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Familial hypertrophic cardiomyopathy 17(CMH17)

MedGen UID:
462614
Concept ID:
C3151264
Disease or Syndrome
Synonyms: CMH17
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): JPH2 (20q13.12)
OMIM®: 613873

Clinical features

Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
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 hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, Ackerman MJ, Nishimura RA, Tajik AJ, Ommen SR
Am J Cardiol 2013 Jun 15;111(12):1784-91. Epub 2013 Mar 27 doi: 10.1016/j.amjcard.2013.02.040. PMID: 23540548
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 PMID: 19838003
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

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL
Genet Med 2015 Nov;17(11):880-8. Epub 2015 Jan 22 doi: 10.1038/gim.2014.205. PMID: 25611685
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
Noureldin RA, Liu S, Nacif MS, Judge DP, Halushka MK, Abraham TP, Ho C, Bluemke DA
J Cardiovasc Magn Reson 2012 Feb 20;14:17. doi: 10.1186/1532-429X-14-17. PMID: 22348519Free PMC Article
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 PMID: 19838003
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

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. PMID: 24837268
Núñez L, Gimeno-Blanes JR, Rodríguez-García MI, Monserrat L, Zorio E, Coats C, McGregor CG, Hernandez del Rincón JP, Castro-Beiras A, Hermida-Prieto M
Circ J 2013;77(9):2358-65. Epub 2013 Jun 19 PMID: 23782526
Ostman-Smith I, Wettrell G, Keeton B, Holmgren D, Ergander U, Gould S, Bowker C, Verdicchio M
Eur Heart J 2008 May;29(9):1160-7. Epub 2008 Apr 2 doi: 10.1093/eurheartj/ehn122. PMID: 18385119
Uwaifo GI, Fallon EM, Calis KA, Drinkard B, McDuffie JR, Yanovski JA
South Med J 2003 Jun;96(6):626-31. doi: 10.1097/01.SMJ.0000053254.23595.14. PMID: 12938797
Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ
Circulation 2003 Jul 29;108(4):395-8. Epub 2003 Jul 14 doi: 10.1161/01.CIR.0000084500.72232.8D. PMID: 12860897Free PMC Article

Prognosis

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
Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, Ackerman MJ, Nishimura RA, Tajik AJ, Ommen SR
Am J Cardiol 2013 Jun 15;111(12):1784-91. Epub 2013 Mar 27 doi: 10.1016/j.amjcard.2013.02.040. PMID: 23540548
Noureldin RA, Liu S, Nacif MS, Judge DP, Halushka MK, Abraham TP, Ho C, Bluemke DA
J Cardiovasc Magn Reson 2012 Feb 20;14:17. doi: 10.1186/1532-429X-14-17. PMID: 22348519Free PMC Article
Kubo T, Kitaoka H, Okawa M, Hirota T, Hoshikawa E, Hayato K, Yamasaki N, Matsumura Y, Yabe T, Nishinaga M, Takata J, Doi YL
Circ J 2009 Dec;73(12):2330-6. Epub 2009 Oct 17 PMID: 19838003
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

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
Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, Ackerman MJ, Nishimura RA, Tajik AJ, Ommen SR
Am J Cardiol 2013 Jun 15;111(12):1784-91. Epub 2013 Mar 27 doi: 10.1016/j.amjcard.2013.02.040. PMID: 23540548
Noureldin RA, Liu S, Nacif MS, Judge DP, Halushka MK, Abraham TP, Ho C, Bluemke DA
J Cardiovasc Magn Reson 2012 Feb 20;14:17. doi: 10.1186/1532-429X-14-17. PMID: 22348519Free 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
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

Recent systematic reviews

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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