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Familial hypertrophic cardiomyopathy 4(CMH4)

MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
Synonyms: CMH4
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MYBPC3 (11p11.2)
OMIM®: 115197

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 descriptions

From GeneReviews 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.  https://www.ncbi.nlm.nih.gov/books/NBK1768
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
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
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. 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. PMID: 21267010Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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
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
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

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
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
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
Ly S, Lehrer SS
Biochemistry 2012 Aug 14;51(32):6413-20. Epub 2012 Aug 1 doi: 10.1021/bi3006835. PMID: 22794249Free 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

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
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

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
Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.
Heart 2017 May;103(9):672-678. Epub 2016 Oct 28 doi: 10.1136/heartjnl-2016-309672. PMID: 27794017
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
Nomura A, Konno T, Fujita T, Tanaka Y, Nagata Y, Tsuda T, Hodatsu A, Sakata K, Nakamura H, Kawashiri MA, Fujino N, Yamagishi M, Hayashi K
Circ J 2015;79(1):136-43. Epub 2014 Nov 7 doi: 10.1253/circj.CJ-14-0822. PMID: 25381793
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

Clinical prediction guides

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
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
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
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
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
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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