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Primary familial dilated cardiomyopathy(FDC)

MedGen UID:
90951
Concept ID:
C0340427
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL DILATED, 1; Familial dilated cardiomyopathy; FDC; Hypokinetic dilated cardiomyopathy, familial
SNOMED CT: Familial dilated cardiomyopathy (52029003); Primary familial dilated cardiomyopathy (52029003)
 
Related genes: RBM20, NEXN, LDB3, ABCC9, BAG3, TCAP, CSRP3, VCL, TTN, TPM1, TNNT2, TNNI3, TNNC1, TAFAZZIN, SGCD, SDHA, SCN5A, PSEN2, PLN, MYH7, MYH6, LMNA, LAMA4, FKTN, EYA4, DSG2, DES, CRYAB, ACTN2, ACTC1
 
Monarch Initiative: MONDO:0016333
OMIM® Phenotypic series: PS115200
Orphanet: ORPHA217607

Definition

A a genetic form of heart disease that 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. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Primary familial dilated cardiomyopathy in Orphanet.

Professional guidelines

PubMed

García-Hernandez S, Iglesias LM
Curr Cardiol Rep 2022 Nov;24(11):1537-1546. Epub 2022 Aug 22 doi: 10.1007/s11886-022-01772-8. PMID: 35994197
Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE
J Am Heart Assoc 2020 Jun 2;9(11):e016195. Epub 2020 May 27 doi: 10.1161/JAHA.120.016195. PMID: 32458740Free PMC Article
Peters S, Kumar S, Elliott P, Kalman JM, Fatkin D
Heart Lung Circ 2019 Jan;28(1):31-38. Epub 2018 Oct 11 doi: 10.1016/j.hlc.2018.09.010. PMID: 30482687

Recent clinical studies

Etiology

García-Hernandez S, Iglesias LM
Curr Cardiol Rep 2022 Nov;24(11):1537-1546. Epub 2022 Aug 22 doi: 10.1007/s11886-022-01772-8. PMID: 35994197
Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE
J Am Heart Assoc 2020 Jun 2;9(11):e016195. Epub 2020 May 27 doi: 10.1161/JAHA.120.016195. PMID: 32458740Free PMC Article
Peters S, Kumar S, Elliott P, Kalman JM, Fatkin D
Heart Lung Circ 2019 Jan;28(1):31-38. Epub 2018 Oct 11 doi: 10.1016/j.hlc.2018.09.010. PMID: 30482687
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Tobita T, Nomura S, Morita H, Ko T, Fujita T, Toko H, Uto K, Hagiwara N, Aburatani H, Komuro I
Sci Rep 2017 Dec 13;7(1):17495. doi: 10.1038/s41598-017-17769-1. PMID: 29235529Free PMC Article

Diagnosis

García-Hernandez S, Iglesias LM
Curr Cardiol Rep 2022 Nov;24(11):1537-1546. Epub 2022 Aug 22 doi: 10.1007/s11886-022-01772-8. PMID: 35994197
Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE
J Am Heart Assoc 2020 Jun 2;9(11):e016195. Epub 2020 May 27 doi: 10.1161/JAHA.120.016195. PMID: 32458740Free PMC Article
Peters S, Kumar S, Elliott P, Kalman JM, Fatkin D
Heart Lung Circ 2019 Jan;28(1):31-38. Epub 2018 Oct 11 doi: 10.1016/j.hlc.2018.09.010. PMID: 30482687
Yang J, Xu WW, Hu SJ
Biomed Res Int 2015;2015:352734. Epub 2015 Apr 9 doi: 10.1155/2015/352734. PMID: 25949994Free PMC Article
Marston SB
J Cardiovasc Transl Res 2011 Jun;4(3):245-55. Epub 2011 Mar 22 doi: 10.1007/s12265-011-9266-2. PMID: 21424860

Therapy

Yuan F, Qiu XB, Li RG, Qu XK, Wang J, Xu YJ, Liu X, Fang WY, Yang YQ, Liao DN
Int J Mol Med 2015 Feb;35(2):478-86. Epub 2014 Dec 9 doi: 10.3892/ijmm.2014.2029. PMID: 25503402
Gevaert S, De Pauw M, Tromp F, Ascoop AK, Roelens K, De Backer J
Acta Cardiol 2014 Apr;69(2):193-6. doi: 10.1080/ac.69.2.3017302. PMID: 24783472
Schuler PK, Herrey A, Wade A, Brooks R, Peebles D, Lambiase P, Walker F
Europace 2012 Dec;14(12):1740-5. Epub 2012 Jun 27 doi: 10.1093/europace/eus172. PMID: 22744770
Yeoh T, Hayward C, Benson V, Sheu A, Richmond Z, Feneley MP, Keogh AM, Macdonald P, Fatkin D
Heart Lung Circ 2011 Sep;20(9):566-73. Epub 2011 Jul 16 doi: 10.1016/j.hlc.2011.06.004. PMID: 21763198

Prognosis

Rao RA, Kozaily E, Jawaid O, Sabra M, El-Am EA, Chaaya RGB, Woiewodski L, Elsemesmani H, Ramchandani J, Shah C, Guglin M, Das MK
Am J Cardiol 2022 Sep 15;179:83-89. Epub 2022 Jul 29 doi: 10.1016/j.amjcard.2022.06.018. PMID: 35909017
Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE
J Am Heart Assoc 2020 Jun 2;9(11):e016195. Epub 2020 May 27 doi: 10.1161/JAHA.120.016195. PMID: 32458740Free PMC Article
Peters S, Kumar S, Elliott P, Kalman JM, Fatkin D
Heart Lung Circ 2019 Jan;28(1):31-38. Epub 2018 Oct 11 doi: 10.1016/j.hlc.2018.09.010. PMID: 30482687
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Xu JH, Gu JY, Guo YH, Zhang H, Qiu XB, Li RG, Shi HY, Liu H, Yang XX, Xu YJ, Qu XK, Yang YQ
Int Heart J 2017 Aug 3;58(4):521-529. Epub 2017 Jul 10 doi: 10.1536/ihj.16-440. PMID: 28690296

Clinical prediction guides

Rao RA, Kozaily E, Jawaid O, Sabra M, El-Am EA, Chaaya RGB, Woiewodski L, Elsemesmani H, Ramchandani J, Shah C, Guglin M, Das MK
Am J Cardiol 2022 Sep 15;179:83-89. Epub 2022 Jul 29 doi: 10.1016/j.amjcard.2022.06.018. PMID: 35909017
Quiat D, Witkowski L, Zouk H, Daly KP, Roberts AE
J Am Heart Assoc 2020 Jun 2;9(11):e016195. Epub 2020 May 27 doi: 10.1161/JAHA.120.016195. PMID: 32458740Free PMC Article
Tobita T, Nomura S, Morita H, Ko T, Fujita T, Toko H, Uto K, Hagiwara N, Aburatani H, Komuro I
Sci Rep 2017 Dec 13;7(1):17495. doi: 10.1038/s41598-017-17769-1. PMID: 29235529Free PMC Article
Lynn ML, Tal Grinspan L, Holeman TA, Jimenez J, Strom J, Tardiff JC
J Mol Cell Cardiol 2017 Jul;108:127-137. Epub 2017 Jun 7 doi: 10.1016/j.yjmcc.2017.06.001. PMID: 28600229Free PMC Article
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

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