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Dilated cardiomyopathy 1P(CMD1P)

MedGen UID:
322782
Concept ID:
C1835928
Disease or Syndrome
Synonyms: CMD1P; PLN-Related Dilated Cardiomyopathy
 
Gene (location): PLN (6q22.31)
 
Monarch Initiative: MONDO:0012362
OMIM®: 609909

Definition

An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban. [from NCI]

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.
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.
Reduced systolic function
MedGen UID:
870560
Concept ID:
C4025008
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Bertero E, Fracasso G, Eustachi V, Coviello D, Cecconi M, Giovinazzo S, Toma M, Merlo M, Sinagra G, Porto I, Ameri P, Canepa M
ESC Heart Fail 2023 Aug;10(4):2745-2750. Epub 2023 Jun 6 doi: 10.1002/ehf2.14395. PMID: 37282787Free PMC Article
Choi Y, Kim SM, Lee SC, Chang SA, Jang SY, Choe YH
J Cardiovasc Magn Reson 2016 May 4;18(1):24. doi: 10.1186/s12968-016-0245-2. PMID: 27142637Free PMC Article
Spinelli L, Petretta M, Vicario ML, Schiavone D, De Santis V, Bonaduce D, Condorelli M
Am Heart J 2002 Mar;143(3):433-40. doi: 10.1067/mhj.2002.119893. PMID: 11868048

Recent clinical studies

Etiology

Ostovar R, Schmidt M, Schroeter F, Kuehnel RU, Rashvand J, Hartrumpf M, Albes JM
Medicina (Kaunas) 2022 Sep 5;58(9) doi: 10.3390/medicina58091220. PMID: 36143897Free PMC Article
Demir E, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Öztürk RO, Dadaş ÖF, Orman MN, Zoghi M, Akıllı A, Ceylan N, Gürgün C, Nalbantgil S
ESC Heart Fail 2022 Dec;9(6):4219-4229. Epub 2022 Sep 16 doi: 10.1002/ehf2.14081. PMID: 36111517Free PMC Article
Goli R, Li J, Brandimarto J, Levine LD, Riis V, McAfee Q, DePalma S, Haghighi A, Seidman JG, Seidman CE, Jacoby D, Macones G, Judge DP, Rana S, Margulies KB, Cappola TP, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Alexis JD, Boehmer J, Kamiya C, Gustafsson F, Damm P, Ersbøll AS, Goland S, Hilfiker-Kleiner D, McNamara DM; IMAC-2 and IPAC Investigators, Arany Z
Circulation 2021 May 11;143(19):1852-1862. Epub 2021 Apr 20 doi: 10.1161/CIRCULATIONAHA.120.052395. PMID: 33874732Free PMC Article
Puntmann VO, Carr-White G, Jabbour A, Yu CY, Gebker R, Kelle S, Hinojar R, Doltra A, Varma N, Child N, Rogers T, Suna G, Arroyo Ucar E, Goodman B, Khan S, Dabir D, Herrmann E, Zeiher AM, Nagel E; International T1 Multicentre CMR Outcome Study
JACC Cardiovasc Imaging 2016 Jan;9(1):40-50. doi: 10.1016/j.jcmg.2015.12.001. PMID: 26762873
Holdright DR, Clarke D, Fox K, Poole-Wilson PA, Collins P
Eur Heart J 1994 Nov;15(11):1537-44. doi: 10.1093/oxfordjournals.eurheartj.a060427. PMID: 7530661

Diagnosis

Demir E, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Öztürk RO, Dadaş ÖF, Orman MN, Zoghi M, Akıllı A, Ceylan N, Gürgün C, Nalbantgil S
ESC Heart Fail 2022 Dec;9(6):4219-4229. Epub 2022 Sep 16 doi: 10.1002/ehf2.14081. PMID: 36111517Free PMC Article
Bourke JP, Bueser T, Quinlivan R
Cochrane Database Syst Rev 2018 Oct 16;10(10):CD009068. doi: 10.1002/14651858.CD009068.pub3. PMID: 30326162Free PMC Article
Puntmann VO, Carr-White G, Jabbour A, Yu CY, Gebker R, Kelle S, Hinojar R, Doltra A, Varma N, Child N, Rogers T, Suna G, Arroyo Ucar E, Goodman B, Khan S, Dabir D, Herrmann E, Zeiher AM, Nagel E; International T1 Multicentre CMR Outcome Study
JACC Cardiovasc Imaging 2016 Jan;9(1):40-50. doi: 10.1016/j.jcmg.2015.12.001. PMID: 26762873
Robinson J, Hartling L, Vandermeer B, Klassen TP
Cochrane Database Syst Rev 2015 May 20;(5):CD004370. doi: 10.1002/14651858.CD004370.pub3. PMID: 25992494
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE
N Engl J Med 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. PMID: 22335739Free PMC Article

Therapy

Kahle AK, Senges J, Hochadel M, Brachmann J, Thomas D, Straube F, Bonaventura K, Larbig R, Werner N, Butter C, Alken FA, Meyer C
Sci Rep 2023 Jul 27;13(1):12182. doi: 10.1038/s41598-023-37440-2. PMID: 37500680Free PMC Article
Bourke JP, Bueser T, Quinlivan R
Cochrane Database Syst Rev 2018 Oct 16;10(10):CD009068. doi: 10.1002/14651858.CD009068.pub3. PMID: 30326162Free PMC Article
Wijesurendra RS, Liu A, Eichhorn C, Ariga R, Levelt E, Clarke WT, Rodgers CT, Karamitsos TD, Bashir Y, Ginks M, Rajappan K, Betts T, Ferreira VM, Neubauer S, Casadei B
Circulation 2016 Oct 11;134(15):1068-1081. Epub 2016 Sep 14 doi: 10.1161/CIRCULATIONAHA.116.022931. PMID: 27630135Free PMC Article
Robinson J, Hartling L, Vandermeer B, Klassen TP
Cochrane Database Syst Rev 2015 May 20;(5):CD004370. doi: 10.1002/14651858.CD004370.pub3. PMID: 25992494
Tuunanen H, Engblom E, Naum A, Scheinin M, Någren K, Airaksinen J, Nuutila P, Iozzo P, Ukkonen H, Knuuti J
J Card Fail 2006 Oct;12(8):644-52. doi: 10.1016/j.cardfail.2006.06.005. PMID: 17045185

Prognosis

Demir E, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Öztürk RO, Dadaş ÖF, Orman MN, Zoghi M, Akıllı A, Ceylan N, Gürgün C, Nalbantgil S
ESC Heart Fail 2022 Dec;9(6):4219-4229. Epub 2022 Sep 16 doi: 10.1002/ehf2.14081. PMID: 36111517Free PMC Article
Huang H, Chen Y, Jin J, Du R, Tang K, Fan L, Xiang R
J Gene Med 2022 Jan;24(1):e3390. Epub 2021 Oct 15 doi: 10.1002/jgm.3390. PMID: 34558151
Li Y, Godown J, Taylor CL, Dipchand AI, Bowen VM, Feingold B
J Heart Lung Transplant 2021 Oct;40(10):1191-1198. Epub 2021 Jul 10 doi: 10.1016/j.healun.2021.06.017. PMID: 34330606
Goli R, Li J, Brandimarto J, Levine LD, Riis V, McAfee Q, DePalma S, Haghighi A, Seidman JG, Seidman CE, Jacoby D, Macones G, Judge DP, Rana S, Margulies KB, Cappola TP, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Alexis JD, Boehmer J, Kamiya C, Gustafsson F, Damm P, Ersbøll AS, Goland S, Hilfiker-Kleiner D, McNamara DM; IMAC-2 and IPAC Investigators, Arany Z
Circulation 2021 May 11;143(19):1852-1862. Epub 2021 Apr 20 doi: 10.1161/CIRCULATIONAHA.120.052395. PMID: 33874732Free PMC Article
Puntmann VO, Carr-White G, Jabbour A, Yu CY, Gebker R, Kelle S, Hinojar R, Doltra A, Varma N, Child N, Rogers T, Suna G, Arroyo Ucar E, Goodman B, Khan S, Dabir D, Herrmann E, Zeiher AM, Nagel E; International T1 Multicentre CMR Outcome Study
JACC Cardiovasc Imaging 2016 Jan;9(1):40-50. doi: 10.1016/j.jcmg.2015.12.001. PMID: 26762873

Clinical prediction guides

Ostovar R, Schmidt M, Schroeter F, Kuehnel RU, Rashvand J, Hartrumpf M, Albes JM
Medicina (Kaunas) 2022 Sep 5;58(9) doi: 10.3390/medicina58091220. PMID: 36143897Free PMC Article
Demir E, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Öztürk RO, Dadaş ÖF, Orman MN, Zoghi M, Akıllı A, Ceylan N, Gürgün C, Nalbantgil S
ESC Heart Fail 2022 Dec;9(6):4219-4229. Epub 2022 Sep 16 doi: 10.1002/ehf2.14081. PMID: 36111517Free PMC Article
Goli R, Li J, Brandimarto J, Levine LD, Riis V, McAfee Q, DePalma S, Haghighi A, Seidman JG, Seidman CE, Jacoby D, Macones G, Judge DP, Rana S, Margulies KB, Cappola TP, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Alexis JD, Boehmer J, Kamiya C, Gustafsson F, Damm P, Ersbøll AS, Goland S, Hilfiker-Kleiner D, McNamara DM; IMAC-2 and IPAC Investigators, Arany Z
Circulation 2021 May 11;143(19):1852-1862. Epub 2021 Apr 20 doi: 10.1161/CIRCULATIONAHA.120.052395. PMID: 33874732Free PMC Article
Puntmann VO, Carr-White G, Jabbour A, Yu CY, Gebker R, Kelle S, Hinojar R, Doltra A, Varma N, Child N, Rogers T, Suna G, Arroyo Ucar E, Goodman B, Khan S, Dabir D, Herrmann E, Zeiher AM, Nagel E; International T1 Multicentre CMR Outcome Study
JACC Cardiovasc Imaging 2016 Jan;9(1):40-50. doi: 10.1016/j.jcmg.2015.12.001. PMID: 26762873
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE
N Engl J Med 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. PMID: 22335739Free PMC Article

Recent systematic reviews

D'Ascenzi F, Valentini F, Pistoresi S, Frascaro F, Piu P, Cavigli L, Valente S, Focardi M, Cameli M, Bonifazi M, Metra M, Mondillo S
Trends Cardiovasc Med 2022 Jul;32(5):299-308. Epub 2021 Jun 22 doi: 10.1016/j.tcm.2021.06.001. PMID: 34166791
Bourke JP, Bueser T, Quinlivan R
Cochrane Database Syst Rev 2018 Oct 16;10(10):CD009068. doi: 10.1002/14651858.CD009068.pub3. PMID: 30326162Free PMC Article
Robinson J, Hartling L, Vandermeer B, Klassen TP
Cochrane Database Syst Rev 2015 May 20;(5):CD004370. doi: 10.1002/14651858.CD004370.pub3. PMID: 25992494

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