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Familial hypertrophic cardiomyopathy 16(CMH16)

MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
Synonyms: Cardiomyopathy, familial hypertrophic, 16; CMH16
Modes of inheritance:
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: MYOZ2
Cytogenetic location: 4q26
OMIM®: 613838

Clinical features

Left ventricular hypertrophy
MedGen UID:
336835
Concept ID:
C1845018
Finding
Atrial fibrillation
MedGen UID:
368090
Concept ID:
C1963067
Finding
Ventricular tachycardia
MedGen UID:
776567
Concept ID:
C2108113
Finding
Asymmetric septal hypertrophy
MedGen UID:
504902
Concept ID:
CN001519
Finding
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Left bundle branch block
MedGen UID:
506610
Concept ID:
CN167441
Finding
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C
Am J Cardiol 2014 Sep 1;114(5):769-76. Epub 2014 Jun 19 doi: 10.1016/j.amjcard.2014.05.065. [Epub ahead of print] PMID: 25037680
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
MacLeod R, Beach A, Henriques S, Knopp J, Nelson K, Kerzin-Storrar L
Eur J Hum Genet 2014 Mar;22(3):396-401. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.143. [Epub ahead of print] PMID: 23860040Free PMC Article
Sen-Chowdhry S, Tomé Esteban MT, McKenna WJ
Herzschrittmacherther Elektrophysiol 2012 Sep;23(3):174-85. Epub 2012 Sep 25 doi: 10.1007/s00399-012-0227-5. [Epub ahead of print] PMID: 23008086
Rani DS, Nallari P, Priyamvada S, Narasimhan C, Singh L, Thangaraj K
BMC Med Genet 2012 Aug 10;13:69. doi: 10.1186/1471-2350-13-69. [Epub ahead of print] PMID: 22876777Free PMC Article

Diagnosis

Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C
Am J Cardiol 2014 Sep 1;114(5):769-76. Epub 2014 Jun 19 doi: 10.1016/j.amjcard.2014.05.065. [Epub ahead of print] PMID: 25037680
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
MacLeod R, Beach A, Henriques S, Knopp J, Nelson K, Kerzin-Storrar L
Eur J Hum Genet 2014 Mar;22(3):396-401. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.143. [Epub ahead of print] PMID: 23860040Free PMC Article
Sen-Chowdhry S, Tomé Esteban MT, McKenna WJ
Herzschrittmacherther Elektrophysiol 2012 Sep;23(3):174-85. Epub 2012 Sep 25 doi: 10.1007/s00399-012-0227-5. [Epub ahead of print] PMID: 23008086
Rani DS, Nallari P, Priyamvada S, Narasimhan C, Singh L, Thangaraj K
BMC Med Genet 2012 Aug 10;13:69. doi: 10.1186/1471-2350-13-69. [Epub ahead of print] PMID: 22876777Free PMC Article

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. [Epub ahead of print] PMID: 24837268
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. [Epub ahead of print] PMID: 12860897Free PMC Article
Kyriakidis M, Triposkiadis F, Anastasakis A, Theopistou A, Tocta R, Barbetseas J, Gialafos J
Chest 1998 Oct;114(4):1091-6. PMID: 9792582
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
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE
N Engl J Med 1998 Apr 30;338(18):1248-57. doi: 10.1056/NEJM199804303381802. PMID: 9562578

Prognosis

Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C
Am J Cardiol 2014 Sep 1;114(5):769-76. Epub 2014 Jun 19 doi: 10.1016/j.amjcard.2014.05.065. [Epub ahead of print] PMID: 25037680
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
MacLeod R, Beach A, Henriques S, Knopp J, Nelson K, Kerzin-Storrar L
Eur J Hum Genet 2014 Mar;22(3):396-401. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.143. [Epub ahead of print] PMID: 23860040Free PMC Article
Sen-Chowdhry S, Tomé Esteban MT, McKenna WJ
Herzschrittmacherther Elektrophysiol 2012 Sep;23(3):174-85. Epub 2012 Sep 25 doi: 10.1007/s00399-012-0227-5. [Epub ahead of print] PMID: 23008086
Rani DS, Nallari P, Priyamvada S, Narasimhan C, Singh L, Thangaraj K
BMC Med Genet 2012 Aug 10;13:69. doi: 10.1186/1471-2350-13-69. [Epub ahead of print] PMID: 22876777Free PMC Article

Clinical prediction guides

MacLeod R, Beach A, Henriques S, Knopp J, Nelson K, Kerzin-Storrar L
Eur J Hum Genet 2014 Mar;22(3):396-401. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.143. [Epub ahead of print] PMID: 23860040Free PMC Article
Liang P, Lan F, Lee AS, Gong T, Sanchez-Freire V, Wang Y, Diecke S, Sallam K, Knowles JW, Wang PJ, Nguyen PK, Bers DM, Robbins RC, Wu JC
Circulation 2013 Apr 23;127(16):1677-91. Epub 2013 Mar 21 doi: 10.1161/CIRCULATIONAHA.113.001883. [Epub ahead of print] PMID: 23519760Free PMC Article
Rani DS, Nallari P, Priyamvada S, Narasimhan C, Singh L, Thangaraj K
BMC Med Genet 2012 Aug 10;13:69. doi: 10.1186/1471-2350-13-69. [Epub ahead of print] PMID: 22876777Free 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
Tsoutsman T, Kelly M, Ng DC, Tan JE, Tu E, Lam L, Bogoyevitch MA, Seidman CE, Seidman JG, Semsarian C
Circulation 2008 Apr 8;117(14):1820-31. Epub 2008 Mar 24 doi: 10.1161/CIRCULATIONAHA.107.755777. [Epub ahead of print] PMID: 18362229

Recent systematic reviews

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. [Epub ahead of print] PMID: 17188933

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