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Familial hypertrophic cardiomyopathy 3(CMH3)

MedGen UID:
349382
Concept ID:
C1861863
Disease or Syndrome
Synonyms: Cardiomyopathy, familial hypertrophic, 3; CMH3; TPM1-Related Familial Hypertrophic Cardiomyopathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
 
Gene: TPM1
Cytogenetic locations: 15q22.2; Xp22.33; Yp11.32
OMIM: 115196

Disease characteristics

Excerpted from the GeneReview: Hypertrophic Cardiomyopathy Overview
Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Genetics of Hypertrophic Cardiomyopathy  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Allison L Cirino  |  Carolyn Ho   view full author information

Clinical features

Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
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. [Epub ahead of print] PMID: 21267010Free PMC Article

Recent clinical studies

Etiology

Kobayashi T, Dhillon A, Popovic Z, Bhonsale A, Smedira NG, Thamilarasan M, Lytle BW, Lever HM, Desai MY
Am J Cardiol 2014 Jun 1;113(11):1879-85. Epub 2014 Mar 18 doi: 10.1016/j.amjcard.2014.03.020. [Epub ahead of print] PMID: 24837268
Subasic K
J Nurs Scholarsh 2013 Dec;45(4):371-9. Epub 2013 Jul 1 doi: 10.1111/jnu.12040. [Epub ahead of print] PMID: 23815576
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 [Epub ahead of print] PMID: 22112859
Gaffin RD, Peña JR, Alves MS, Dias FA, Chowdhury SA, Heinrich LS, Goldspink PH, Kranias EG, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2011 Nov;51(5):812-20. Epub 2011 Aug 5 doi: 10.1016/j.yjmcc.2011.07.026. [Epub ahead of print] PMID: 21840315Free PMC Article
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

Diagnosis

Kobayashi T, Dhillon A, Popovic Z, Bhonsale A, Smedira NG, Thamilarasan M, Lytle BW, Lever HM, Desai MY
Am J Cardiol 2014 Jun 1;113(11):1879-85. Epub 2014 Mar 18 doi: 10.1016/j.amjcard.2014.03.020. [Epub ahead of print] PMID: 24837268
Subasic K
J Nurs Scholarsh 2013 Dec;45(4):371-9. Epub 2013 Jul 1 doi: 10.1111/jnu.12040. [Epub ahead of print] PMID: 23815576
Kazmierczak K, Paulino EC, Huang W, Muthu P, Liang J, Yuan CC, Rojas AI, Hare JM, Szczesna-Cordary D
Am J Physiol Heart Circ Physiol 2013 Aug 15;305(4):H575-89. Epub 2013 Jun 7 doi: 10.1152/ajpheart.00107.2013. [Epub ahead of print] PMID: 23748425Free PMC Article
Ly S, Lehrer SS
Biochemistry 2012 Aug 14;51(32):6413-20. Epub 2012 Aug 1 doi: 10.1021/bi3006835. [Epub ahead of print] PMID: 22794249Free PMC Article
Peña JR, Szkudlarek AC, Warren CM, Heinrich LS, Gaffin RD, Jagatheesan G, del Monte F, Hajjar RJ, Goldspink PH, Solaro RJ, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2010 Dec;49(6):993-1002. Epub 2010 Sep 18 doi: 10.1016/j.yjmcc.2010.09.010. [Epub ahead of print] PMID: 20854827Free PMC Article

Therapy

Kobayashi T, Dhillon A, Popovic Z, Bhonsale A, Smedira NG, Thamilarasan M, Lytle BW, Lever HM, Desai MY
Am J Cardiol 2014 Jun 1;113(11):1879-85. Epub 2014 Mar 18 doi: 10.1016/j.amjcard.2014.03.020. [Epub ahead of print] PMID: 24837268
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. [Epub ahead of print] PMID: 23674365
Gaffin RD, Peña JR, Alves MS, Dias FA, Chowdhury SA, Heinrich LS, Goldspink PH, Kranias EG, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2011 Nov;51(5):812-20. Epub 2011 Aug 5 doi: 10.1016/j.yjmcc.2011.07.026. [Epub ahead of print] PMID: 21840315Free PMC Article
Christiaans I, Birnie E, Bonsel GJ, Mannens MM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PG, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden AT, Houweling AC, de Boer K, van der Smagt JJ, Hauer RN, Marcelis CL, Timmermans J, van Langen IM, Wilde AA
Eur Heart J 2011 May;32(9):1161-70. Epub 2011 Apr 1 doi: 10.1093/eurheartj/ehr092. [Epub ahead of print] PMID: 21459882
Peña JR, Szkudlarek AC, Warren CM, Heinrich LS, Gaffin RD, Jagatheesan G, del Monte F, Hajjar RJ, Goldspink PH, Solaro RJ, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2010 Dec;49(6):993-1002. Epub 2010 Sep 18 doi: 10.1016/j.yjmcc.2010.09.010. [Epub ahead of print] PMID: 20854827Free PMC Article

Prognosis

Kobayashi T, Dhillon A, Popovic Z, Bhonsale A, Smedira NG, Thamilarasan M, Lytle BW, Lever HM, Desai MY
Am J Cardiol 2014 Jun 1;113(11):1879-85. Epub 2014 Mar 18 doi: 10.1016/j.amjcard.2014.03.020. [Epub ahead of print] PMID: 24837268
Subasic K
J Nurs Scholarsh 2013 Dec;45(4):371-9. Epub 2013 Jul 1 doi: 10.1111/jnu.12040. [Epub ahead of print] PMID: 23815576
Abraham MR, Bottomley PA, Dimaano VL, Pinheiro A, Steinberg A, Traill TA, Abraham TP, Weiss RG
Am J Cardiol 2013 Sep 15;112(6):861-6. Epub 2013 Jun 7 doi: 10.1016/j.amjcard.2013.05.017. [Epub ahead of print] PMID: 23751935Free PMC Article
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. [Epub ahead of print] PMID: 23674365
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. [Epub ahead of print] PMID: 21959974

Clinical prediction guides

Kazmierczak K, Paulino EC, Huang W, Muthu P, Liang J, Yuan CC, Rojas AI, Hare JM, Szczesna-Cordary D
Am J Physiol Heart Circ Physiol 2013 Aug 15;305(4):H575-89. Epub 2013 Jun 7 doi: 10.1152/ajpheart.00107.2013. [Epub ahead of print] PMID: 23748425Free PMC Article
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. [Epub ahead of print] PMID: 23674365
Kazmierczak K, Muthu P, Huang W, Jones M, Wang Y, Szczesna-Cordary D
Biochem J 2012 Feb 15;442(1):95-103. doi: 10.1042/BJ20111145. PMID: 22091967
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. [Epub ahead of print] PMID: 21959974
Abid A, Akhtar N, Khaliq S, Mehdi SQ
J Coll Physicians Surg Pak 2011 Apr;21(4):202-6. doi: 04.2011/JCPSP.202206. PMID: 21453614

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. [Epub ahead of print] PMID: 23674365
Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ
Rev Port Cardiol 2005 Dec;24(12):1463-76. PMID: 16566405

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