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Cardiomyopathy, idiopathic dilated, mitochondrial

MedGen UID:
865047
•Concept ID:
C4016610
•
Finding
Synonym: CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
 
OMIM®: 590040

Professional guidelines

PubMed

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
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

COX5A Alleviates Doxorubicin-Induced Cardiotoxicity by Suppressing Oxidative Stress, Mitochondrial Dysfunction and Cardiomyocyte Apoptosis.
Zhang P, Lu H, Wu Y, Lu D, Li C, Yang X, Chen Z, Qian J, Ge J
Int J Mol Sci 2023 Jun 20;24(12) doi: 10.3390/ijms241210400. PMID: 37373547Free PMC Article
Mitochondrial Sirtuin-3 (SIRT3) Prevents Doxorubicin-Induced Dilated Cardiomyopathy by Modulating Protein Acetylation and Oxidative Stress.
Tomczyk MM, Cheung KG, Xiang B, Tamanna N, Fonseca Teixeira AL, Agarwal P, Kereliuk SM, Spicer V, Lin L, Treberg J, Tong Q, Dolinsky VW
Circ Heart Fail 2022 May;15(5):e008547. Epub 2022 Apr 14 doi: 10.1161/CIRCHEARTFAILURE.121.008547. PMID: 35418250Free PMC Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Left ventricular non-compaction cardiomyopathy.
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
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

Ubiquitin Ligase RBX2/SAG Regulates Mitochondrial Ubiquitination and Mitophagy.
Wang W, Li E, Zou J, Qu C, Ayala J, Wen Y, Islam MS, Weintraub NL, Fulton DJR, Liang Q, Zhou J, Liu J, Li J, Sun Y, Su H
Circ Res 2024 Jul 19;135(3):e39-e56. Epub 2024 Jun 14 doi: 10.1161/CIRCRESAHA.124.324285. PMID: 38873758Free 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
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Left ventricular non-compaction cardiomyopathy.
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
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

Therapy

Alcoholic cardiomyopathy: an update.
Domínguez F, Adler E, García-Pavía P
Eur Heart J 2024 Jul 9;45(26):2294-2305. doi: 10.1093/eurheartj/ehae362. PMID: 38848133Free PMC Article
Mitochondrial Sirtuin-3 (SIRT3) Prevents Doxorubicin-Induced Dilated Cardiomyopathy by Modulating Protein Acetylation and Oxidative Stress.
Tomczyk MM, Cheung KG, Xiang B, Tamanna N, Fonseca Teixeira AL, Agarwal P, Kereliuk SM, Spicer V, Lin L, Treberg J, Tong Q, Dolinsky VW
Circ Heart Fail 2022 May;15(5):e008547. Epub 2022 Apr 14 doi: 10.1161/CIRCHEARTFAILURE.121.008547. PMID: 35418250Free PMC Article
Excessive O-GlcNAcylation Causes Heart Failure and Sudden Death.
Umapathi P, Mesubi OO, Banerjee PS, Abrol N, Wang Q, Luczak ED, Wu Y, Granger JM, Wei AC, Reyes Gaido OE, Florea L, Talbot CC Jr, Hart GW, Zachara NE, Anderson ME
Circulation 2021 Apr 27;143(17):1687-1703. Epub 2021 Feb 17 doi: 10.1161/CIRCULATIONAHA.120.051911. PMID: 33593071Free PMC Article
Left ventricular non-compaction cardiomyopathy.
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Statins stimulate atherosclerosis and heart failure: pharmacological mechanisms.
Okuyama H, Langsjoen PH, Hamazaki T, Ogushi Y, Hama R, Kobayashi T, Uchino H
Expert Rev Clin Pharmacol 2015 Mar;8(2):189-99. Epub 2015 Feb 6 doi: 10.1586/17512433.2015.1011125. PMID: 25655639

Prognosis

Alcoholic cardiomyopathy: an update.
Domínguez F, Adler E, García-Pavía P
Eur Heart J 2024 Jul 9;45(26):2294-2305. doi: 10.1093/eurheartj/ehae362. PMID: 38848133Free 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
The Translational Landscape of the Human Heart.
van Heesch S, Witte F, Schneider-Lunitz V, Schulz JF, Adami E, Faber AB, Kirchner M, Maatz H, Blachut S, Sandmann CL, Kanda M, Worth CL, Schafer S, Calviello L, Merriott R, Patone G, Hummel O, Wyler E, Obermayer B, Mücke MB, Lindberg EL, Trnka F, Memczak S, Schilling M, Felkin LE, Barton PJR, Quaife NM, Vanezis K, Diecke S, Mukai M, Mah N, Oh SJ, Kurtz A, Schramm C, Schwinge D, Sebode M, Harakalova M, Asselbergs FW, Vink A, de Weger RA, Viswanathan S, Widjaja AA, Gärtner-Rommel A, Milting H, Dos Remedios C, Knosalla C, Mertins P, Landthaler M, Vingron M, Linke WA, Seidman JG, Seidman CE, Rajewsky N, Ohler U, Cook SA, Hubner N
Cell 2019 Jun 27;178(1):242-260.e29. Epub 2019 May 30 doi: 10.1016/j.cell.2019.05.010. PMID: 31155234
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free 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

Clinical prediction guides

FAM210A regulates mitochondrial translation and maintains cardiac mitochondrial homeostasis.
Wu J, Subbaiah KCV, Hedaya O, Chen S, Munger J, Tang WHW, Yan C, Yao P
Cardiovasc Res 2023 Nov 15;119(14):2441-2457. doi: 10.1093/cvr/cvad124. PMID: 37522353Free PMC Article
The Translational Landscape of the Human Heart.
van Heesch S, Witte F, Schneider-Lunitz V, Schulz JF, Adami E, Faber AB, Kirchner M, Maatz H, Blachut S, Sandmann CL, Kanda M, Worth CL, Schafer S, Calviello L, Merriott R, Patone G, Hummel O, Wyler E, Obermayer B, Mücke MB, Lindberg EL, Trnka F, Memczak S, Schilling M, Felkin LE, Barton PJR, Quaife NM, Vanezis K, Diecke S, Mukai M, Mah N, Oh SJ, Kurtz A, Schramm C, Schwinge D, Sebode M, Harakalova M, Asselbergs FW, Vink A, de Weger RA, Viswanathan S, Widjaja AA, Gärtner-Rommel A, Milting H, Dos Remedios C, Knosalla C, Mertins P, Landthaler M, Vingron M, Linke WA, Seidman JG, Seidman CE, Rajewsky N, Ohler U, Cook SA, Hubner N
Cell 2019 Jun 27;178(1):242-260.e29. Epub 2019 May 30 doi: 10.1016/j.cell.2019.05.010. PMID: 31155234
Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
Peña-Peña ML, Monserrat L
Rev Esp Cardiol (Engl Ed) 2019 Apr;72(4):333-340. Epub 2019 Feb 18 doi: 10.1016/j.rec.2018.10.017. PMID: 30792015
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free 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

Recent systematic reviews

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI, Moesker J, Heijsman D, Boersma E, Majoor-Krakauer D
J Am Heart Assoc 2019 Dec 3;8(23):e012993. Epub 2019 Nov 27 doi: 10.1161/JAHA.119.012993. PMID: 31771441Free PMC Article
Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
Peña-Peña ML, Monserrat L
Rev Esp Cardiol (Engl Ed) 2019 Apr;72(4):333-340. Epub 2019 Feb 18 doi: 10.1016/j.rec.2018.10.017. PMID: 30792015

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