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Mitochondrial disease with hypertrophic cardiomyopathy

MedGen UID:
1842722
•Concept ID:
C5680879
•
Disease or Syndrome
Orphanet: ORPHA217587

Professional guidelines

PubMed

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia.
Monda E, Lioncino M, Rubino M, Passantino S, Verrillo F, Caiazza M, Cirillo A, Fusco A, Di Fraia F, Fimiani F, Amodio F, Borrelli N, Mauriello A, Natale F, Scarano G, Girolami F, Favilli S, Limongelli G
Heart Fail Clin 2022 Jan;18(1):31-37. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.001. PMID: 34776081
Advances in Diagnosis and Management of Mitochondrial Cardiomyopathy.
Zhuge R, Zhou R, Ni X
Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2017 Apr 20;39(2):290-295. doi: 10.3881/j.issn.1000-503X.2017.02.021. PMID: 28483032
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent clinical studies

Etiology

Disease features and management of cardiomyopathies in women.
Aimo A, Morfino P, Arzilli C, Vergaro G, Spini V, Fabiani I, Castiglione V, Rapezzi C, Emdin M
Heart Fail Rev 2024 May;29(3):663-674. Epub 2024 Feb 3 doi: 10.1007/s10741-024-10386-x. PMID: 38308002Free PMC Article
The heart in m.3243A>G carriers.
Finsterer J, Zarrouk-Mahjoub S
Herz 2020 Jun;45(4):356-361. Epub 2018 Aug 20 doi: 10.1007/s00059-018-4739-6. PMID: 30128910
Molecular mechanisms in cardiomyopathy.
Dadson K, Hauck L, Billia F
Clin Sci (Lond) 2017 Jul 1;131(13):1375-1392. doi: 10.1042/CS20160170. PMID: 28645928
Genetic determinants of myocardial dysfunction.
Li X, Zhang P
J Med Genet 2017 Jan;54(1):1-10. Epub 2016 Nov 21 doi: 10.1136/jmedgenet-2016-104308. PMID: 27872154
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Diagnosis

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Li B, Liu F, Chen X, Chen T, Zhang J, Liu Y, Yao Y, Hu W, Zhang M, Wang B, Liu L, Chen K, Wu Y
Circulation 2024 Apr 16;149(16):1268-1284. Epub 2024 Feb 16 doi: 10.1161/CIRCULATIONAHA.123.064489. PMID: 38362779Free PMC Article
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free PMC Article
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article
Barth syndrome.
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG
Orphanet J Rare Dis 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. PMID: 23398819Free PMC Article

Therapy

Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia.
Pilotto F, Chellapandi DM, Puccio H
Trends Mol Med 2024 Feb;30(2):117-125. Epub 2024 Jan 24 doi: 10.1016/j.molmed.2023.12.002. PMID: 38272714
Designing phase II clinical trials in Friedreich ataxia.
Rodden LN, Lynch DR
Expert Opin Emerg Drugs 2021 Dec;26(4):415-423. Epub 2021 Dec 22 doi: 10.1080/14728214.2021.1998452. PMID: 34693848
Doxorubicin-induced chronic dilated cardiomyopathy-the apoptosis hypothesis revisited.
Kankeu C, Clarke K, Passante E, Huber HJ
J Mol Med (Berl) 2017 Mar;95(3):239-248. Epub 2016 Dec 8 doi: 10.1007/s00109-016-1494-0. PMID: 27933370
Antifungal-Associated Drug-Induced Cardiac Disease.
Cleary JD, Stover KR
Clin Infect Dis 2015 Dec 1;61 Suppl 6:S662-8. doi: 10.1093/cid/civ739. PMID: 26567285
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Perdomini M, Belbellaa B, Monassier L, Reutenauer L, Messaddeq N, Cartier N, Crystal RG, Aubourg P, Puccio H
Nat Med 2014 May;20(5):542-7. Epub 2014 Apr 6 doi: 10.1038/nm.3510. PMID: 24705334

Prognosis

Disease features and management of cardiomyopathies in women.
Aimo A, Morfino P, Arzilli C, Vergaro G, Spini V, Fabiani I, Castiglione V, Rapezzi C, Emdin M
Heart Fail Rev 2024 May;29(3):663-674. Epub 2024 Feb 3 doi: 10.1007/s10741-024-10386-x. PMID: 38308002Free PMC Article
Roles of the crucial mitochondrial DNA in hypertrophic cardiomyopathy prognosis and diagnosis: A review.
Liao X, Zhou S, Zeng D, Ying W, Lian D, Zhang M, Ge J, Chen M, Liu Y, Lin Y
Medicine (Baltimore) 2023 Dec 1;102(48):e36368. doi: 10.1097/MD.0000000000036368. PMID: 38050313Free PMC Article
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Genetic determinants of myocardial dysfunction.
Li X, Zhang P
J Med Genet 2017 Jan;54(1):1-10. Epub 2016 Nov 21 doi: 10.1136/jmedgenet-2016-104308. PMID: 27872154
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Clinical prediction guides

Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.
Lioncino M, Monda E, Caiazza M, Fusco A, Cirillo A, Dongiglio F, Simonelli V, Sampaolo S, Ruggiero L, Scarano G, Pota V, Frisso G, Mazzaccara C, D'Amati G, Nigro G, Russo MG, Wahbi K, Limongelli G
Heart Fail Clin 2022 Jan;18(1):51-60. Epub 2021 Oct 26 doi: 10.1016/j.hfc.2021.07.003. PMID: 34776083
Impaired calcium handling and mitochondrial metabolic dysfunction as early markers of hypertrophic cardiomyopathy.
Viola HM, Hool LC
Arch Biochem Biophys 2019 Apr 15;665:166-174. Epub 2019 Mar 16 doi: 10.1016/j.abb.2019.03.006. PMID: 30885674
Doxorubicin-induced chronic dilated cardiomyopathy-the apoptosis hypothesis revisited.
Kankeu C, Clarke K, Passante E, Huber HJ
J Mol Med (Berl) 2017 Mar;95(3):239-248. Epub 2016 Dec 8 doi: 10.1007/s00109-016-1494-0. PMID: 27933370
Mitochondrial DNA variations associated with hypertrophic cardiomyopathy.
Govindaraj P, Khan NA, Rani B, Rani DS, Selvaraj P, Jyothi V, Bahl A, Narasimhan C, Rakshak D, Premkumar K, Khullar M, Thangaraj K
Mitochondrion 2014 May;16:65-72. Epub 2013 Nov 9 doi: 10.1016/j.mito.2013.10.006. PMID: 24215792
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent systematic reviews

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

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