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Myocardial fibrosis

MedGen UID:
56239
Concept ID:
C0151654
Pathologic Function
 
HPO: HP:0001685

Definition

Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. [from HPO]

Conditions with this feature

Congenital heart block
MedGen UID:
57432
Concept ID:
C0149530
Disease or Syndrome
Fukuyama congenital muscular dystrophy
MedGen UID:
140820
Concept ID:
C0410174
Disease or Syndrome
Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone (previously type II) lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy, with a poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech retardation, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement in individuals older than age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.
Mulibrey nanism syndrome
MedGen UID:
99347
Concept ID:
C0524582
Disease or Syndrome
Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).
Danon disease
MedGen UID:
209235
Concept ID:
C0878677
Disease or Syndrome
Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; 232300) with 'normal acid maltase' or alpha-glucosidase (GAA; 606800) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased. Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity. X-linked myopathy with excessive autophagy (XMEA; 310440) is a distinct disorder with similar pathologic features.
Sudden cardiac failure, alcohol-induced
MedGen UID:
934630
Concept ID:
C4310663
Disease or Syndrome
Sudden cardiac failure, infantile
MedGen UID:
934631
Concept ID:
C4310664
Disease or Syndrome

Recent clinical studies

Etiology

Niss O, Fleck R, Makue F, Alsaied T, Desai P, Towbin JA, Malik P, Taylor MD, Quinn CT
Blood 2017 Jul 13;130(2):205-213. Epub 2017 May 15 doi: 10.1182/blood-2017-02-767624. PMID: 28507082Free PMC Article
Bogarapu S, Puchalski MD, Everitt MD, Williams RV, Weng HY, Menon SC
Pediatr Cardiol 2016 Apr;37(4):663-73. Epub 2016 Jan 30 doi: 10.1007/s00246-015-1329-8. PMID: 26833321
Lisi M, Cameli M, Righini FM, Malandrino A, Tacchini D, Focardi M, Tsioulpas C, Bernazzali S, Tanganelli P, Maccherini M, Mondillo S, Henein MY
JACC Cardiovasc Imaging 2015 May;8(5):514-522. Epub 2015 Apr 15 doi: 10.1016/j.jcmg.2014.12.026. PMID: 25890585
Iles LM, Ellims AH, Llewellyn H, Hare JL, Kaye DM, McLean CA, Taylor AJ
Eur Heart J Cardiovasc Imaging 2015 Jan;16(1):14-22. Epub 2014 Oct 28 doi: 10.1093/ehjci/jeu182. PMID: 25354866
Petri H, Ahtarovski KA, Vejlstrup N, Vissing J, Witting N, Køber L, Bundgaard H
J Cardiovasc Magn Reson 2014 Aug 1;16:59. doi: 10.1186/s12968-014-0059-z. PMID: 25086734Free PMC Article

Diagnosis

Takawale A, Zhang P, Patel VB, Wang X, Oudit G, Kassiri Z
Hypertension 2017 Jun;69(6):1092-1103. Epub 2017 Apr 3 doi: 10.1161/HYPERTENSIONAHA.117.09045. PMID: 28373589
Gyöngyösi M, Winkler J, Ramos I, Do QT, Firat H, McDonald K, González A, Thum T, Díez J, Jaisser F, Pizard A, Zannad F
Eur J Heart Fail 2017 Feb;19(2):177-191. doi: 10.1002/ejhf.696. PMID: 28157267Free PMC Article
Diao KY, Yang ZG, Xu HY, Liu X, Zhang Q, Shi K, Jiang L, Xie LJ, Wen LY, Guo YK
J Cardiovasc Magn Reson 2016 Dec 12;18(1):92. doi: 10.1186/s12968-016-0313-7. PMID: 27955698Free PMC Article
Lisi M, Cameli M, Righini FM, Malandrino A, Tacchini D, Focardi M, Tsioulpas C, Bernazzali S, Tanganelli P, Maccherini M, Mondillo S, Henein MY
JACC Cardiovasc Imaging 2015 May;8(5):514-522. Epub 2015 Apr 15 doi: 10.1016/j.jcmg.2014.12.026. PMID: 25890585
Rodríguez-Reyna TS, Morelos-Guzman M, Hernández-Reyes P, Montero-Duarte K, Martínez-Reyes C, Reyes-Utrera C, Vazquez-La Madrid J, Morales-Blanhir J, Núñez-Álvarez C, Cabiedes-Contreras J
Rheumatology (Oxford) 2015 Apr;54(4):647-54. Epub 2014 Sep 18 doi: 10.1093/rheumatology/keu350. PMID: 25239881

Therapy

Niss O, Fleck R, Makue F, Alsaied T, Desai P, Towbin JA, Malik P, Taylor MD, Quinn CT
Blood 2017 Jul 13;130(2):205-213. Epub 2017 May 15 doi: 10.1182/blood-2017-02-767624. PMID: 28507082Free PMC Article
Takawale A, Zhang P, Patel VB, Wang X, Oudit G, Kassiri Z
Hypertension 2017 Jun;69(6):1092-1103. Epub 2017 Apr 3 doi: 10.1161/HYPERTENSIONAHA.117.09045. PMID: 28373589
Mygind ND, Michelsen MM, Pena A, Qayyum AA, Frestad D, Christensen TE, Ghotbi AA, Dose N, Faber R, Vejlstrup N, Hasbak P, Kjaer A, Prescott E, Kastrup J; steering committee of the iPower study.
J Cardiovasc Magn Reson 2016 Nov 4;18(1):76. doi: 10.1186/s12968-016-0295-5. PMID: 27809867Free PMC Article
Tandon A, Villa CR, Hor KN, Jefferies JL, Gao Z, Towbin JA, Wong BL, Mazur W, Fleck RJ, Sticka JJ, Benson DW, Taylor MD
J Am Heart Assoc 2015 Mar 26;4(4) doi: 10.1161/JAHA.114.001338. PMID: 25814625Free PMC Article
Milano AD, Faggian G, Dodonov M, Golia G, Tomezzoli A, Bortolotti U, Mazzucco A
J Thorac Cardiovasc Surg 2012 Oct;144(4):830-7. Epub 2012 Jan 12 doi: 10.1016/j.jtcvs.2011.11.024. PMID: 22244555

Prognosis

Larocca TF, Macêdo CT, Noya-Rabelo M, Lemos Correia LC, Moreira MI, Caldas AC, Torreão JA, Souza BSF, Vasconcelos JF, Carvalho da Silva AS, Ribeiro Dos Santos R, Soares MBP
PLoS One 2017;12(12):e0189408. Epub 2017 Dec 12 doi: 10.1371/journal.pone.0189408. PMID: 29232393Free PMC Article
Gyöngyösi M, Winkler J, Ramos I, Do QT, Firat H, McDonald K, González A, Thum T, Díez J, Jaisser F, Pizard A, Zannad F
Eur J Heart Fail 2017 Feb;19(2):177-191. doi: 10.1002/ejhf.696. PMID: 28157267Free PMC Article
Diao KY, Yang ZG, Xu HY, Liu X, Zhang Q, Shi K, Jiang L, Xie LJ, Wen LY, Guo YK
J Cardiovasc Magn Reson 2016 Dec 12;18(1):92. doi: 10.1186/s12968-016-0313-7. PMID: 27955698Free PMC Article
Lisi M, Cameli M, Righini FM, Malandrino A, Tacchini D, Focardi M, Tsioulpas C, Bernazzali S, Tanganelli P, Maccherini M, Mondillo S, Henein MY
JACC Cardiovasc Imaging 2015 May;8(5):514-522. Epub 2015 Apr 15 doi: 10.1016/j.jcmg.2014.12.026. PMID: 25890585
Iles LM, Ellims AH, Llewellyn H, Hare JL, Kaye DM, McLean CA, Taylor AJ
Eur Heart J Cardiovasc Imaging 2015 Jan;16(1):14-22. Epub 2014 Oct 28 doi: 10.1093/ehjci/jeu182. PMID: 25354866

Clinical prediction guides

Takawale A, Zhang P, Patel VB, Wang X, Oudit G, Kassiri Z
Hypertension 2017 Jun;69(6):1092-1103. Epub 2017 Apr 3 doi: 10.1161/HYPERTENSIONAHA.117.09045. PMID: 28373589
Diao KY, Yang ZG, Xu HY, Liu X, Zhang Q, Shi K, Jiang L, Xie LJ, Wen LY, Guo YK
J Cardiovasc Magn Reson 2016 Dec 12;18(1):92. doi: 10.1186/s12968-016-0313-7. PMID: 27955698Free PMC Article
Lisi M, Cameli M, Righini FM, Malandrino A, Tacchini D, Focardi M, Tsioulpas C, Bernazzali S, Tanganelli P, Maccherini M, Mondillo S, Henein MY
JACC Cardiovasc Imaging 2015 May;8(5):514-522. Epub 2015 Apr 15 doi: 10.1016/j.jcmg.2014.12.026. PMID: 25890585
Iles LM, Ellims AH, Llewellyn H, Hare JL, Kaye DM, McLean CA, Taylor AJ
Eur Heart J Cardiovasc Imaging 2015 Jan;16(1):14-22. Epub 2014 Oct 28 doi: 10.1093/ehjci/jeu182. PMID: 25354866
Hoffmann R, Altiok E, Friedman Z, Becker M, Frick M
Am J Cardiol 2014 Oct 1;114(7):1083-8. Epub 2014 Jul 18 doi: 10.1016/j.amjcard.2014.07.018. PMID: 25212549

Recent systematic reviews

Graham-Brown MP, Patel AS, Stensel DJ, March DS, Marsh AM, McAdam J, McCann GP, Burton JO
Biomed Res Int 2017;2017:5453606. Epub 2017 Mar 2 doi: 10.1155/2017/5453606. PMID: 28349062Free PMC Article
Diao KY, Yang ZG, Xu HY, Liu X, Zhang Q, Shi K, Jiang L, Xie LJ, Wen LY, Guo YK
J Cardiovasc Magn Reson 2016 Dec 12;18(1):92. doi: 10.1186/s12968-016-0313-7. PMID: 27955698Free PMC Article
van de Schoor FR, Aengevaeren VL, Hopman MT, Oxborough DL, George KP, Thompson PD, Eijsvogels TM
Mayo Clin Proc 2016 Nov;91(11):1617-1631. Epub 2016 Oct 6 doi: 10.1016/j.mayocp.2016.07.012. PMID: 27720455
Disertori M, Rigoni M, Pace N, Casolo G, Masè M, Gonzini L, Lucci D, Nollo G, Ravelli F
JACC Cardiovasc Imaging 2016 Sep;9(9):1046-1055. Epub 2016 Jul 20 doi: 10.1016/j.jcmg.2016.01.033. PMID: 27450871
Briasoulis A, Mallikethi-Reddy S, Palla M, Alesh I, Afonso L
Heart 2015 Sep;101(17):1406-11. Epub 2015 Jun 9 doi: 10.1136/heartjnl-2015-307682. PMID: 26060120

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