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Dilated cardiomyopathy 2A(CMD2A)

MedGen UID:
437214
Concept ID:
C2678474
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE; CMD2A; TNNI3-Related Dilated Cardiomyopathy
 
Gene (location): TNNI3 (19q13.42)
 
Monarch Initiative: MONDO:0012746
OMIM®: 611880

Definition

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. [from MONDO]

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Myofiber disarray
MedGen UID:
1615672
Concept ID:
C3671015
Finding
A nonparallel arrangement of cardiac myocytes.
Increased left ventricular end-diastolic volume
MedGen UID:
1660169
Concept ID:
C4748648
Finding
Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).
Cardiomyocyte hypertrophy
MedGen UID:
909741
Concept ID:
C4227331
Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M
Genes (Basel) 2019 Oct 29;10(11) doi: 10.3390/genes10110856. PMID: 31671740Free PMC Article
Caldwell J, Moreton N, Khan N, Kerzin-Storrar L, Metcalfe K, Newman W, Garratt CJ
Heart 2012 Apr;98(8):631-6. doi: 10.1136/heartjnl-2011-300924. PMID: 22505462

Recent clinical studies

Etiology

Widyastuti HP, Norden-Krichmar TM, Grosberg A, Zaragoza MV
BMC Med Genet 2020 Jul 22;21(1):152. doi: 10.1186/s12881-020-01088-w. PMID: 32698886Free PMC Article
Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC
Orphanet J Rare Dis 2020 Jun 23;15(1):160. doi: 10.1186/s13023-020-01445-1. PMID: 32576226Free PMC Article
Boivin-Jahns V, Schlipp A, Hartmann S, Panjwani P, Klingel K, Lohse MJ, Ertl G, Jahns R
Herz 2012 Dec;37(8):843-8. doi: 10.1007/s00059-012-3699-5. PMID: 23183584
Hoskote A, Carter C, Rees P, Elliott M, Burch M, Brown K
J Thorac Cardiovasc Surg 2010 Jan;139(1):146-53. Epub 2009 Nov 11 doi: 10.1016/j.jtcvs.2009.08.020. PMID: 19910002
Schall RR, Petrucci RJ, Brozena SC, Cavarocchi NC, Jessup M
J Am Coll Cardiol 1989 Dec;14(7):1666-72. doi: 10.1016/0735-1097(89)90013-2. PMID: 2584554

Diagnosis

Widyastuti HP, Norden-Krichmar TM, Grosberg A, Zaragoza MV
BMC Med Genet 2020 Jul 22;21(1):152. doi: 10.1186/s12881-020-01088-w. PMID: 32698886Free PMC Article
Wölfel A, Sättele M, Zechmeister C, Nikolaev VO, Lohse MJ, Boege F, Jahns R, Boivin-Jahns V
ESC Heart Fail 2020 Aug;7(4):1830-1841. Epub 2020 May 21 doi: 10.1002/ehf2.12747. PMID: 32436653Free PMC Article
Zaragoza MV, Fung L, Jensen E, Oh F, Cung K, McCarthy LA, Tran CK, Hoang V, Hakim SA, Grosberg A
PLoS One 2016;11(5):e0155421. Epub 2016 May 16 doi: 10.1371/journal.pone.0155421. PMID: 27182706Free PMC Article
Wijnker PJ, Boknik P, Gergs U, Müller FU, Neumann J, dos Remedios C, Schmitz W, Sindermann JR, Stienen GJ, van der Velden J, Kirchhefer U
J Muscle Res Cell Motil 2011 Nov;32(3):221-33. Epub 2011 Sep 30 doi: 10.1007/s10974-011-9261-x. PMID: 21959857Free PMC Article
Zhou YL, Li XL, Zhang HF, Yao WM, Tong M, Xu Q, Cao KJ, Huang J
Chin Med J (Engl) 2008 Feb 20;121(4):316-20. PMID: 18304463

Therapy

Liu D, Wang M, Murthy V, McNamara DM, Nguyen TTL, Philips TJ, Vyas H, Gao H, Sahni J, Starling RC, Cooper LT, Skime MK, Batzler A, Jenkins GD, Barlera S, Pileggi S, Mestroni L, Merlo M, Sinagra G, Pinet F, Krejčí J, Chaloupka A, Miller JD, de Groote P, Tschumperlin DJ, Weinshilboum RM, Pereira NL
Circ Res 2023 Oct 27;133(10):810-825. Epub 2023 Oct 6 doi: 10.1161/CIRCRESAHA.123.323200. PMID: 37800334Free PMC Article
Kloeters C, Dushe S, Dohmen PM, Meyer H, Krug LD, Hermann KG, Hamm B, Konertz WF, Lembcke A
J Comput Assist Tomogr 2008 Jan-Feb;32(1):78-85. doi: 10.1097/RCT.0b013e3180559233. PMID: 18303293
Pagani O, Sessa C, Nolè F, Munzone E, Crivellari D, Lombardi D, Thürlimann B, Hess D, Graffeo R, Ruggeri M, Longhi S, Goldhirsch A
Ann Oncol 2005 Oct;16(10):1609-17. Epub 2005 Jun 30 doi: 10.1093/annonc/mdi308. PMID: 15994176
Sole MJ, Jeejeebhoy KN
Herz 2002 Mar;27(2):174-8. doi: 10.1007/s00059-002-2360-0. PMID: 12025462
Killip T
Am J Cardiol 1985 Jul 10;56(2):2A-6A. doi: 10.1016/0002-9149(85)91198-1. PMID: 4014050

Prognosis

Liu D, Wang M, Murthy V, McNamara DM, Nguyen TTL, Philips TJ, Vyas H, Gao H, Sahni J, Starling RC, Cooper LT, Skime MK, Batzler A, Jenkins GD, Barlera S, Pileggi S, Mestroni L, Merlo M, Sinagra G, Pinet F, Krejčí J, Chaloupka A, Miller JD, de Groote P, Tschumperlin DJ, Weinshilboum RM, Pereira NL
Circ Res 2023 Oct 27;133(10):810-825. Epub 2023 Oct 6 doi: 10.1161/CIRCRESAHA.123.323200. PMID: 37800334Free PMC Article
Boivin-Jahns V, Schlipp A, Hartmann S, Panjwani P, Klingel K, Lohse MJ, Ertl G, Jahns R
Herz 2012 Dec;37(8):843-8. doi: 10.1007/s00059-012-3699-5. PMID: 23183584
Zheng JY, Han L, Ding WH, Jin M, Zhang GZ, Xiao YY, Luo Y, Cheng P, Meng X, Zhao QM
Chin Med J (Engl) 2010 Oct;123(20):2888-94. PMID: 21034602
Hoskote A, Carter C, Rees P, Elliott M, Burch M, Brown K
J Thorac Cardiovasc Surg 2010 Jan;139(1):146-53. Epub 2009 Nov 11 doi: 10.1016/j.jtcvs.2009.08.020. PMID: 19910002
Kloeters C, Dushe S, Dohmen PM, Meyer H, Krug LD, Hermann KG, Hamm B, Konertz WF, Lembcke A
J Comput Assist Tomogr 2008 Jan-Feb;32(1):78-85. doi: 10.1097/RCT.0b013e3180559233. PMID: 18303293

Clinical prediction guides

Mondragón-Herrera JA, Serrano-Hernández Y, Valero-Elizondo G, Mansilla-Olivares A, Manjarrez-Gutiérrez G
Cir Cir 2022;90(6):781-788. doi: 10.24875/CIRU.21000506. PMID: 36472833
Hoskote A, Carter C, Rees P, Elliott M, Burch M, Brown K
J Thorac Cardiovasc Surg 2010 Jan;139(1):146-53. Epub 2009 Nov 11 doi: 10.1016/j.jtcvs.2009.08.020. PMID: 19910002
Zhou YL, Li XL, Zhang HF, Yao WM, Tong M, Xu Q, Cao KJ, Huang J
Chin Med J (Engl) 2008 Feb 20;121(4):316-20. PMID: 18304463
Kloeters C, Dushe S, Dohmen PM, Meyer H, Krug LD, Hermann KG, Hamm B, Konertz WF, Lembcke A
J Comput Assist Tomogr 2008 Jan-Feb;32(1):78-85. doi: 10.1097/RCT.0b013e3180559233. PMID: 18303293
Schall RR, Petrucci RJ, Brozena SC, Cavarocchi NC, Jessup M
J Am Coll Cardiol 1989 Dec;14(7):1666-72. doi: 10.1016/0735-1097(89)90013-2. PMID: 2584554

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