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Familial hypertrophic cardiomyopathy 10(CMH10)

MedGen UID:
331754
Concept ID:
C1834460
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2; CMH10; MYL2-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)
 
Gene (location): MYL2 (12q24.11)
OMIM®: 608758

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 description

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

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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
Left ventricular septal hypertrophy
MedGen UID:
375564
Concept ID:
C1845019
Finding

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
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
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
Bashyam MD, Savithri GR, Gopikrishna M, Narasimhan C
Can J Cardiol 2007 Aug;23(10):788-90. PMID: 17703256Free PMC Article

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
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
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
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

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
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
Fitzgerald NM, Sherwood M, Fitzgerald DA
J Paediatr Child Health 2012 Oct;48(10):E156-60. Epub 2012 Jul 29 doi: 10.1111/j.1440-1754.2012.02504.x. PMID: 22846097
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
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
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
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

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
Borejdo J, Szczesna-Cordary D, Muthu P, Calander N
Biochemistry 2010 Jun 29;49(25):5269-77. doi: 10.1021/bi1006749. PMID: 20509708Free 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
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

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