A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome

1. Sinnecker T, Andelova M, Mayr M, Rüegg S, Sinnreich M, Hench J, et al. Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. BMC Neurology. 2019;19(1):91. Sinnecker T Andelova M Mayr M Rüegg S Sinnreich M Hench J . Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report . BMC Neurology . 2019 ; 19 ( 1 ): 91 . Search in Google Scholar

2. Fayssoil A. Heart Diseases in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke Syndrome. Congestive Heart Failure. 2009;15(6):284-7. Fayssoil A. Heart Diseases in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke Syndrome . Congestive Heart Failure . 2009 ; 15 ( 6 ): 284 - 7 . Search in Google Scholar

3. Yee ML, Wong R, Datta M, Fazlo TN, Ebrahim MM, McNamara EC, et al. Mitochondrial disease: an uncommon but important cause of diabetes mellitus. Endocrinol Diabetes Metab Case Rep. 2018;2018. Yee ML Wong R Datta M Fazlo TN Ebrahim MM McNamara EC . Mitochondrial disease: an uncommon but important cause of diabetes mellitus . Endocrinol Diabetes Metab Case Rep . 2018 ; 2018 . Search in Google Scholar

4. Scholle LM, Zierz S, Mawrin C, Wickenhauser C, Urban DL. Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis. Genes (Basel). 2020;11(2). Scholle LM Zierz S Mawrin C Wickenhauser C Urban DL. Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis . Genes (Basel) . 2020 ; 11 ( 2 ). Search in Google Scholar

5. Seed LM, Dean A, Krishnakumar D, Phyu P, Horvath R, Harijan PD. Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature. Molecular Genetics & Genomic Medicine. 2022;10(7):e1955. Seed LM Dean A Krishnakumar D Phyu P Horvath R Harijan PD. Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature . Molecular Genetics & Genomic Medicine . 2022 ; 10 ( 7 ): e1955 . Search in Google Scholar

6. Lee MH, Sung YJ, Yoon JH, Kim J, Oh IY, Choi EK, et al. Wolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. Korean Circ J. 2011;41(11):674-6. Lee MH Sung YJ Yoon JH Kim J Oh IY Choi EK . Wolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome . Korean Circ J . 2011 ; 41 ( 11 ): 674 - 6 . Search in Google Scholar

7. Brandão M, Bariani R, Rigato I, Bauce B. Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity. J Clin Med. 2023;12(7). Brandão M Bariani R Rigato I Bauce B. Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity . J Clin Med . 2023 ; 12 ( 7 ). Search in Google Scholar

8. Florian A, Ludwig A, Stubbe-Dräger B, Boentert M, Young P, Waltenberger J, et al. Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy. J Cardiovasc Magn Reson. 2015;17(1):40. Florian A Ludwig A Stubbe-Dräger B Boentert M Young P Waltenberger J . Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy . J Cardiovasc Magn Reson . 2015 ; 17 ( 1 ): 40 . Search in Google Scholar

9. Argudo JM, Astudillo Moncayo OM, Insuasti W, Garofalo G, Aguirre AS, Encalada S, et al. Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review. Cureus. 2022;14(12):e32709. Argudo JM Astudillo Moncayo OM Insuasti W Garofalo G Aguirre AS Encalada S . Arginine for the Treatment of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Systematic Review . Cureus . 2022 ; 14 ( 12 ): e32709 . Search in Google Scholar

10. Orsucci D, Ienco EC, Siciliano G, Mancuso M. Mitochondrial disorders and drugs: what every physician should know. Drugs Context. 2019;8:212588. Orsucci D Ienco EC Siciliano G Mancuso M. Mitochondrial disorders and drugs: what every physician should know . Drugs Context . 2019 ; 8 : 212588 . Search in Google Scholar

11. McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Böhm M, et al. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) With the special contribution of the Heart Failure Association (HFA) of the ESC. European Heart Journal. 2021;42(36):3599-726. McDonagh TA Metra M Adamo M Gardner RS Baumbach A Böhm M . 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) With the special contribution of the Heart Failure Association (HFA) of the ESC . European Heart Journal . 2021 ; 42 ( 36 ): 3599 - 726 . Search in Google Scholar

12. Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, et al. Clinical profile and outcome of cardiac involvement in MELAS syndrome. International Journal of Cardiology. 2019;276:14-9. Brambilla A Favilli S Olivotto I Calabri GB Porcedda G De Simone L . Clinical profile and outcome of cardiac involvement in MELAS syndrome . International Journal of Cardiology . 2019 ; 276 : 14 - 9 . Search in Google Scholar

13. Bhati RS, Sheridan BC, Mill MR, Selzman CH. Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome. J Heart Lung Transplant. 2005;24(12):2286-9. Bhati RS Sheridan BC Mill MR Selzman CH. Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome . J Heart Lung Transplant . 2005 ; 24 ( 12 ): 2286 - 9 . Search in Google Scholar