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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeigh 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: 22644603Free 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

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: 34732400Free 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: 28919116Free PMC Article
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015
Human cytochrome oxidase deficiency.
Robinson BH
Pediatr Res 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. PMID: 11044474

Diagnosis

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: 34732400Free PMC Article
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.
Mkaouar-Rebai E, Chamkha I, Mezghani N, Ben Ayed I, Fakhfakh F
Mitochondrial DNA 2013 Jun;24(3):163-78. Epub 2013 Jan 9 doi: 10.3109/19401736.2012.748045. PMID: 23301511
Mitochondrial disorders.
Edmond JC
Int Ophthalmol Clin 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. PMID: 19584620
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015
Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. PMID: 11579424

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.
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: 34732400Free PMC Article
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: 33485800Free 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

Prognosis

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: 34732400Free PMC Article
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: 28919116Free PMC Article
Leigh syndrome: clinical and neuroimaging follow-up.
Lee HF, Tsai CR, Chi CS, Lee HJ, Chen CC
Pediatr Neurol 2009 Feb;40(2):88-93. doi: 10.1016/j.pediatrneurol.2008.09.020. PMID: 19135620
Mitochondrial DNA disorders.
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904

Clinical prediction guides

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: 35872650Free 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
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K
Arch Dis Child Fetal Neonatal Ed 2022 May;107(3):329-334. Epub 2021 Oct 7 doi: 10.1136/archdischild-2021-321633. PMID: 34625524Free PMC Article
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: 28919116Free PMC Article
Leigh syndrome: clinical and neuroimaging follow-up.
Lee HF, Tsai CR, Chi CS, Lee HJ, Chen CC
Pediatr Neurol 2009 Feb;40(2):88-93. doi: 10.1016/j.pediatrneurol.2008.09.020. PMID: 19135620

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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