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Primary familial dilated cardiomyopathy(FDC)

MedGen UID:
90951
•Concept ID:
C0340427
•
Disease or Syndrome
Synonyms: 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

Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.
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
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
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
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
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

Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.
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
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
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
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Identification of MYLK3 mutations in familial dilated cardiomyopathy.
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
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
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

Diagnosis

Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.
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
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
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
Heart failure: advanced development in genetics and epigenetics.
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
How do mutations in contractile proteins cause the primary familial cardiomyopathies?
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
Molecular and clinical aspects of inherited cardiomyopathies.
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

Therapy

A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.
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
Treatment of pre-existing cardiomyopathy during pregnancy.
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
Pregnancy outcome and management of women with an implantable cardioverter defibrillator: a single centre experience.
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
A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy.
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

Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
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
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy.
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
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.
Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, Xu YJ, Zhang M, Fang WY, Qu XK, Yang YQ, Qiu XB
Int J Mol Med 2014 Nov;34(5):1315-22. Epub 2014 Aug 13 doi: 10.3892/ijmm.2014.1896. PMID: 25119427
Molecular and clinical aspects of inherited cardiomyopathies.
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

Clinical prediction guides

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
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
Identification of MYLK3 mutations in familial dilated cardiomyopathy.
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
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.
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
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.
Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, Xu YJ, Zhang M, Fang WY, Qu XK, Yang YQ, Qiu XB
Int J Mol Med 2014 Nov;34(5):1315-22. Epub 2014 Aug 13 doi: 10.3892/ijmm.2014.1896. PMID: 25119427
Molecular and clinical aspects of inherited cardiomyopathies.
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

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