancet 363:1881-91 (2004)
DOI:10.1016/S0140-6736(04)16358-7
文献    
PMID:18930982 (drug)
  著者
Soor GS, Luk A, Ahn E, Abraham JR, Woo A, Ralph-Edwards A, Butany J
  タイトル
Hypertrophic cardiomyopathy: current understanding and treatment objectives.
  雑誌
J Clin Pathol 62:226-35 (2009)
DOI:10.1136/jcp.2008.061655
文献    
PMID:19568388 (drug)
  著者
Marian AJ
  タイトル
Contemporary treatment of hypertrophic cardiomyopathy.
  雑誌
Tex Heart Inst J 36:194-204 (2009)
文献    
PMID:15123994 (drug)
  著者
Ommen SR, Nishimura RA
  タイトル
Hypertrophic cardiomyopathy.
  雑誌
Curr Probl Cardiol 29:239-91 (2004)
DOI:10.1016/j.cpcardiol.2004.01.001
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