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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
Mikami Y, Cornhill A, Heydari B, Joncas SX, Almehmadi F, Zahrani M, Bokhari M, Stirrat J, Yee R, Merchant N, Lydell CP, Howarth AG, White JA
J Cardiovasc Magn Reson 2016 Nov 14;18(1):82. doi: 10.1186/s12968-016-0300-z. PMID: 27839514Free 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

Recent clinical studies

Etiology

Zuin M, Rigatelli G, Porcari A, Merlo M, Bilato C, Roncon L, Sinagra G
J Cardiovasc Med (Hagerstown) 2023 Aug 1;24(8):530-536. Epub 2023 Jun 26 doi: 10.2459/JCM.0000000000001512. PMID: 37409598
Zhao Y, Li H, Du H, Yin Z, He M, Fan J, Nie X, Sun Y, Hou H, Dai B, Zhang X, Cai Y, Jin K, Ding N, Wen Z, Chang J, Chen C, Wang DW
Signal Transduct Target Ther 2023 Jun 9;8(1):226. doi: 10.1038/s41392-023-01434-3. PMID: 37291118Free PMC Article
Henkens MTHM, López Martínez H, Weerts J, Sammani A, Raafs AG, Verdonschot JAJ, van de Leur RR, Sikking MA, Stroeks S, van Empel VPM, Brunner-La Rocca HP, van Stipdonk AMW, Farmakis D, Hazebroek MR, Vernooy K, Bayés-de-Luna A, Asselbergs FW, Bayés-Genís A, Heymans SRB
J Am Heart Assoc 2022 Jul 19;11(14):e025473. Epub 2022 Jul 15 doi: 10.1161/JAHA.121.025473. PMID: 35861818Free 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
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P
J Am Coll Cardiol 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. PMID: 29773157Free PMC Article

Diagnosis

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
Henkens MTHM, López Martínez H, Weerts J, Sammani A, Raafs AG, Verdonschot JAJ, van de Leur RR, Sikking MA, Stroeks S, van Empel VPM, Brunner-La Rocca HP, van Stipdonk AMW, Farmakis D, Hazebroek MR, Vernooy K, Bayés-de-Luna A, Asselbergs FW, Bayés-Genís A, Heymans SRB
J Am Heart Assoc 2022 Jul 19;11(14):e025473. Epub 2022 Jul 15 doi: 10.1161/JAHA.121.025473. PMID: 35861818Free PMC Article
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P
J Am Coll Cardiol 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. PMID: 29773157Free 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

Therapy

Garcia-Pavia P, Palomares JFR, Sinagra G, Barriales-Villa R, Lakdawala NK, Gottlieb RL, Goldberg RI, Elliott P, Lee P, Li H, Angeli FS, Judge DP, MacRae CA; REALM-DCM Investigators
Circ Heart Fail 2024 Jul;17(7):e011548. Epub 2024 Jul 9 doi: 10.1161/CIRCHEARTFAILURE.123.011548. PMID: 38979608Free PMC Article
Sjöland H, Silverdal J, Bollano E, Pivodic A, Dahlström U, Fu M
BMC Cardiovasc Disord 2021 Jun 18;21(1):307. doi: 10.1186/s12872-021-02124-0. PMID: 34144681Free PMC Article
Yoshikawa T, Baba A, Akaishi M, Wakabayashi Y, Monkawa T, Kitakaze M, Izumi T, Tomoike H
J Clin Apher 2016 Dec;31(6):535-544. Epub 2016 Jan 23 doi: 10.1002/jca.21446. PMID: 26801483Free PMC Article
Vizzardi E, Pina PD, Caretta G, Bonadei I, Sciatti E, Lombardi C, D'Aloia A, Curnis A, Metra M
J Cardiovasc Med (Hagerstown) 2015 Sep;16(9):597-602. doi: 10.2459/JCM.0000000000000102. PMID: 24978872
Askari H, Semizel E, Bostan OM, Cil E
Turk J Pediatr 2009 Jan-Feb;51(1):22-7. PMID: 19378887

Prognosis

Zuin M, Rigatelli G, Porcari A, Merlo M, Bilato C, Roncon L, Sinagra G
J Cardiovasc Med (Hagerstown) 2023 Aug 1;24(8):530-536. Epub 2023 Jun 26 doi: 10.2459/JCM.0000000000001512. PMID: 37409598
Henkens MTHM, López Martínez H, Weerts J, Sammani A, Raafs AG, Verdonschot JAJ, van de Leur RR, Sikking MA, Stroeks S, van Empel VPM, Brunner-La Rocca HP, van Stipdonk AMW, Farmakis D, Hazebroek MR, Vernooy K, Bayés-de-Luna A, Asselbergs FW, Bayés-Genís A, Heymans SRB
J Am Heart Assoc 2022 Jul 19;11(14):e025473. Epub 2022 Jul 15 doi: 10.1161/JAHA.121.025473. PMID: 35861818Free 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
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P
J Am Coll Cardiol 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. PMID: 29773157Free 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

Henkens MTHM, López Martínez H, Weerts J, Sammani A, Raafs AG, Verdonschot JAJ, van de Leur RR, Sikking MA, Stroeks S, van Empel VPM, Brunner-La Rocca HP, van Stipdonk AMW, Farmakis D, Hazebroek MR, Vernooy K, Bayés-de-Luna A, Asselbergs FW, Bayés-Genís A, Heymans SRB
J Am Heart Assoc 2022 Jul 19;11(14):e025473. Epub 2022 Jul 15 doi: 10.1161/JAHA.121.025473. PMID: 35861818Free 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
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P
J Am Coll Cardiol 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. PMID: 29773157Free 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

Supplemental Content

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