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Primary dilated cardiomyopathy(DCM)

MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Synonyms: Cardiomyopathy, congestive; DCM; Dilated Cardiomyopathy
SNOMED CT: Congestive cardiomyopathy (399020009); Dilated cardiomyopathy (399020009); CCM - Congestive cardiomyopathy (399020009); COCM - Congestive cardiomyopathy (399020009); DCM - Dilated cardiomyopathy (399020009); Congestive dilated cardiomyopathy (399020009); Primary dilated cardiomyopathy (195021004)
 
Genes (locations): ABCC9 (12p12.1); ACTC1 (15q14); ACTN2 (1q43); ANKRD1 (10q23.31); BAG3 (10q26.11); CSRP3 (11p15.1); DES (2q35); DSG2 (18q12.1); EYA4 (6q23.2); FKTN (9q31.2); LDB3 (10q23.2); LMNA (1q22); MYBPC3 (11p11.2); MYH6 (14q11.2); NEXN (1p31.1); PLN (6q22.31); PSEN1 (14q24.2); PSEN2 (1q42.13); RBM20 (10q25.2); SGCD (5q33.2-33.3); TAZ (Xq28); TCAP (17q12); TMPO (12q23.1); TNNT2 (1q32.1); TPM1 (15q22.2); TTN (2q31.2); VCL (10q22.2)
OMIM®: 212110
HPO: HP:0001644
Orphanet: ORPHA217604

Disease characteristics

Excerpted from the GeneReview: Dilated Cardiomyopathy Overview
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy to Identify or Confirm FDC  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Ray E Hershberger  |  Ana Morales   view full author information

Additional description

From GHR
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out 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. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure.It usually takes many years for symptoms of familial dilated cardiomyopathy to appear. 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.  https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Primary dilated cardiomyopathy in Orphanet.

Recent clinical studies

Etiology

Martignani C, Diemberger I, Nanni C, Biffi M, Ziacchi M, Boschi S, Corzani A, Fanti S, Sambuceti G, Boriani G
Eur J Clin Invest 2015 Aug;45(8):792-9. Epub 2015 Jul 3 doi: 10.1111/eci.12471. [Epub ahead of print] PMID: 26036750
Roberts SE, Pryce JW, Weber MA, Malone M, Ashworth MT, Sebire NJ
J Paediatr Child Health 2012 Aug;48(8):675-80. Epub 2012 Apr 19 doi: 10.1111/j.1440-1754.2012.02450.x. [Epub ahead of print] PMID: 22515160
Mahjoub S, Mehri S, Ghazouani E, Ouarda F, Boussada R, Zaroui A, Mechmeche R, Hammami M, Ben Arab S
Tissue Antigens 2010 Jun;75(6):679-83. Epub 2010 Jan 28 doi: 10.1111/j.1399-0039.2009.01432.x. [Epub ahead of print] PMID: 20136773
Carbucicchio C, Della Bella P, Fassini G, Trevisi N, Riva S, Giraldi F, Baratto F, Marenzi G, Sisillo E, Bartorelli A, Alamanni F
Herz 2009 Nov;34(7):545-52. doi: 10.1007/s00059-009-3289-3. PMID: 20091254
Iskandrian AS, Helfeld H, Lemlek J, Lee J, Iskandrian B, Heo J
Am Heart J 1992 Mar;123(3):768-73. PMID: 1539529

Diagnosis

Roberts SE, Pryce JW, Weber MA, Malone M, Ashworth MT, Sebire NJ
J Paediatr Child Health 2012 Aug;48(8):675-80. Epub 2012 Apr 19 doi: 10.1111/j.1440-1754.2012.02450.x. [Epub ahead of print] PMID: 22515160
Carbucicchio C, Della Bella P, Fassini G, Trevisi N, Riva S, Giraldi F, Baratto F, Marenzi G, Sisillo E, Bartorelli A, Alamanni F
Herz 2009 Nov;34(7):545-52. doi: 10.1007/s00059-009-3289-3. PMID: 20091254
Calore C, Cacciavillani L, Boffa GM, Silva C, Tiso E, Marra MP, Bacchiega E, Corbetti F, Iliceto S
J Cardiovasc Med (Hagerstown) 2007 Oct;8(10):821-9. doi: 10.2459/JCM.0b013e3280101e3c. PMID: 17885521
Radovanovic N, Petrovic LJ, Zorc M, Mihajilovic B, Kovac M, Nicin S, Popov M, Torbica V, Uscumlic-Kovacevic D
J Card Surg 2002 May-Jun;17(3):201-4. PMID: 12489903
Iskandrian AS, Helfeld H, Lemlek J, Lee J, Iskandrian B, Heo J
Am Heart J 1992 Mar;123(3):768-73. PMID: 1539529

Therapy

Carbucicchio C, Della Bella P, Fassini G, Trevisi N, Riva S, Giraldi F, Baratto F, Marenzi G, Sisillo E, Bartorelli A, Alamanni F
Herz 2009 Nov;34(7):545-52. doi: 10.1007/s00059-009-3289-3. PMID: 20091254
Abraham WT, Gilbert EM, Lowes BD, Minobe WA, Larrabee P, Roden RL, Dutcher D, Sederberg J, Lindenfeld JA, Wolfel EE, Shakar SF, Ferguson D, Volkman K, Linseman JV, Quaife RA, Robertson AD, Bristow MR
Mol Med 2002 Nov;8(11):750-60. PMID: 12520092Free PMC Article
Leszek P, Zieliński T, Janas J, Brodzki M, Klimkiewicz H, Korewicki J
J Card Fail 1996 Sep;2(3):163-74; discussion 175-6. PMID: 8891854
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. PMID: 2049889
Branzi A, Specchia S, Binetti G, Magelli C, Zannoli R, Magnani B
Eur Heart J 1983 Apr;4(4):252-8. PMID: 6684041

Prognosis

Janousek J, Gebauer RA, Abdul-Khaliq H, Turner M, Kornyei L, Grollmuss O, Rosenthal E, Villain E, Früh A, Paul T, Blom NA, Happonen JM, Bauersfeld U, Jacobsen JR, van den Heuvel F, Delhaas T, Papagiannis J, Trigo C; Working Group for Cardiac Dysrhythmias and Electrophysiology of the Association for European Paediatric Cardiology
Heart 2009 Jul;95(14):1165-71. Epub 2009 Mar 22 doi: 10.1136/hrt.2008.160465. [Epub ahead of print] PMID: 19307198Free PMC Article
Radovanović N, Mihajlović B, Selestianskỳ J, Torbica V, Mijatov M, Popov M, Jonjev ZS
Ann Thorac Surg 2002 Mar;73(3):751-5. PMID: 11899177
Pelliccia A, Culasso F, Di Paolo FM, Maron BJ
Ann Intern Med 1999 Jan 5;130(1):23-31. PMID: 9890846
Armstrong AT, Binkley PF, Baker PB, Myerowitz PD, Leier CV
J Am Coll Cardiol 1998 Sep;32(3):704-10. PMID: 9741515
Ishizaka N, Isshiki T, Saeki F, Ishizaka Y, Takanashi R, Yamaguchi T
Angiology 1995 Jul;46(7):619-24. PMID: 7618765

Clinical prediction guides

Carbucicchio C, Della Bella P, Fassini G, Trevisi N, Riva S, Giraldi F, Baratto F, Marenzi G, Sisillo E, Bartorelli A, Alamanni F
Herz 2009 Nov;34(7):545-52. doi: 10.1007/s00059-009-3289-3. PMID: 20091254
Janousek J, Gebauer RA, Abdul-Khaliq H, Turner M, Kornyei L, Grollmuss O, Rosenthal E, Villain E, Früh A, Paul T, Blom NA, Happonen JM, Bauersfeld U, Jacobsen JR, van den Heuvel F, Delhaas T, Papagiannis J, Trigo C; Working Group for Cardiac Dysrhythmias and Electrophysiology of the Association for European Paediatric Cardiology
Heart 2009 Jul;95(14):1165-71. Epub 2009 Mar 22 doi: 10.1136/hrt.2008.160465. [Epub ahead of print] PMID: 19307198Free PMC Article
Radovanović N, Mihajlović B, Selestianskỳ J, Torbica V, Mijatov M, Popov M, Jonjev ZS
Ann Thorac Surg 2002 Mar;73(3):751-5. PMID: 11899177
Armstrong AT, Binkley PF, Baker PB, Myerowitz PD, Leier CV
J Am Coll Cardiol 1998 Sep;32(3):704-10. PMID: 9741515
Leszek P, Zieliński T, Janas J, Brodzki M, Klimkiewicz H, Korewicki J
J Card Fail 1996 Sep;2(3):163-74; discussion 175-6. PMID: 8891854

Recent systematic reviews

Janousek J, Gebauer RA, Abdul-Khaliq H, Turner M, Kornyei L, Grollmuss O, Rosenthal E, Villain E, Früh A, Paul T, Blom NA, Happonen JM, Bauersfeld U, Jacobsen JR, van den Heuvel F, Delhaas T, Papagiannis J, Trigo C; Working Group for Cardiac Dysrhythmias and Electrophysiology of the Association for European Paediatric Cardiology
Heart 2009 Jul;95(14):1165-71. Epub 2009 Mar 22 doi: 10.1136/hrt.2008.160465. [Epub ahead of print] PMID: 19307198Free PMC Article

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