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Dilated cardiomyopathy 1B(CMD1B)

MedGen UID:
1814491
Concept ID:
C5700078
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL DILATED, 1; CMD1B
 
Monarch Initiative: MONDO:0010951
OMIM®: 600884

Definition

A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. [from MONDO]

Clinical features

From HPO
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
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.
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Zimmermann O, Kochs M, Zwaka TP, Kaya Z, Lepper PM, Bienek-Ziolkowski M, Hoher M, Hombach V, Torzewski J
Int J Cardiol 2005 Sep 15;104(1):92-100. doi: 10.1016/j.ijcard.2005.02.052. PMID: 16137516

Recent clinical studies

Etiology

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
Groh WJ
Heart Rhythm 2012 Nov;9(11):1890-5. Epub 2012 Jun 30 doi: 10.1016/j.hrthm.2012.06.038. PMID: 22760083
Biagi DG, Mill JG, Mansur AJ, Krieger JE, Pereira AC
J Negat Results Biomed 2012 Jan 11;11:4. doi: 10.1186/1477-5751-11-4. PMID: 22236651Free PMC Article
MacLeod HM, Culley MR, Huber JM, McNally EM
BMC Med Genet 2003 Jul 10;4:4. doi: 10.1186/1471-2350-4-4. PMID: 12854972Free PMC Article
Cox GF, Kunkel LM
Curr Opin Cardiol 1997 May;12(3):329-43. PMID: 9243091

Diagnosis

Butts RJ, Toombs L, Kirklin JK, Schumacher KR, Conway J, West SC, Auerbach S, Bansal N, Zhao H, Cantor RS, Nandi D, Peng DM
Circulation 2024 Jul 30;150(5):362-373. Epub 2024 Jun 28 doi: 10.1161/CIRCULATIONAHA.123.068189. PMID: 38939965
Fidalgo A, Fernandez-Friera L, Solis J
Heart 2018 Dec;104(24):2025-2043. Epub 2018 Sep 4 doi: 10.1136/heartjnl-2018-313347. PMID: 30181199
Molina KM, Shrader P, Colan SD, Mital S, Margossian R, Sleeper LA, Shirali G, Barker P, Canter CE, Altmann K, Radojewski E, Tierney ES, Rychik J, Tani LY; Pediatric Heart Network Investigators
Circ Heart Fail 2013 Nov;6(6):1214-22. Epub 2013 Oct 16 doi: 10.1161/CIRCHEARTFAILURE.113.000125. PMID: 24132734Free PMC Article
Decostre V, Ben Yaou R, Bonne G
Acta Myol 2005 Oct;24(2):104-9. PMID: 16550926
Cox GF, Kunkel LM
Curr Opin Cardiol 1997 May;12(3):329-43. PMID: 9243091

Therapy

Sztechman D, Żera T, Czarzasta K, Wojciechowska M, Szczepańska-Sadowska E, Cudnoch-Jędrzejewska A
Physiol Meas 2020 Nov 9;41(10):10TR02. doi: 10.1088/1361-6579/abb3a3. PMID: 33164918
Molina KM, Shrader P, Colan SD, Mital S, Margossian R, Sleeper LA, Shirali G, Barker P, Canter CE, Altmann K, Radojewski E, Tierney ES, Rychik J, Tani LY; Pediatric Heart Network Investigators
Circ Heart Fail 2013 Nov;6(6):1214-22. Epub 2013 Oct 16 doi: 10.1161/CIRCHEARTFAILURE.113.000125. PMID: 24132734Free PMC Article
Zimmermann O, Rodewald C, Radermacher M, Vetter M, Wiehe JM, Bienek-Ziolkowski M, Hombach V, Torzewski J
J Card Fail 2010 Apr;16(4):348-56. Epub 2010 Feb 7 doi: 10.1016/j.cardfail.2009.12.016. PMID: 20350703
Zimmermann O, Kochs M, Zwaka TP, Kaya Z, Lepper PM, Bienek-Ziolkowski M, Hoher M, Hombach V, Torzewski J
Int J Cardiol 2005 Sep 15;104(1):92-100. doi: 10.1016/j.ijcard.2005.02.052. PMID: 16137516
Richartz BM, Werner GS, Ferrari M, Figulla HR
Am J Cardiol 2002 Aug 15;90(4):390-4. doi: 10.1016/s0002-9149(02)02495-5. PMID: 12161228

Prognosis

Huang QF, Trenson S, Zhang ZY, Yang WY, Van Aelst L, Nkuipou-Kenfack E, Wei FF, Mujaj B, Thijs L, Ciarka A, Zoidakis J, Droogné W, Vlahou A, Janssens S, Vanhaecke J, Van Cleemput J, Staessen JA
PLoS One 2017;12(9):e0184443. Epub 2017 Sep 7 doi: 10.1371/journal.pone.0184443. PMID: 28880921Free PMC Article
Molina KM, Shrader P, Colan SD, Mital S, Margossian R, Sleeper LA, Shirali G, Barker P, Canter CE, Altmann K, Radojewski E, Tierney ES, Rychik J, Tani LY; Pediatric Heart Network Investigators
Circ Heart Fail 2013 Nov;6(6):1214-22. Epub 2013 Oct 16 doi: 10.1161/CIRCHEARTFAILURE.113.000125. PMID: 24132734Free PMC Article
Franz M, Berndt A, Neri D, Galler K, Grün K, Porrmann C, Reinbothe F, Mall G, Schlattmann P, Renner A, Figulla HR, Jung C, Küthe F
Int J Cardiol 2013 Oct 15;168(6):5344-51. Epub 2013 Aug 15 doi: 10.1016/j.ijcard.2013.08.005. PMID: 23998545
Zimmermann O, Rodewald C, Radermacher M, Vetter M, Wiehe JM, Bienek-Ziolkowski M, Hombach V, Torzewski J
J Card Fail 2010 Apr;16(4):348-56. Epub 2010 Feb 7 doi: 10.1016/j.cardfail.2009.12.016. PMID: 20350703
Zimmermann O, Kochs M, Zwaka TP, Kaya Z, Lepper PM, Bienek-Ziolkowski M, Hoher M, Hombach V, Torzewski J
Int J Cardiol 2005 Sep 15;104(1):92-100. doi: 10.1016/j.ijcard.2005.02.052. PMID: 16137516

Clinical prediction guides

Molina KM, Shrader P, Colan SD, Mital S, Margossian R, Sleeper LA, Shirali G, Barker P, Canter CE, Altmann K, Radojewski E, Tierney ES, Rychik J, Tani LY; Pediatric Heart Network Investigators
Circ Heart Fail 2013 Nov;6(6):1214-22. Epub 2013 Oct 16 doi: 10.1161/CIRCHEARTFAILURE.113.000125. PMID: 24132734Free PMC Article
Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK
Clin Genet 2008 Aug;74(2):127-33. Epub 2008 Jun 28 doi: 10.1111/j.1399-0004.2008.01045.x. PMID: 18564364
Wehnert MS, Bonne G
Semin Pediatr Neurol 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. PMID: 12138994
Mounkes LC, Burke B, Stewart CL
Trends Cardiovasc Med 2001 Oct;11(7):280-5. doi: 10.1016/s1050-1738(01)00126-8. PMID: 11709282
Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE
J Card Fail 2001 Sep;7(3):249-56. doi: 10.1054/jcaf.2001.26339. PMID: 11561226

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