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Dilated cardiomyopathy 1H(CMD1H)

MedGen UID:
348980
Concept ID:
C1858591
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT; CMD1H
 
Monarch Initiative: MONDO:0011425
OMIM®: 604288

Definition

A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. [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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Pinto-Salinas M, Morón-Castro J, Chavarri-Velarde F, Soplopuco-Palacios F, Palma-Ortecho L, Lescano-Alva M
J Card Surg 2022 Jun;37(6):1550-1558. Epub 2022 Mar 19 doi: 10.1111/jocs.16429. PMID: 35306685
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation
Circ Genom Precis Med 2020 Apr;13(2):e002480. Epub 2020 Mar 11 doi: 10.1161/CIRCGEN.119.002480. PMID: 32160020Free PMC Article
Deidda M, Piras C, Cadeddu Dessalvi C, Congia D, Locci E, Ascedu F, De Candia G, Cadeddu M, Lai G, Pirisi R, Atzori L, Mercuro G
J Transl Med 2017 May 23;15(1):112. doi: 10.1186/s12967-017-1215-7. PMID: 28535803Free PMC Article
Padeletti L, Modesti PA, Cartei S, Checchi L, Ricciardi G, Pieragnolia P, Sacchi S, Padeletti M, Alterini B, Pantaleo P, Hu X, Tenori L, Luchinat C
J Cardiovasc Med (Hagerstown) 2014 Apr;15(4):295-300. doi: 10.2459/JCM.0000000000000028. PMID: 24699011
Neiman J, Haapaniemi HM, Hillbom M
Eur J Neurol 2000 Nov;7(6):595-606. doi: 10.1046/j.1468-1331.2000.00045.x. PMID: 11136345

Diagnosis

Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation
Circ Genom Precis Med 2020 Apr;13(2):e002480. Epub 2020 Mar 11 doi: 10.1161/CIRCGEN.119.002480. PMID: 32160020Free PMC Article
Sardanelli F, Quarenghi M
Radiol Med 2006 Dec;111(8):1025-34. Epub 2006 Dec 20 doi: 10.1007/s11547-006-0102-8. PMID: 17171530
Neubauer S
Herz 2000 Jun;25(4):452-60. doi: 10.1007/s000590050037. PMID: 10948781
Hardy CJ, Weiss RG, Bottomley PA, Gerstenblith G
Am Heart J 1991 Sep;122(3 Pt 1):795-801. doi: 10.1016/0002-8703(91)90527-o. PMID: 1877457
Weiner MW, Hetherington H, Hubesch B, Karczmar G, Massie B, Maudsley A, Meyerhoff DJ, Sappey-Marinier D, Schaefer S, Twieg DB
NMR Biomed 1989 Dec;2(5-6):290-7. doi: 10.1002/nbm.1940020519. PMID: 2701809

Therapy

Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation
Circ Genom Precis Med 2020 Apr;13(2):e002480. Epub 2020 Mar 11 doi: 10.1161/CIRCGEN.119.002480. PMID: 32160020Free PMC Article
Dougherty CM, Glenny RW, Burr RL, Flo GL, Kudenchuk PJ
Circulation 2015 May 26;131(21):1835-42. Epub 2015 Mar 19 doi: 10.1161/CIRCULATIONAHA.114.014444. PMID: 25792557Free PMC Article
Das B, Shoemaker L, Recto M, Austin E, Dowling R
J Heart Lung Transplant 2008 Feb;27(2):242-4. doi: 10.1016/j.healun.2007.11.569. PMID: 18267235
Kitamura S, Nakatani T, Yagihara T, Sasako Y, Kobayashi J, Bando K, Minatoya K, Hanatani A, Komamura K, Imakita M, Yutani C, Kuro M, Kimura K, Nonogi H, Miyatake K
Jpn Circ J 2000 May;64(5):333-9. doi: 10.1253/jcj.64.333. PMID: 10834447
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

Pinto-Salinas M, Morón-Castro J, Chavarri-Velarde F, Soplopuco-Palacios F, Palma-Ortecho L, Lescano-Alva M
J Card Surg 2022 Jun;37(6):1550-1558. Epub 2022 Mar 19 doi: 10.1111/jocs.16429. PMID: 35306685
Padeletti L, Modesti PA, Cartei S, Checchi L, Ricciardi G, Pieragnolia P, Sacchi S, Padeletti M, Alterini B, Pantaleo P, Hu X, Tenori L, Luchinat C
J Cardiovasc Med (Hagerstown) 2014 Apr;15(4):295-300. doi: 10.2459/JCM.0000000000000028. PMID: 24699011
Das B, Shoemaker L, Recto M, Austin E, Dowling R
J Heart Lung Transplant 2008 Feb;27(2):242-4. doi: 10.1016/j.healun.2007.11.569. PMID: 18267235
Walecki J, Michalak MJ, Michalak E, Bilinska ZT, Ruzyllo W
Acad Radiol 2003 Oct;10(10):1187-92. doi: 10.1016/s1076-6332(03)00104-1. PMID: 14587640
Neubauer S
Herz 2000 Jun;25(4):452-60. doi: 10.1007/s000590050037. PMID: 10948781

Clinical prediction guides

Refaat MM, Hotait M, London B
Curr Cardiol Rep 2015 Jul;17(7):606. doi: 10.1007/s11886-015-0606-8. PMID: 26026997
Padeletti L, Modesti PA, Cartei S, Checchi L, Ricciardi G, Pieragnolia P, Sacchi S, Padeletti M, Alterini B, Pantaleo P, Hu X, Tenori L, Luchinat C
J Cardiovasc Med (Hagerstown) 2014 Apr;15(4):295-300. doi: 10.2459/JCM.0000000000000028. PMID: 24699011
Das B, Shoemaker L, Recto M, Austin E, Dowling R
J Heart Lung Transplant 2008 Feb;27(2):242-4. doi: 10.1016/j.healun.2007.11.569. PMID: 18267235
Walecki J, Michalak MJ, Michalak E, Bilinska ZT, Ruzyllo W
Acad Radiol 2003 Oct;10(10):1187-92. doi: 10.1016/s1076-6332(03)00104-1. PMID: 14587640
Neiman J, Haapaniemi HM, Hillbom M
Eur J Neurol 2000 Nov;7(6):595-606. doi: 10.1046/j.1468-1331.2000.00045.x. PMID: 11136345

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