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Familial hypertrophic cardiomyopathy 9(CMH9)

MedGen UID:
348780
Concept ID:
C1861065
Disease or Syndrome
Synonyms: CMH9
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TTN (2q31.2)
OMIM®: 613765

Clinical features

Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Pinto YM, Wilde AA, van Rijsingen IA, Christiaans I, Deprez RH, Elliott PM
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.243. PMID: 21267010Free PMC Article

Recent clinical studies

Etiology

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. PMID: 24607033Free PMC Article
Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, Kitaoka H, Nakamura H, Nakamura K, Okamoto H, Ichida F, Ayusawa M, Nunoda S, Isobe M, Matsuzaki M, Doi YL, Fukuda K, Sasaoka T, Izumi T, Ashizawa N, Kimura A
Circ J 2012;76(2):453-61. Epub 2011 Nov 23 PMID: 22112859
Wang J, Xu SJ, Zhou H, Wang LJ, Hu B, Fang F, Zhang XM, Luo YW, He XY, Zhuang SW, Li XM, Liu ZM, Hu DY
Clin Cardiol 2009 Sep;32(9):E16-21. doi: 10.1002/clc.20520. PMID: 19645038
Wei YL, Yu CA, Yang P, Li AL, Wen JY, Zhao SM, Liu HX, Ke YN, Campbell W, Zhang YG, Li XH, Liao WQ
Clin Exp Pharmacol Physiol 2009 Sep;36(9):933-9. Epub 2009 Mar 26 doi: 10.1111/j.1440-1681.2009.05183.x. PMID: 19473338
Kounas S, Demetrescu C, Pantazis AA, Keren A, Lee PJ, Hughes D, Mehta A, Elliott PM
J Am Coll Cardiol 2008 May 27;51(21):2058-61. doi: 10.1016/j.jacc.2008.02.046. PMID: 18498962

Diagnosis

Wong RC, Tan KB
Singapore Med J 2014 Dec;55(12):e201-4. PMID: 25630327Free PMC Article
Wang J, Xu SJ, Zhou H, Wang LJ, Hu B, Fang F, Zhang XM, Luo YW, He XY, Zhuang SW, Li XM, Liu ZM, Hu DY
Clin Cardiol 2009 Sep;32(9):E16-21. doi: 10.1002/clc.20520. PMID: 19645038
Wei YL, Yu CA, Yang P, Li AL, Wen JY, Zhao SM, Liu HX, Ke YN, Campbell W, Zhang YG, Li XH, Liao WQ
Clin Exp Pharmacol Physiol 2009 Sep;36(9):933-9. Epub 2009 Mar 26 doi: 10.1111/j.1440-1681.2009.05183.x. PMID: 19473338
Rodríguez JE, McCudden CR, Willis MS
Clin Biochem 2009 Jun;42(9):755-65. Epub 2009 Feb 9 doi: 10.1016/j.clinbiochem.2009.01.020. PMID: 19318019
Kounas S, Demetrescu C, Pantazis AA, Keren A, Lee PJ, Hughes D, Mehta A, Elliott PM
J Am Coll Cardiol 2008 May 27;51(21):2058-61. doi: 10.1016/j.jacc.2008.02.046. PMID: 18498962

Therapy

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. PMID: 24607033Free PMC Article
Forsey J, Benson L, Rozenblyum E, Friedberg MK, Mertens L
J Am Soc Echocardiogr 2014 Feb;27(2):215-21. Epub 2013 Dec 8 doi: 10.1016/j.echo.2013.10.012. PMID: 24325958
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
Kounas S, Demetrescu C, Pantazis AA, Keren A, Lee PJ, Hughes D, Mehta A, Elliott PM
J Am Coll Cardiol 2008 May 27;51(21):2058-61. doi: 10.1016/j.jacc.2008.02.046. PMID: 18498962
Wang P, Zou Y, Fu C, Zhou X, Hui R
Biochem Biophys Res Commun 2005 Apr 8;329(2):796-9. doi: 10.1016/j.bbrc.2005.02.004. PMID: 15737656

Prognosis

Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM
Cardiovasc J Afr 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075. PMID: 27841901Free PMC Article
Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. PMID: 24607033Free PMC Article
Forsey J, Benson L, Rozenblyum E, Friedberg MK, Mertens L
J Am Soc Echocardiogr 2014 Feb;27(2):215-21. Epub 2013 Dec 8 doi: 10.1016/j.echo.2013.10.012. PMID: 24325958
Bashyam MD, Purushotham G, Chaudhary AK, Rao KM, Acharya V, Mohammad TA, Nagarajaram HA, Hariram V, Narasimhan C
Mol Cell Biochem 2012 Jan;360(1-2):373-82. Epub 2011 Sep 29 doi: 10.1007/s11010-011-1077-x. PMID: 21959974
Wang J, Xu SJ, Zhou H, Wang LJ, Hu B, Fang F, Zhang XM, Luo YW, He XY, Zhuang SW, Li XM, Liu ZM, Hu DY
Clin Cardiol 2009 Sep;32(9):E16-21. doi: 10.1002/clc.20520. PMID: 19645038

Clinical prediction guides

Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM
Cardiovasc J Afr 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075. PMID: 27841901Free PMC Article
Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. PMID: 24607033Free PMC Article
Forsey J, Benson L, Rozenblyum E, Friedberg MK, Mertens L
J Am Soc Echocardiogr 2014 Feb;27(2):215-21. Epub 2013 Dec 8 doi: 10.1016/j.echo.2013.10.012. PMID: 24325958
Bashyam MD, Purushotham G, Chaudhary AK, Rao KM, Acharya V, Mohammad TA, Nagarajaram HA, Hariram V, Narasimhan C
Mol Cell Biochem 2012 Jan;360(1-2):373-82. Epub 2011 Sep 29 doi: 10.1007/s11010-011-1077-x. PMID: 21959974
Kounas S, Demetrescu C, Pantazis AA, Keren A, Lee PJ, Hughes D, Mehta A, Elliott PM
J Am Coll Cardiol 2008 May 27;51(21):2058-61. doi: 10.1016/j.jacc.2008.02.046. PMID: 18498962

Recent systematic reviews

Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365

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