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Familial hypertrophic cardiomyopathy 1(CMH1)

MedGen UID:
501195
Concept ID:
C3495498
Disease or Syndrome
Synonyms: Cardiomyopathy, familial hypertrophic; CAV3-Related Hypertrophic Cardiomyopathy; CMH1; MYH7-Related Familial Hypertrophic Cardiomyopathy
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)
 
Genes (locations): CAV3 (3p25.3); MYH6 (14q11.2); MYH7 (14q11.2); MYLK2 (20q11.21)
OMIM®: 192600

Definition

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 GTR]

Additional descriptions

From GeneReviews
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

Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Asymmetric septal hypertrophy
MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Subaortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
ECG abnormality
MedGen UID:
321993
Concept ID:
C1832603
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

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
Authors/Task Force members., Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H
Eur Heart J 2014 Oct 14;35(39):2733-79. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu284. PMID: 25173338
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
Posch MG, Thiemann L, Tomasov P, Veselka J, Cardim N, Garcia-Castro M, Coto E, Perrot A, Geier C, Dietz R, Haverkamp W, Ozcelik C
Med Sci Monit 2008 Jul;14(7):CR372-4. PMID: 18591919

Diagnosis

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y
BMC Cardiovasc Disord 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y. PMID: 27160240Free PMC Article
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
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
Smolik S, Domal-Kwiatkowska D, Kapral M, Weglarz L
Acta Pol Pharm 2010 Nov-Dec;67(6):669-72. PMID: 21229884

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
Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y
BMC Cardiovasc Disord 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y. PMID: 27160240Free PMC Article
Guo Q, Xu Y, Wang X, Guo Y, Xu R, Sun K, Chen S
DNA Cell Biol 2014 Oct;33(10):699-704. Epub 2014 Jun 25 doi: 10.1089/dna.2014.2483. PMID: 24963656Free PMC Article
Guler A, Tigen KM, Aung SM, Karabay CY, Karaahmet T, Kirma C
Tex Heart Inst J 2012;39(1):138-9. PMID: 22412250Free PMC Article
Smolik S, Domal-Kwiatkowska D, Kapral M, Weglarz L
Acta Pol Pharm 2010 Nov-Dec;67(6):669-72. PMID: 21229884

Clinical prediction guides

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y
BMC Cardiovasc Disord 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y. PMID: 27160240Free PMC Article
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
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
Smolik S, Domal-Kwiatkowska D, Kapral M, Weglarz L
Acta Pol Pharm 2010 Nov-Dec;67(6):669-72. PMID: 21229884
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

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
Fatkin D; CSANZ Cardiovascular Genetics Working Group.
Heart Lung Circ 2007 Feb;16(1):19-21. Epub 2006 Dec 26 doi: 10.1016/j.hlc.2006.10.018. PMID: 17188933
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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