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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
Source: HPO
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 (location): MYL2 (12q24.11)
OMIM®: 608758

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:
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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation).
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. [Epub ahead of print] 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. [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

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. [Epub ahead of print] PMID: 24607033Free PMC Article
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
Bostan C, Sinan UY, Canbolat P, Abaci O, Munipoglu SK, Kucukoglu S
Echocardiography 2014 Oct;31(9):1056-61. Epub 2014 Feb 8 doi: 10.1111/echo.12537. [Epub ahead of print] PMID: 24506463
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. [Epub ahead of print] PMID: 22846097
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

Diagnosis

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. [Epub ahead of print] PMID: 24607033Free PMC Article
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
Bostan C, Sinan UY, Canbolat P, Abaci O, Munipoglu SK, Kucukoglu S
Echocardiography 2014 Oct;31(9):1056-61. Epub 2014 Feb 8 doi: 10.1111/echo.12537. [Epub ahead of print] PMID: 24506463
Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H
Circulation 2013 Jan 1;127(1):48-54. Epub 2012 Nov 28 doi: 10.1161/CIRCULATIONAHA.111.090514. [Epub ahead of print] PMID: 23197161
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. [Epub ahead of print] PMID: 22846097

Therapy

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. [Epub ahead of print] PMID: 24607033Free PMC Article
Trevino AR, Buergler J
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):34-7. PMID: 24932361Free PMC Article
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
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. [Epub ahead of print] PMID: 22846097
Cardim N, Perrot A, Ferreira T, Pereira A, Osterziel KJ, Reis RP, Correia JF
Am J Cardiol 2002 Jul 15;90(2):128-32. PMID: 12106841

Prognosis

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. [Epub ahead of print] 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. [Epub ahead of print] PMID: 24963656Free PMC Article
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
Bostan C, Sinan UY, Canbolat P, Abaci O, Munipoglu SK, Kucukoglu S
Echocardiography 2014 Oct;31(9):1056-61. Epub 2014 Feb 8 doi: 10.1111/echo.12537. [Epub ahead of print] PMID: 24506463
Di Domenico M, Casadonte R, Ricci P, Santini M, Frati G, Rizzo A, Carratelli CR, Lamberti M, Parrotta E, Quaresima B, Faniello CM, Costanzo F, Cuda G
J Cell Physiol 2012 Oct;227(10):3471-6. doi: 10.1002/jcp.24047. PMID: 22213221

Clinical prediction guides

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. [Epub ahead of print] PMID: 24607033Free PMC Article
Bostan C, Sinan UY, Canbolat P, Abaci O, Munipoglu SK, Kucukoglu S
Echocardiography 2014 Oct;31(9):1056-61. Epub 2014 Feb 8 doi: 10.1111/echo.12537. [Epub ahead of print] PMID: 24506463
Meyer T, Pankuweit S, Richter A, Maisch B, Ruppert V
Gene 2013 Sep 15;527(1):416-20. Epub 2013 Jun 29 doi: 10.1016/j.gene.2013.06.025. [Epub ahead of print] PMID: 23816408
Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H
Circulation 2013 Jan 1;127(1):48-54. Epub 2012 Nov 28 doi: 10.1161/CIRCULATIONAHA.111.090514. [Epub ahead of print] PMID: 23197161
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

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