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Familial hypertrophic cardiomyopathy 2(CMH2)

MedGen UID:
349383
Concept ID:
C1861864
Disease or Syndrome
Synonyms: CMH2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
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): TNNT2 (1q32.1)
OMIM®: 115195

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

Additional description

From GHR
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.  https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy

Clinical features

Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
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,  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

Weissler-Snir A, Hindieh W, Gruner C, Fourey D, Appelbaum E, Rowin E, Care M, Lesser JR, Haas TS, Udelson JE, Manning WJ, Olivotto I, Tomberli B, Maron BJ, Maron MS, Crean AM, Rakowski H, Chan RH
Circ Cardiovasc Imaging 2017 Feb;10(2) doi: 10.1161/CIRCIMAGING.116.005311. PMID: 28193612
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
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. 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
Chiu C, Tebo M, Ingles J, Yeates L, Arthur JW, Lind JM, Semsarian C
J Mol Cell Cardiol 2007 Sep;43(3):337-43. Epub 2007 Jun 30 doi: 10.1016/j.yjmcc.2007.06.009. PMID: 17655857

Diagnosis

Robertson IM, Sevrieva I, Li MX, Irving M, Sun YB, Sykes BD
J Mol Cell Cardiol 2015 Oct;87:257-69. Epub 2015 Sep 1 doi: 10.1016/j.yjmcc.2015.08.017. PMID: 26341255Free PMC Article
Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I
Circ Cardiovasc Genet 2014 Dec;7(6):741-50. Epub 2014 Aug 30 doi: 10.1161/CIRCGENETICS.113.000486. PMID: 25173926
Muthu P, Liang J, Schmidt W, Moore JR, Szczesna-Cordary D
Arch Biochem Biophys 2014 Jun 15;552-553:29-39. Epub 2013 Dec 26 doi: 10.1016/j.abb.2013.12.011. PMID: 24374283Free PMC Article
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. PMID: 23748425Free PMC Article
Kraft T, Witjas-Paalberends ER, Boontje NM, Tripathi S, Brandis A, Montag J, Hodgkinson JL, Francino A, Navarro-Lopez F, Brenner B, Stienen GJ, van der Velden J
J Mol Cell Cardiol 2013 Apr;57:13-22. Epub 2013 Jan 11 doi: 10.1016/j.yjmcc.2013.01.001. PMID: 23318932

Therapy

Weissler-Snir A, Hindieh W, Gruner C, Fourey D, Appelbaum E, Rowin E, Care M, Lesser JR, Haas TS, Udelson JE, Manning WJ, Olivotto I, Tomberli B, Maron BJ, Maron MS, Crean AM, Rakowski H, Chan RH
Circ Cardiovasc Imaging 2017 Feb;10(2) doi: 10.1161/CIRCIMAGING.116.005311. PMID: 28193612
Berruezo A, Penela D, Burgos F, Evertz R, Fernández-Armenta J, Roca J, Doltra A, Acosta J, Francino A, Sitges M, Alsina X, Ordoñez A, Villuendas R, Brugada R, Mont L, Brugada J
Heart Rhythm 2015 May;12(5):909-16. Epub 2015 Jan 23 doi: 10.1016/j.hrthm.2015.01.032. PMID: 25623178
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
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. PMID: 21840315Free 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. PMID: 20854827Free PMC Article

Prognosis

Weissler-Snir A, Hindieh W, Gruner C, Fourey D, Appelbaum E, Rowin E, Care M, Lesser JR, Haas TS, Udelson JE, Manning WJ, Olivotto I, Tomberli B, Maron BJ, Maron MS, Crean AM, Rakowski H, Chan RH
Circ Cardiovasc Imaging 2017 Feb;10(2) doi: 10.1161/CIRCIMAGING.116.005311. PMID: 28193612
Selvi Rani D, Nallari P, Dhandapany PS, Rani J, Meraj K, Ganesan M, Narasimhan C, Thangaraj K
DNA Cell Biol 2015 May;34(5):350-9. Epub 2015 Jan 21 doi: 10.1089/dna.2014.2650. PMID: 25607779
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
Buck PC, Fernandes F, Arteaga E, Matsumoto AY, Araujo AQ, Oliveira EM, Ianni BM, Ramires FJ, Krieger JE, Mady C
Braz J Med Biol Res 2009 Aug;42(8):717-21. Epub 2009 Apr 24 PMID: 19390744
Kerrick WG, Kazmierczak K, Xu Y, Wang Y, Szczesna-Cordary D
FASEB J 2009 Mar;23(3):855-65. Epub 2008 Nov 5 doi: 10.1096/fj.08-118182. PMID: 18987303Free PMC Article

Clinical prediction guides

Robertson IM, Sevrieva I, Li MX, Irving M, Sun YB, Sykes BD
J Mol Cell Cardiol 2015 Oct;87:257-69. Epub 2015 Sep 1 doi: 10.1016/j.yjmcc.2015.08.017. PMID: 26341255Free PMC Article
Han L, Li Y, Tchao J, Kaplan AD, Lin B, Li Y, Mich-Basso J, Lis A, Hassan N, London B, Bett GC, Tobita K, Rasmusson RL, Yang L
Cardiovasc Res 2014 Nov 1;104(2):258-69. Epub 2014 Sep 10 doi: 10.1093/cvr/cvu205. PMID: 25209314Free PMC Article
Muthu P, Liang J, Schmidt W, Moore JR, Szczesna-Cordary D
Arch Biochem Biophys 2014 Jun 15;552-553:29-39. Epub 2013 Dec 26 doi: 10.1016/j.abb.2013.12.011. PMID: 24374283Free PMC Article
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. PMID: 23748425Free PMC Article
Abraham TP, Jones M, Kazmierczak K, Liang HY, Pinheiro AC, Wagg CS, Lopaschuk GD, Szczesna-Cordary D
Cardiovasc Res 2009 Apr 1;82(1):84-92. Epub 2009 Jan 15 doi: 10.1093/cvr/cvp016. PMID: 19150977Free PMC Article

Recent systematic reviews

Baxi AJ, Restrepo CS, Vargas D, Marmol-Velez A, Ocazionez D, Murillo H
Radiographics 2016 Mar-Apr;36(2):335-54. doi: 10.1148/rg.2016150137. PMID: 26963450
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
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
Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, Rocco C, Tesson F, Richter A, Wilke A, Komajda M
Eur Heart J 1999 Jan;20(2):93-102. PMID: 10099905

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