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Fatal infantile mitochondrial cardiomyopathy

MedGen UID:
759356
•Concept ID:
C3532243
•
Disease or Syndrome
SNOMED CT: Fatal infantile mitochondrial cardiomyopathy (472319004)

Professional guidelines

PubMed

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M
Neuropediatrics 2003 Dec;34(6):311-7. doi: 10.1055/s-2003-44670. PMID: 14681757

Recent clinical studies

Etiology

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A
Am J Hum Genet 2011 May 13;88(5):635-42. Epub 2011 May 5 doi: 10.1016/j.ajhg.2011.04.006. PMID: 21549344Free PMC Article
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M
J Inherit Metab Dis 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. PMID: 14970747
Human cytochrome oxidase deficiency.
Robinson BH
Pediatr Res 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. PMID: 11044474
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP
Hum Mutat 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID: 10649489

Diagnosis

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
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M
J Inherit Metab Dis 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. PMID: 14970747
Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. PMID: 11579424
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.
Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S
J Pediatr 1999 Aug;135(2 Pt 1):197-202. doi: 10.1016/s0022-3476(99)70022-3. PMID: 10431114

Therapy

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C
Pediatr Nephrol 2018 Mar;33(3):439-446. Epub 2017 Oct 14 doi: 10.1007/s00467-017-3814-1. PMID: 29032433
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S315-9. Epub 2010 Jul 21 doi: 10.1007/s10545-010-9169-4. PMID: 20652410
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M
J Inherit Metab Dis 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. PMID: 14970747
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies.
Müller-Höcker J, Ibel H, Paetzke I, Deufel T, Endres W, Kadenbach B, Gokel JM, Hübner G
Virchows Arch A Pathol Anat Histopathol 1991;419(4):355-62. doi: 10.1007/BF01606527. PMID: 1659034
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.
Hoppel CL, Kerr DS, Dahms B, Roessmann U
J Clin Invest 1987 Jul;80(1):71-7. doi: 10.1172/JCI113066. PMID: 3110216Free PMC Article

Prognosis

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R
Int J Mol Sci 2024 Jul 16;25(14) doi: 10.3390/ijms25147782. PMID: 39063023Free PMC Article
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA
Hum Mutat 2013 Oct;34(10):1366-70. Epub 2013 Aug 12 doi: 10.1002/humu.22385. PMID: 23878101
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M
J Inherit Metab Dis 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. PMID: 14970747
Mitochondrial dysfunction in a case of fatal infantile cardiomyopathy.
Marin-Garcia J, Ananthakrishnan R, Carta M, Dubois R, Gu J, Goldenthal MJ
J Inherit Metab Dis 1994;17(6):756-7. doi: 10.1007/BF00712023. PMID: 7707704

Clinical prediction guides

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P
J Med Genet 2016 Feb;53(2):127-31. Epub 2015 Nov 11 doi: 10.1136/jmedgenet-2015-103361. PMID: 26561570Free PMC Article
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA
Hum Mutat 2013 Oct;34(10):1366-70. Epub 2013 Aug 12 doi: 10.1002/humu.22385. PMID: 23878101
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S
J Med Genet 2011 Oct;48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. PMID: 21931170
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA
Neuropediatrics 2001 Aug;32(4):183-90. doi: 10.1055/s-2001-17372. PMID: 11571698
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP
Hum Mutat 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID: 10649489

Recent systematic reviews

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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