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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®: 600884
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]

Clinical features

From HPO
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
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.
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome

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
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

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
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

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
Durand JB, Abchee AB, Roberts R
Ann Med 1995 Jun;27(3):311-7. doi: 10.3109/07853899509002583. PMID: 7546620

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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