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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

Duras E, Sülü A, Kafalı HC, Ergül Y
Turk Kardiyol Dern Ars 2022 Oct;50(7):531-534. doi: 10.5543/tkda.2022.21286. PMID: 35976242
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
Knowlton KU
Ernst Schering Res Found Workshop 2006;(55):19-35. doi: 10.1007/3-540-30822-9_2. PMID: 16329655
Hare JM, Walford GD, Hruban RH, Hutchins GM, Deckers JW, Baughman KL
J Am Coll Cardiol 1992 Nov 15;20(6):1318-25. doi: 10.1016/0735-1097(92)90243-g. PMID: 1430681
Yokoyama A
Tohoku J Exp Med 1988 Apr;154(4):335-44. doi: 10.1620/tjem.154.335. PMID: 3263716

Diagnosis

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
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
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

Lee YG, Park JH, Jeon ES, Kim JH, Lim BK
J Microbiol Biotechnol 2016 Nov 28;26(11):2012-2018. doi: 10.4014/jmb.1605.05056. PMID: 27558433
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
Condat B, Asselah T, Zanditenas D, Estampes B, Cohen A, O'Toole D, Bonnet J, Ngo Y, Marcellin P, Blazquez M
Eur J Gastroenterol Hepatol 2006 Mar;18(3):287-9. doi: 10.1097/00042737-200603000-00010. PMID: 16462543
Sole MJ, Jeejeebhoy KN
Herz 2002 Mar;27(2):174-8. doi: 10.1007/s00059-002-2360-0. PMID: 12025462

Prognosis

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
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
Hare JM, Walford GD, Hruban RH, Hutchins GM, Deckers JW, Baughman KL
J Am Coll Cardiol 1992 Nov 15;20(6):1318-25. doi: 10.1016/0735-1097(92)90243-g. PMID: 1430681

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
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
Takase Y, Yamamoto K, Nogaki H, Fukusako T, Sasabe F, Morimatsu M
Jpn J Med 1990 Sep-Oct;29(5):555-9. doi: 10.2169/internalmedicine1962.29.555. PMID: 2089184

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