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Dilated cardiomyopathy 2B(CMD2B)

MedGen UID:
766323
Concept ID:
C3553409
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 2B; CMD2B
 
Gene (location): GATAD1 (7q21.2)
 
Monarch Initiative: MONDO:0013848
OMIM®: 614672

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. [from MONDO]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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.
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.

Recent clinical studies

Etiology

Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC
Orphanet J Rare Dis 2020 Jun 23;15(1):160. doi: 10.1186/s13023-020-01445-1. PMID: 32576226Free PMC Article
Aguadé-Bruix S, Romero-Farina G, Candell-Riera J, Pizzi MN, García-Dorado D
J Nucl Cardiol 2018 Jun;25(3):999-1008. Epub 2016 Nov 1 doi: 10.1007/s12350-016-0684-z. PMID: 27804074
Patel AN, Henry TD, Quyyumi AA, Schaer GL, Anderson RD, Toma C, East C, Remmers AE, Goodrich J, Desai AS, Recker D, DeMaria A; ixCELL-DCM Investigators
Lancet 2016 Jun 11;387(10036):2412-21. Epub 2016 Apr 5 doi: 10.1016/S0140-6736(16)30137-4. PMID: 27059887
Fisher ML, Plotnick GD, Peters RW, Carliner NH
Am J Med 1986 Feb 28;80(2B):59-66. doi: 10.1016/0002-9343(86)90147-6. PMID: 2868660

Diagnosis

Aguadé-Bruix S, Romero-Farina G, Candell-Riera J, Pizzi MN, García-Dorado D
J Nucl Cardiol 2018 Jun;25(3):999-1008. Epub 2016 Nov 1 doi: 10.1007/s12350-016-0684-z. PMID: 27804074
Sveric KM, Ulbrich S, Rady M, Ruf T, Kvakan H, Strasser RH, Jellinghaus S
Circ J 2017 Mar 24;81(4):529-536. Epub 2017 Jan 24 doi: 10.1253/circj.CJ-16-0965. PMID: 28123150
Rosales XQ, Moser SJ, Tran T, McCarthy B, Dunn N, Habib P, Simonetti OP, Mendell JR, Raman SV
J Cardiovasc Magn Reson 2011 Aug 4;13(1):39. doi: 10.1186/1532-429X-13-39. PMID: 21816046Free PMC Article
Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank
Circulation 2007 Mar 13;115(10):1244-51. Epub 2007 Feb 26 doi: 10.1161/CIRCULATIONAHA.106.646778. PMID: 17325244
Unverferth DV, Baker PB
Am J Med 1986 Feb 28;80(2B):22-32. doi: 10.1016/0002-9343(86)90140-3. PMID: 2936239

Therapy

Patel AN, Henry TD, Quyyumi AA, Schaer GL, Anderson RD, Toma C, East C, Remmers AE, Goodrich J, Desai AS, Recker D, DeMaria A; ixCELL-DCM Investigators
Lancet 2016 Jun 11;387(10036):2412-21. Epub 2016 Apr 5 doi: 10.1016/S0140-6736(16)30137-4. PMID: 27059887
Henry TD, Schaer GL, DeMaria A, Recker D, Remmers AE, Goodrich J, Patel AN
Cell Transplant 2016;25(9):1689-1699. Epub 2016 Mar 22 doi: 10.3727/096368916X691295. PMID: 27009022
Bartel RL, Cramer C, Ledford K, Longcore A, Parrish C, Stern T, Watling S, Zeigler F
Stem Cell Res Ther 2012 Jul 9;3(4):26. doi: 10.1186/scrt117. PMID: 22776246Free PMC Article
Baughman KL
Am J Med 1986 Feb 28;80(2B):46-50. doi: 10.1016/0002-9343(86)90144-0. PMID: 3511695
Fisher ML, Plotnick GD, Peters RW, Carliner NH
Am J Med 1986 Feb 28;80(2B):59-66. doi: 10.1016/0002-9343(86)90147-6. PMID: 2868660

Prognosis

Lorenzana-Carrillo MA, Tejay S, Nanoa J, Huang G, Liu Y, Haromy A, Zhao YY, Mendiola Pla M, Bowles DE, Kinnaird A, Michelakis ED, Sutendra G
Circ Res 2024 Jul 5;135(2):301-313. Epub 2024 Jun 11 doi: 10.1161/CIRCRESAHA.123.324202. PMID: 38860363
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Rosales XQ, Moser SJ, Tran T, McCarthy B, Dunn N, Habib P, Simonetti OP, Mendell JR, Raman SV
J Cardiovasc Magn Reson 2011 Aug 4;13(1):39. doi: 10.1186/1532-429X-13-39. PMID: 21816046Free PMC Article
Unverferth DV, Baker PB
Am J Med 1986 Feb 28;80(2B):22-32. doi: 10.1016/0002-9343(86)90140-3. PMID: 2936239
Fisher ML, Plotnick GD, Peters RW, Carliner NH
Am J Med 1986 Feb 28;80(2B):59-66. doi: 10.1016/0002-9343(86)90147-6. PMID: 2868660

Clinical prediction guides

Lorenzana-Carrillo MA, Tejay S, Nanoa J, Huang G, Liu Y, Haromy A, Zhao YY, Mendiola Pla M, Bowles DE, Kinnaird A, Michelakis ED, Sutendra G
Circ Res 2024 Jul 5;135(2):301-313. Epub 2024 Jun 11 doi: 10.1161/CIRCRESAHA.123.324202. PMID: 38860363
Belhassen I, Laroussi S, Sakka S, Rekik S, Lahkim L, Dammak M, Authier FJ, Mhiri C
Neuromuscul Disord 2023 Oct;33(10):718-727. Epub 2023 Aug 18 doi: 10.1016/j.nmd.2023.08.007. PMID: 37716854
Mondragón-Herrera JA, Serrano-Hernández Y, Valero-Elizondo G, Mansilla-Olivares A, Manjarrez-Gutiérrez G
Cir Cir 2022;90(6):781-788. doi: 10.24875/CIRU.21000506. PMID: 36472833
Patel AN, Henry TD, Quyyumi AA, Schaer GL, Anderson RD, Toma C, East C, Remmers AE, Goodrich J, Desai AS, Recker D, DeMaria A; ixCELL-DCM Investigators
Lancet 2016 Jun 11;387(10036):2412-21. Epub 2016 Apr 5 doi: 10.1016/S0140-6736(16)30137-4. PMID: 27059887
Rosales XQ, Moser SJ, Tran T, McCarthy B, Dunn N, Habib P, Simonetti OP, Mendell JR, Raman SV
J Cardiovasc Magn Reson 2011 Aug 4;13(1):39. doi: 10.1186/1532-429X-13-39. PMID: 21816046Free PMC Article