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Cardiomyopathy, dilated, 2I(CMD2I)

MedGen UID:
1841321
Concept ID:
C5830685
Disease or Syndrome
Synonym: CMD2I
 
Gene (location): CAP2 (6p22.3)
 
Monarch Initiative: MONDO:0957545
OMIM®: 620462

Definition

Dilated cardiomyopathy-2I (CMD2I) is characterized by early-onset severe congestive heart failure. Some patients experience supraventricular tachycardia. Structural heart defects and nemaline bodies in cardiac and skeletal muscle have been observed (Aspit et al., 2019; Cheema et al., 2020; Gurunathan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 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.
Supraventricular tachycardia
MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
Severely reduced left ventricular ejection fraction
MedGen UID:
868396
Concept ID:
C4022790
Finding
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.

Professional guidelines

PubMed

Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M
Genes (Basel) 2019 Oct 29;10(11) doi: 10.3390/genes10110856. PMID: 31671740Free PMC Article

Recent clinical studies

Etiology

Jung P, Seibertz F, Fakuade FE, Ignatyeva N, Sampathkumar S, Ritter M, Li H, Mason FE, Ebert A, Voigt N
Basic Res Cardiol 2022 May 2;117(1):5. doi: 10.1007/s00395-022-00912-z. PMID: 35499658Free PMC Article
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
El-Battrawy I, Zhao Z, Lan H, Li X, Yücel G, Lang S, Sattler K, Schünemann JD, Zimmermann WH, Cyganek L, Utikal J, Wieland T, Bieback K, Bauer R, Ratte A, Pribe-Wolferts R, Rapti K, Nowak D, Wittig J, Thomas D, Most P, Katus HA, Ravens U, Schmidt C, Borggrefe M, Zhou XB, Müller OJ, Akin I
Circ Genom Precis Med 2018 Mar;11(3):e001893. doi: 10.1161/CIRCGEN.117.001893. PMID: 29545480
Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ
Neuromuscul Disord 2013 Aug;23(8):675-81. Epub 2013 Jun 22 doi: 10.1016/j.nmd.2013.05.010. PMID: 23800702
Groh WJ
Heart Rhythm 2012 Nov;9(11):1890-5. Epub 2012 Jun 30 doi: 10.1016/j.hrthm.2012.06.038. PMID: 22760083

Diagnosis

Jung P, Seibertz F, Fakuade FE, Ignatyeva N, Sampathkumar S, Ritter M, Li H, Mason FE, Ebert A, Voigt N
Basic Res Cardiol 2022 May 2;117(1):5. doi: 10.1007/s00395-022-00912-z. PMID: 35499658Free PMC Article
Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M
Genes (Basel) 2019 Oct 29;10(11) doi: 10.3390/genes10110856. PMID: 31671740Free PMC Article
El-Battrawy I, Zhao Z, Lan H, Li X, Yücel G, Lang S, Sattler K, Schünemann JD, Zimmermann WH, Cyganek L, Utikal J, Wieland T, Bieback K, Bauer R, Ratte A, Pribe-Wolferts R, Rapti K, Nowak D, Wittig J, Thomas D, Most P, Katus HA, Ravens U, Schmidt C, Borggrefe M, Zhou XB, Müller OJ, Akin I
Circ Genom Precis Med 2018 Mar;11(3):e001893. doi: 10.1161/CIRCGEN.117.001893. PMID: 29545480
Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ
Neuromuscul Disord 2013 Aug;23(8):675-81. Epub 2013 Jun 22 doi: 10.1016/j.nmd.2013.05.010. PMID: 23800702
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

Therapy

Feldman AM, Gordon J, Wang J, Song J, Zhang XQ, Myers VD, Tilley DG, Gao E, Hoffman NE, Tomar D, Madesh M, Rabinowitz J, Koch WJ, Su F, Khalili K, Cheung JY
J Mol Cell Cardiol 2016 Mar;92:10-20. Epub 2016 Jan 19 doi: 10.1016/j.yjmcc.2016.01.015. PMID: 26796036Free PMC Article
Osterziel KJ, Bode-Böger SM, Strohm O, Ellmer AE, Bit-Avragim N, Hänlein D, Ranke MB, Dietz R, Böger RH
Cardiovasc Res 2000 Jan 14;45(2):447-53. doi: 10.1016/s0008-6363(99)00345-4. PMID: 10728365

Prognosis

Frustaci A, De Luca A, Guida V, Biagini T, Mazza T, Gaudio C, Letizia C, Russo MA, Galea N, Chimenti C
J Am Heart Assoc 2018 Feb 10;7(4) doi: 10.1161/JAHA.117.008068. PMID: 29440008Free PMC Article
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
Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

Clinical prediction guides

Jung P, Seibertz F, Fakuade FE, Ignatyeva N, Sampathkumar S, Ritter M, Li H, Mason FE, Ebert A, Voigt N
Basic Res Cardiol 2022 May 2;117(1):5. doi: 10.1007/s00395-022-00912-z. PMID: 35499658Free PMC Article
Feldman AM, Gordon J, Wang J, Song J, Zhang XQ, Myers VD, Tilley DG, Gao E, Hoffman NE, Tomar D, Madesh M, Rabinowitz J, Koch WJ, Su F, Khalili K, Cheung JY
J Mol Cell Cardiol 2016 Mar;92:10-20. Epub 2016 Jan 19 doi: 10.1016/j.yjmcc.2016.01.015. PMID: 26796036Free PMC Article
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
Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E
Arch Neurol 2005 Dec;62(12):1894-9. doi: 10.1001/archneur.62.12.1894. PMID: 16344347
Ogasawara S, Sekiguchi M, Hiroe M, Komazawa T, Kawai Y, Fujita N, Nakamura K, Kasanuki H, Tanaka E, Kobayashi K
Jpn Circ J 1987 Jun;51(6):699-706. doi: 10.1253/jcj.51.699. PMID: 3669277

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