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Familial hypertrophic cardiomyopathy 8(CMH8)

MedGen UID:
324806
Concept ID:
C1837471
Disease or Syndrome
Synonyms: Cardiomyopathy, familial hypertrophic, 8; CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1; CMH8; MYL3-Related Familial Hypertrophic Cardiomyopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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: MYL3
Cytogenetic location: 3p21.31
OMIM: 608751

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

Restrictive cardiomyopathy
MedGen UID:
368785
Concept ID:
C1963079
Finding
Restrictive cardiomyopathy resulting from a known treatment.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
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.
Endocardial fibrosis
MedGen UID:
505950
Concept ID:
CN005821
Finding
The presence of excessive connective tissue in the `endocardium` (FMA:7280).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

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

Brito D, Miltenberger-Miltenyi G, Vale Pereira S, Silva D, Diogo AN, Madeira H
Rev Port Cardiol 2012 Sep;31(9):577-87. Epub 2012 Aug 2 doi: 10.1016/j.repc.2011.12.020. [Epub ahead of print] PMID: 22857948
Maron BJ, Maron MS, Semsarian C
J Am Coll Cardiol 2012 Aug 21;60(8):705-15. Epub 2012 Jul 11 doi: 10.1016/j.jacc.2012.02.068. [Epub ahead of print] PMID: 22796258
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
Campbell SG, McCulloch AD
J R Soc Interface 2011 Nov 7;8(64):1550-61. Epub 2011 Aug 10 doi: 10.1098/rsif.2011.0184. [Epub ahead of print] PMID: 21831889Free 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

Diagnosis

Brito D, Miltenberger-Miltenyi G, Vale Pereira S, Silva D, Diogo AN, Madeira H
Rev Port Cardiol 2012 Sep;31(9):577-87. Epub 2012 Aug 2 doi: 10.1016/j.repc.2011.12.020. [Epub ahead of print] PMID: 22857948
Maron BJ, Maron MS, Semsarian C
J Am Coll Cardiol 2012 Aug 21;60(8):705-15. Epub 2012 Jul 11 doi: 10.1016/j.jacc.2012.02.068. [Epub ahead of print] PMID: 22796258
Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H
Neuromuscul Disord 2012 Aug;22(8):747-54. Epub 2012 May 4 doi: 10.1016/j.nmd.2012.03.011. [Epub ahead of print] PMID: 22560514
Ingles J, McGaughran J, Scuffham PA, Atherton J, Semsarian C
Heart 2012 Apr;98(8):625-30. Epub 2011 Nov 29 doi: 10.1136/heartjnl-2011-300368. [Epub ahead of print] PMID: 22128210
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

Harv Heart Lett 2011 Apr;21(8):4-6. PMID: 21560288
Beadle R, Williams L
Expert Rev Cardiovasc Ther 2010 Dec;8(12):1767-75. doi: 10.1586/erc.10.156. PMID: 21108558
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
Charron P, Dubourg O, Desnos M, Bouhour JB, Isnard R, Hagege A, Carrier L, Bonne G, Tesson F, Richard P, Hainque B, Schwartz K, Komajda M
Eur Heart J 1998 Sep;19(9):1377-82. PMID: 9792264
Spindler M, Saupe KW, Christe ME, Sweeney HL, Seidman CE, Seidman JG, Ingwall JS
J Clin Invest 1998 Apr 15;101(8):1775-83. doi: 10.1172/JCI1940. PMID: 9541509Free PMC Article

Prognosis

Maron BJ, Maron MS, Semsarian C
J Am Coll Cardiol 2012 Aug 21;60(8):705-15. Epub 2012 Jul 11 doi: 10.1016/j.jacc.2012.02.068. [Epub ahead of print] PMID: 22796258
Yiu KH, Atsma DE, Delgado V, Ng AC, Witkowski TG, Ewe SH, Auger D, Holman ER, van Mil AM, Breuning MH, Tse HF, Bax JJ, Schalij MJ, Marsan NA
PLoS One 2012;7(5):e36115. Epub 2012 May 4 doi: 10.1371/journal.pone.0036115. PMID: 22574137Free PMC Article
Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H
Neuromuscul Disord 2012 Aug;22(8):747-54. Epub 2012 May 4 doi: 10.1016/j.nmd.2012.03.011. [Epub ahead of print] PMID: 22560514
Campbell SG, McCulloch AD
J R Soc Interface 2011 Nov 7;8(64):1550-61. Epub 2011 Aug 10 doi: 10.1098/rsif.2011.0184. [Epub ahead of print] PMID: 21831889Free 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 [Epub ahead of print] PMID: 19390744

Clinical prediction guides

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
Maron BJ, Maron MS, Semsarian C
J Am Coll Cardiol 2012 Aug 21;60(8):705-15. Epub 2012 Jul 11 doi: 10.1016/j.jacc.2012.02.068. [Epub ahead of print] PMID: 22796258
Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H
Neuromuscul Disord 2012 Aug;22(8):747-54. Epub 2012 May 4 doi: 10.1016/j.nmd.2012.03.011. [Epub ahead of print] PMID: 22560514
Campbell SG, McCulloch AD
J R Soc Interface 2011 Nov 7;8(64):1550-61. Epub 2011 Aug 10 doi: 10.1098/rsif.2011.0184. [Epub ahead of print] PMID: 21831889Free 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 [Epub ahead of print] PMID: 19390744

Recent systematic reviews

Garratt CJ, Elliott P, Behr E, Camm AJ, Cowan C, Cruickshank S, Grace A, Griffith MJ, Jolly A, Lambiase P, McKeown P, O'Callagan P, Stuart G, Watkins H; Heart Rhythm UK Familial Sudden Cardiac Death Syndromes Statement Development Group
Europace 2010 Aug;12(8):1156-75. doi: 10.1093/europace/euq261. PMID: 20663787

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