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Leigh syndrome with cardiomyopathy

MedGen UID:: 797898
•Concept ID:: CN205578
•: Disease or Syndrome

Synonyms:	Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency; cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency; Cardiomyopathy with myopathy due to COX deficiency; cardiomyopathy with myopathy due to COX deficiency; Leigh disease with myopathy
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019083
Orphanet:	ORPHA70474

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLeigh syndrome with cardiomyopathy

Hereditary hearing loss and deafness
- Mitochondrial disease
  - Leigh syndrome
    - Leigh syndrome with cardiomyopathy

Follow this link to review classifications for Leigh syndrome with cardiomyopathy in Orphanet.

Professional guidelines

PubMed

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N
J Med Genet 2018 Jan;55(1):21-27. Epub 2017 Nov 3 doi: 10.1136/jmedgenet-2017-104891. PMID: 29101127

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA
J Inherit Metab Dis 2012 Sep;35(5):737-47. Epub 2012 May 30 doi: 10.1007/s10545-012-9492-z. PMID: 22644603 Free PMC Article

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

See all (4)

Recent clinical studies

Etiology

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium
BMJ 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400 Free 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

Global, regional, and national age-sex specific mortality for 264 causes of death, 1980-2016: a systematic analysis for the Global Burden of Disease Study 2016.

GBD 2016 Causes of Death Collaborators
Lancet 2017 Sep 16;390(10100):1151-1210. doi: 10.1016/S0140-6736(17)32152-9. PMID: 28919116 Free PMC Article

Neuroimaging of mitochondrial disease.

Saneto RP, Friedman SD, Shaw DW
Mitochondrion 2008 Dec;8(5-6):396-413. Epub 2008 May 23 doi: 10.1016/j.mito.2008.05.003. PMID: 18590986 Free PMC Article

Maternal inheritance and the evaluation of oxidative phosphorylation diseases.

Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

See all (40)

Diagnosis

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O, Lesurf R; Genomics England Research Consortium, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S
J Cardiovasc Transl Res 2023 Dec;16(6):1287-1302. Epub 2023 Jul 21 doi: 10.1007/s12265-023-10411-8. PMID: 37477868 Free PMC Article

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Mitochondrial disorders.

Edmond JC
Int Ophthalmol Clin 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. PMID: 19584620

Maternal inheritance and the evaluation of oxidative phosphorylation diseases.

Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

The hereditary ataxias.

Skre H, Haugstad TS, Berg K
Prog Med Genet 1985;6:123-240. PMID: 2425393

See all (67)

Therapy

A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report.

Preusse M, Paraschaki G, Lutz S
Neuropediatrics 2022 Jun;53(3):213-216. Epub 2022 Jan 28 doi: 10.1055/s-0042-1742305. PMID: 35098523

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R
Mol Genet Metab 2021 Feb;132(2):146-153. Epub 2021 Jan 14 doi: 10.1016/j.ymgme.2021.01.005. PMID: 33485800 Free PMC Article

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M
Biochim Biophys Acta 2010 Mar;1800(3):313-5. Epub 2009 Jul 17 doi: 10.1016/j.bbagen.2009.07.008. PMID: 19616603

Leigh syndrome: anesthetic management in complicated endoscopic procedures.

Gozal D, Goldin E, Shafran-Tikva S, Tal D, Wengrower D
Paediatr Anaesth 2006 Jan;16(1):38-42. doi: 10.1111/j.1460-9592.2005.01678.x. PMID: 16409527

See all (6)

Prognosis

Age and Sex Differences in the Genetics of Cardiomyopathy.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Gene of the month: SDH.

Aldera AP, Govender D
J Clin Pathol 2018 Feb;71(2):95-97. Epub 2017 Oct 25 doi: 10.1136/jclinpath-2017-204677. PMID: 29070651

Global, regional, and national age-sex specific mortality for 264 causes of death, 1980-2016: a systematic analysis for the Global Burden of Disease Study 2016.

GBD 2016 Causes of Death Collaborators
Lancet 2017 Sep 16;390(10100):1151-1210. doi: 10.1016/S0140-6736(17)32152-9. PMID: 28919116 Free PMC Article

The hereditary ataxias.

Skre H, Haugstad TS, Berg K
Prog Med Genet 1985;6:123-240. PMID: 2425393

See all (41)

Clinical prediction guides

Age and Sex Differences in the Genetics of Cardiomyopathy.

Metabolic rescue ameliorates mitochondrial encephalo-cardiomyopathy in murine and human iPSC models of Leigh syndrome.

Yoon JY, Daneshgar N, Chu Y, Chen B, Hefti M, Vikram A, Irani K, Song LS, Brenner C, Abel ED, London B, Dai DF
Clin Transl Med 2022 Jul;12(7):e954. doi: 10.1002/ctm2.954. PMID: 35872650 Free PMC Article

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K
Mitochondrion 2022 Mar;63:1-8. Epub 2021 Dec 18 doi: 10.1016/j.mito.2021.12.005. PMID: 34933128

Global, regional, and national age-sex specific mortality for 264 causes of death, 1980-2016: a systematic analysis for the Global Burden of Disease Study 2016.

GBD 2016 Causes of Death Collaborators
Lancet 2017 Sep 16;390(10100):1151-1210. doi: 10.1016/S0140-6736(17)32152-9. PMID: 28919116 Free PMC Article

Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy.

Rutledge JC, Haas JE, Monnat R, Milstein JM
J Pediatr 1982 Nov;101(5):706-10. doi: 10.1016/s0022-3476(82)80295-3. PMID: 6890100

See all (38)