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Dilated cardiomyopathy 1M(CMD1M)

MedGen UID:
334498
Concept ID:
C1843808
Disease or Syndrome
Synonyms: CMD1M; CSRP3-Related Dilated Cardiomyopathy
 
Gene (location): CSRP3 (11p15.1)
 
Monarch Initiative: MONDO:0011840
OMIM®: 607482

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. [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.
Endocardial fibroelastosis
MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
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.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Schmaltz AA, Apitz J, Hort W
Eur Heart J 1987 Feb;8(2):100-5. doi: 10.1093/oxfordjournals.eurheartj.a062236. PMID: 3569307

Recent clinical studies

Etiology

Tompkins BA, Rieger AC, Florea V, Banerjee MN, Natsumeda M, Nigh ED, Landin AM, Rodriguez GM, Hatzistergos KE, Schulman IH, Hare JM
J Am Heart Assoc 2018 Jul 12;7(14) doi: 10.1161/JAHA.117.008460. PMID: 30005555Free PMC Article
Smith JC, McDonnell B, Retallick C, McEniery C, Carey C, Davies JS, Barrett T, Cockcroft JR, Paisey R
Eur J Clin Invest 2007 Feb;37(2):99-105. doi: 10.1111/j.1365-2362.2007.01759.x. PMID: 17217374
Staudt A, Hummel A, Ruppert J, Dörr M, Trimpert C, Birkenmeier K, Krieg T, Staudt Y, Felix SB
Am Heart J 2006 Oct;152(4):712.e1-6. doi: 10.1016/j.ahj.2006.06.027. PMID: 16996843
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Schmaltz AA, Apitz J, Hort W
Eur Heart J 1987 Feb;8(2):100-5. doi: 10.1093/oxfordjournals.eurheartj.a062236. PMID: 3569307

Diagnosis

Hassan M, Wagdy K, Kharabish A, Selwanos PP, Nabil A, Elguindy A, ElFaramawy A, Elmahdy MF, Mahmoud H, Yacoub MH
Circ Heart Fail 2017 Mar;10(3) doi: 10.1161/CIRCHEARTFAILURE.116.003592. PMID: 28283502
Iervasi G, Clerico A, Berti S, Pilo A, Biagini A, Bianchi R, Donato L
Circulation 1995 Apr 1;91(7):2018-27. doi: 10.1161/01.cir.91.7.2018. PMID: 7895361
Schmaltz AA, Apitz J, Hort W
Eur Heart J 1987 Feb;8(2):100-5. doi: 10.1093/oxfordjournals.eurheartj.a062236. PMID: 3569307

Therapy

Tompkins BA, Rieger AC, Florea V, Banerjee MN, Natsumeda M, Nigh ED, Landin AM, Rodriguez GM, Hatzistergos KE, Schulman IH, Hare JM
J Am Heart Assoc 2018 Jul 12;7(14) doi: 10.1161/JAHA.117.008460. PMID: 30005555Free PMC Article
Birks EJ, George RS, Hedger M, Bahrami T, Wilton P, Bowles CT, Webb C, Bougard R, Amrani M, Yacoub MH, Dreyfus G, Khaghani A
Circulation 2011 Feb 1;123(4):381-90. Epub 2011 Jan 17 doi: 10.1161/CIRCULATIONAHA.109.933960. PMID: 21242487
Staudt A, Hummel A, Ruppert J, Dörr M, Trimpert C, Birkenmeier K, Krieg T, Staudt Y, Felix SB
Am Heart J 2006 Oct;152(4):712.e1-6. doi: 10.1016/j.ahj.2006.06.027. PMID: 16996843
Dörffel WV, Wallukat G, Baumann G, Felix SB
Ther Apher 2000 Jun;4(3):235-8. doi: 10.1046/j.1526-0968.2000.00177.x. PMID: 10910026
Rauch B, Zimmermann R, Kapp M, Haass M, Von Molitor S, Smolarz A, Neumann FJ, Kübler W, Dietz R, Tillmanns H
Clin Cardiol 1991 May;14(5):386-95. doi: 10.1002/clc.4960140506. PMID: 2049889

Prognosis

Tompkins BA, Rieger AC, Florea V, Banerjee MN, Natsumeda M, Nigh ED, Landin AM, Rodriguez GM, Hatzistergos KE, Schulman IH, Hare JM
J Am Heart Assoc 2018 Jul 12;7(14) doi: 10.1161/JAHA.117.008460. PMID: 30005555Free PMC Article
Staudt A, Hummel A, Ruppert J, Dörr M, Trimpert C, Birkenmeier K, Krieg T, Staudt Y, Felix SB
Am Heart J 2006 Oct;152(4):712.e1-6. doi: 10.1016/j.ahj.2006.06.027. PMID: 16996843
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Dörffel WV, Wallukat G, Baumann G, Felix SB
Ther Apher 2000 Jun;4(3):235-8. doi: 10.1046/j.1526-0968.2000.00177.x. PMID: 10910026
Schmaltz AA, Apitz J, Hort W
Eur Heart J 1987 Feb;8(2):100-5. doi: 10.1093/oxfordjournals.eurheartj.a062236. PMID: 3569307

Clinical prediction guides

Patrianakos AP, Parthenakis FI, Karakitsos D, Nyktari E, Vardas PE
Eur J Echocardiogr 2009 May;10(3):425-32. Epub 2008 Nov 28 doi: 10.1093/ejechocard/jen304. PMID: 19042942
Smith JC, McDonnell B, Retallick C, McEniery C, Carey C, Davies JS, Barrett T, Cockcroft JR, Paisey R
Eur J Clin Invest 2007 Feb;37(2):99-105. doi: 10.1111/j.1365-2362.2007.01759.x. PMID: 17217374
Dörffel WV, Wallukat G, Dörffel Y, Felix SB, Baumann G
Int J Cardiol 2004 Dec;97(3):529-34. doi: 10.1016/j.ijcard.2004.03.001. PMID: 15561344
Ladenson PW, Sherman SI, Baughman KL, Ray PE, Feldman AM
Proc Natl Acad Sci U S A 1992 Jun 15;89(12):5251-5. doi: 10.1073/pnas.89.12.5251. PMID: 1376915Free PMC Article
Schmaltz AA, Apitz J, Hort W
Eur Heart J 1987 Feb;8(2):100-5. doi: 10.1093/oxfordjournals.eurheartj.a062236. PMID: 3569307

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