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Cardiomyopathy, dilated, 100(CMD1OO)

MedGen UID:
1840927
Concept ID:
C5830291
Disease or Syndrome
Synonym: Cardiomyopathy, dilated, 1OO
 
Gene (location): VEZF1 (17q22)
 
Monarch Initiative: MONDO:0859381
OMIM®: 620247

Definition

Dilated cardiomyopathy-1OO (CMD1OO) is characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Some patients also exhibit second-degree atrioventricular block and premature ventricular beats (Shi et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). [from OMIM]

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.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Premature ventricular contraction
MedGen UID:
56236
Concept ID:
C0151636
Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Second degree atrioventricular block
MedGen UID:
75546
Concept ID:
C0264906
Disease or Syndrome
An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular 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.

Professional guidelines

PubMed

Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, Garcia-Pavia P
J Am Coll Cardiol 2024 Apr 30;83(17):1640-1651. doi: 10.1016/j.jacc.2024.02.036. PMID: 38658103
Lampejo T, Durkin SM, Bhatt N, Guttmann O
Clin Med (Lond) 2021 Sep;21(5):e505-e510. doi: 10.7861/clinmed.2021-0121. PMID: 34507935Free PMC Article
Scheffold N, Herkommer B, Kandolf R, May AE
Dtsch Arztebl Int 2015 Mar 20;112(12):202-8. doi: 10.3238/arztebl.2015.0202. PMID: 25838022Free PMC Article

Recent clinical studies

Etiology

Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P
Eur Heart J 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030. PMID: 33677556Free PMC Article
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Day E, Rudd JHF
Addiction 2019 Sep;114(9):1670-1678. Epub 2019 Jul 15 doi: 10.1111/add.14703. PMID: 31309639Free PMC Article
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article

Diagnosis

Bourfiss M, van Vugt M, Alasiri AI, Ruijsink B, van Setten J, Schmidt AF, Dooijes D, Puyol-Antón E, Velthuis BK, van Tintelen JP, Te Riele ASJM, Baas AF, Asselbergs FW
Circ Genom Precis Med 2022 Dec;15(6):e003704. Epub 2022 Oct 20 doi: 10.1161/CIRCGEN.122.003704. PMID: 36264615Free PMC Article
Lampejo T, Durkin SM, Bhatt N, Guttmann O
Clin Med (Lond) 2021 Sep;21(5):e505-e510. doi: 10.7861/clinmed.2021-0121. PMID: 34507935Free PMC Article
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R
Circulation 2020 Feb 4;141(5):387-398. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.037661. PMID: 31983221Free PMC Article
Huizar JF, Ellenbogen KA, Tan AY, Kaszala K
J Am Coll Cardiol 2019 May 14;73(18):2328-2344. doi: 10.1016/j.jacc.2019.02.045. PMID: 31072578Free PMC Article

Therapy

Claessen G, De Bosscher R, Janssens K, Young P, Dausin C, Claeys M, Claus P, Goetschalckx K, Bogaert J, Mitchell AM, Flannery MD, Elliott AD, Yu C, Ghekiere O, Robyns T, Van De Heyning CM, Sanders P, Kalman JM, Ohanian M, Soka M, Rath E, Giannoulatou E, Johnson R, Lacaze P, Herbots L, Willems R, Fatkin D, Heidbuchel H, La Gerche A; Pro@Heart Consortium
Circulation 2024 Apr 30;149(18):1405-1415. Epub 2023 Dec 18 doi: 10.1161/CIRCULATIONAHA.122.063777. PMID: 38109351Free PMC Article
van de Vegte YJ, Eppinga RN, van der Ende MY, Hagemeijer YP, Mahendran Y, Salfati E, Smith AV, Tan VY, Arking DE, Ntalla I, Appel EV, Schurmann C, Brody JA, Rueedi R, Polasek O, Sveinbjornsson G, Lecoeur C, Ladenvall C, Zhao JH, Isaacs A, Wang L, Luan J, Hwang SJ, Mononen N, Auro K, Jackson AU, Bielak LF, Zeng L, Shah N, Nethander M, Campbell A, Rankinen T, Pechlivanis S, Qi L, Zhao W, Rizzi F, Tanaka T, Robino A, Cocca M, Lange L, Müller-Nurasyid M, Roselli C, Zhang W, Kleber ME, Guo X, Lin HJ, Pavani F, Galesloot TE, Noordam R, Milaneschi Y, Schraut KE, den Hoed M, Degenhardt F, Trompet S, van den Berg ME, Pistis G, Tham YC, Weiss S, Sim XS, Li HL, van der Most PJ, Nolte IM, Lyytikäinen LP, Said MA, Witte DR, Iribarren C, Launer L, Ring SM, de Vries PS, Sever P, Linneberg A, Bottinger EP, Padmanabhan S, Psaty BM, Sotoodehnia N, Kolcic I; DCCT/EDIC Research Group, Arnar DO, Gudbjartsson DF, Holm H, Balkau B, Silva CT, Newton-Cheh CH, Nikus K, Salo P, Mohlke KL, Peyser PA, Schunkert H, Lorentzon M, Lahti J, Rao DC, Cornelis MC, Faul JD, Smith JA, Stolarz-Skrzypek K, Bandinelli S, Concas MP, Sinagra G, Meitinger T, Waldenberger M, Sinner MF, Strauch K, Delgado GE, Taylor KD, Yao J, Foco L, Melander O, de Graaf J, de Mutsert R, de Geus EJC, Johansson Å, Joshi PK, Lind L, Franke A, Macfarlane PW, Tarasov KV, Tan N, Felix SB, Tai ES, Quek DQ, Snieder H, Ormel J, Ingelsson M, Lindgren C, Morris AP, Raitakari OT, Hansen T, Assimes T, Gudnason V, Timpson NJ, Morrison AC, Munroe PB, Strachan DP, Grarup N, Loos RJF, Heckbert SR, Vollenweider P, Hayward C, Stefansson K, Froguel P, Groop L, Wareham NJ, van Duijn CM, Feitosa MF, O'Donnell CJ, Kähönen M, Perola M, Boehnke M, Kardia SLR, Erdmann J, Palmer CNA, Ohlsson C, Porteous DJ, Eriksson JG, Bouchard C, Moebus S, Kraft P, Weir DR, Cusi D, Ferrucci L, Ulivi S, Girotto G, Correa A, Kääb S, Peters A, Chambers JC, Kooner JS, März W, Rotter JI, Hicks AA, Smith JG, Kiemeney LALM, Mook-Kanamori DO, Penninx BWJH, Gyllensten U, Wilson JF, Burgess S, Sundström J, Lieb W, Jukema JW, Eijgelsheim M, Lakatta ELM, Cheng CY, Dörr M, Wong TY, Sabanayagam C, Oldehinkel AJ, Riese H, Lehtimäki T, Verweij N, van der Harst P
Nat Commun 2023 Aug 2;14(1):4646. doi: 10.1038/s41467-023-39521-2. PMID: 37532724Free PMC Article
MacRae CA, Taylor MRG, Mestroni L, Moses J, Ashley EA, Wheeler MT, Lakdawala NK, Hershberger RE, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP
Circ Genom Precis Med 2023 Feb;16(1):e003730. Epub 2022 Dec 14 doi: 10.1161/CIRCGEN.122.003730. PMID: 36515663Free PMC Article
Zeppenfeld K, Wijnmaalen AP, Ebert M, Baldinger SH, Berruezo A, Catto V, Vaseghi M, Arya A, Kumar S, de Riva M, Deneke T, Gaspar T, Soejima K, van Rein N, Tedrow UB, Piorkowski C, Shivkumar K, Carbucicchio C, Hindricks G, Stevenson WG
J Am Coll Cardiol 2022 Sep 13;80(11):1045-1056. doi: 10.1016/j.jacc.2022.06.035. PMID: 36075673
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article

Prognosis

Zeppenfeld K, Wijnmaalen AP, Ebert M, Baldinger SH, Berruezo A, Catto V, Vaseghi M, Arya A, Kumar S, de Riva M, Deneke T, Gaspar T, Soejima K, van Rein N, Tedrow UB, Piorkowski C, Shivkumar K, Carbucicchio C, Hindricks G, Stevenson WG
J Am Coll Cardiol 2022 Sep 13;80(11):1045-1056. doi: 10.1016/j.jacc.2022.06.035. PMID: 36075673
Lampejo T, Durkin SM, Bhatt N, Guttmann O
Clin Med (Lond) 2021 Sep;21(5):e505-e510. doi: 10.7861/clinmed.2021-0121. PMID: 34507935Free PMC Article
Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D
Heart Lung Circ 2020 Apr;29(4):566-574. Epub 2019 Dec 17 doi: 10.1016/j.hlc.2019.11.018. PMID: 31974027
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article

Clinical prediction guides

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R
Circulation 2020 Feb 4;141(5):387-398. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.037661. PMID: 31983221Free PMC Article
Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D
Heart Lung Circ 2020 Apr;29(4):566-574. Epub 2019 Dec 17 doi: 10.1016/j.hlc.2019.11.018. PMID: 31974027
Day E, Rudd JHF
Addiction 2019 Sep;114(9):1670-1678. Epub 2019 Jul 15 doi: 10.1111/add.14703. PMID: 31309639Free PMC Article
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
Huizar JF, Ellenbogen KA, Tan AY, Kaszala K
J Am Coll Cardiol 2019 May 14;73(18):2328-2344. doi: 10.1016/j.jacc.2019.02.045. PMID: 31072578Free PMC Article

Recent systematic reviews

Bian RT, Wang ZT, Li WY
Medicine (Baltimore) 2021 Jul 2;100(26):e26475. doi: 10.1097/MD.0000000000026475. PMID: 34190171Free PMC Article
Snel GJH, van den Boomen M, Hernandez LM, Nguyen CT, Sosnovik DE, Velthuis BK, Slart RHJA, Borra RJH, Prakken NHJ
J Cardiovasc Magn Reson 2020 May 11;22(1):34. doi: 10.1186/s12968-020-00627-x. PMID: 32393281Free PMC Article
Aung N, Doimo S, Ricci F, Sanghvi MM, Pedrosa C, Woodbridge SP, Al-Balah A, Zemrak F, Khanji MY, Munroe PB, Naci H, Petersen SE
Circ Cardiovasc Imaging 2020 Jan;13(1):e009712. Epub 2020 Jan 21 doi: 10.1161/CIRCIMAGING.119.009712. PMID: 31959004Free PMC Article
Erqou S, Lodebo BT, Masri A, Altibi AM, Echouffo-Tcheugui JB, Dzudie A, Ataklte F, Choudhary G, Bloomfield GS, Wu WC, Kengne AP
JACC Heart Fail 2019 Feb;7(2):98-108. doi: 10.1016/j.jchf.2018.10.006. PMID: 30704613
Sannino A, Smith RL 2nd, Schiattarella GG, Trimarco B, Esposito G, Grayburn PA
JAMA Cardiol 2017 Oct 1;2(10):1130-1139. doi: 10.1001/jamacardio.2017.2976. PMID: 28877291Free PMC Article

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