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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

Korover N, Etzion S, Cherniak A, Rabinski T, Levitas A, Etzion Y, Ofir R, Parvari R, Cohen S
Biol Res 2023 Jun 23;56(1):34. doi: 10.1186/s40659-023-00442-5. PMID: 37349842Free PMC Article
Bouin A, Vu MN, Al-Hakeem A, Tran GP, Nguyen JHC, Semler BL
J Virol 2023 Jan 31;97(1):e0142622. Epub 2022 Dec 8 doi: 10.1128/jvi.01426-22. PMID: 36475766Free PMC Article
Henry TD, Traverse JH, Hammon BL, East CA, Bruckner B, Remmers AE, Recker D, Bull DA, Patel AN
Circ Res 2014 Sep 26;115(8):730-7. Epub 2014 Aug 20 doi: 10.1161/CIRCRESAHA.115.304554. PMID: 25142002
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
Knowlton KU
Ernst Schering Res Found Workshop 2006;(55):19-35. doi: 10.1007/3-540-30822-9_2. PMID: 16329655

Diagnosis

Yu W, Gao H, Hu T, Tan X, Liu Y, Liu H, He S, Chen Z, Guo S, Huang J
Hereditas 2023 Oct 31;160(1):36. doi: 10.1186/s41065-023-00298-5. PMID: 37904201Free PMC Article
Atemin S, Todorov T, Maver A, Chamova T, Georgieva B, Tincheva S, Pacheva I, Ivanov I, Taneva A, Zlatareva D, Tournev I, Guergueltcheva V, Gospodinova M, Chochkova L, Peterlin B, Mitev V, Todorova A
Neuromuscul Disord 2021 Jul;31(7):633-641. Epub 2021 Apr 26 doi: 10.1016/j.nmd.2021.04.004. PMID: 34053846
Parvatiyar MS, Pinto JR, Liang J, Potter JD
J Biol Chem 2010 Sep 3;285(36):27785-97. Epub 2010 Jun 21 doi: 10.1074/jbc.M110.112326. PMID: 20566645Free PMC Article
Gursoy A, Erdogan MF, Kamel N
J Endocrinol Invest 2006 Apr;29(4):363-6. doi: 10.1007/BF03344110. PMID: 16699305
Xu J, Gong NL, Bodi I, Aronow BJ, Backx PH, Molkentin JD
J Biol Chem 2006 Apr 7;281(14):9152-62. Epub 2006 Feb 9 doi: 10.1074/jbc.M510217200. PMID: 16469744

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
Henry TD, Traverse JH, Hammon BL, East CA, Bruckner B, Remmers AE, Recker D, Bull DA, Patel AN
Circ Res 2014 Sep 26;115(8):730-7. Epub 2014 Aug 20 doi: 10.1161/CIRCRESAHA.115.304554. PMID: 25142002
Brooksbank R, Badenhorst D, Sliwa K, Norton G, Woodiwiss A
Cardiovasc J Afr 2008 Sep-Oct;19(5):254-8. PMID: 18997986Free PMC Article
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
Feldtmann R, Kümmel A, Chamling B, Strohbach A, Lehnert K, Gross S, Loerzer L, Riad A, Lindner D, Westermann D, Fielitz J, Dörr M, Felix SB
Immunology 2022 Sep;167(1):40-53. Epub 2022 Jun 29 doi: 10.1111/imm.13490. PMID: 35502635
Qiao Q, Zhao CM, Yang CX, Gu JN, Guo YH, Zhang M, Li RG, Qiu XB, Xu YJ, Yang YQ
Clin Chem Lab Med 2021 Apr 27;59(5):955-963. Epub 2020 Dec 3 doi: 10.1515/cclm-2020-1318. PMID: 33554560
Henry TD, Traverse JH, Hammon BL, East CA, Bruckner B, Remmers AE, Recker D, Bull DA, Patel AN
Circ Res 2014 Sep 26;115(8):730-7. Epub 2014 Aug 20 doi: 10.1161/CIRCRESAHA.115.304554. PMID: 25142002
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

Clinical prediction guides

Bouin A, Vu MN, Al-Hakeem A, Tran GP, Nguyen JHC, Semler BL
J Virol 2023 Jan 31;97(1):e0142622. Epub 2022 Dec 8 doi: 10.1128/jvi.01426-22. PMID: 36475766Free PMC Article
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
Feldtmann R, Kümmel A, Chamling B, Strohbach A, Lehnert K, Gross S, Loerzer L, Riad A, Lindner D, Westermann D, Fielitz J, Dörr M, Felix SB
Immunology 2022 Sep;167(1):40-53. Epub 2022 Jun 29 doi: 10.1111/imm.13490. PMID: 35502635
Henry TD, Traverse JH, Hammon BL, East CA, Bruckner B, Remmers AE, Recker D, Bull DA, Patel AN
Circ Res 2014 Sep 26;115(8):730-7. Epub 2014 Aug 20 doi: 10.1161/CIRCRESAHA.115.304554. PMID: 25142002
Xu J, Gong NL, Bodi I, Aronow BJ, Backx PH, Molkentin JD
J Biol Chem 2006 Apr 7;281(14):9152-62. Epub 2006 Feb 9 doi: 10.1074/jbc.M510217200. PMID: 16469744

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