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Cardiomyopathy and Deafness

MedGen UID:
865057
•Concept ID:
C4016620
•
Finding
Synonym: CARDIOMYOPATHY AND DEAFNESS
 
OMIM®: 590060

Professional guidelines

PubMed

Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. PMID: 32958032Free PMC Article
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R
J Neurol Neurosurg Psychiatry 2013 Aug;84(8):936-8. Epub 2013 Jan 25 doi: 10.1136/jnnp-2012-303528. PMID: 23355809
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
Harding AE
Brain 1981 Sep;104(3):589-620. doi: 10.1093/brain/104.3.589. PMID: 7272714

Recent clinical studies

Etiology

Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E
Pediatr Nephrol 2019 Aug;34(8):1375-1377. Epub 2019 Mar 12 doi: 10.1007/s00467-019-04217-7. PMID: 30863911
Nephrotic syndrome and mitochondrial disorders: Questions.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E
Pediatr Nephrol 2019 Aug;34(8):1373-1374. Epub 2019 Mar 12 doi: 10.1007/s00467-019-04216-8. PMID: 30863910
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Mitochondrial DNA and disease.
Suomalainen A
Ann Med 1997 Jun;29(3):235-46. doi: 10.3109/07853899708999341. PMID: 9240629
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

Diagnosis

Nephrotic syndrome and mitochondrial disorders: Questions.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E
Pediatr Nephrol 2019 Aug;34(8):1373-1374. Epub 2019 Mar 12 doi: 10.1007/s00467-019-04216-8. PMID: 30863910
Do you know this syndrome? Leopard syndrome.
Cançado FH, Silva LC, Taitson PF, Andrade AC, Pithon MM, Oliveira DD
An Bras Dermatol 2017 Jan-Feb;92(1):127-129. doi: 10.1590/abd1806-4841.20174505. PMID: 28225973Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
Cor leopardum.
Vaisrub S
JAMA 1972 May 29;220(9):1239. doi: 10.1001/jama.220.9.1239. PMID: 4623384

Therapy

Retinoschisis associated with Kearns-Sayre syndrome.
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Ischaemic cardiomyopathy and embolic stroke in a young adult with suspected synthetic cannabinoid use.
Khan S, Hanif A, Wilson MF
BMJ Case Rep 2018 Jun 7;2018 doi: 10.1136/bcr-2018-224755. PMID: 29880579Free PMC Article
Superficial siderosis of the central nervous system: a rare cause of dementia with therapeutic consequences.
Dubessy AL, Ursu R, Maillet D, Augier A, Le Guilloux J, Carpentier AF, Belin C
Age Ageing 2012 Mar;41(2):275-7. Epub 2012 Jan 29 doi: 10.1093/ageing/afr177. PMID: 22291165
The role of comorbidities in cardioprotection.
Sack MN, Murphy E
J Cardiovasc Pharmacol Ther 2011 Sep-Dec;16(3-4):267-72. doi: 10.1177/1074248411408313. PMID: 21821527Free PMC Article
Hereditary palmoplantar keratodermas.
Braun-Falco M
J Dtsch Dermatol Ges 2009 Nov;7(11):971-84; quiz 984-5. doi: 10.1111/j.1610-0387.2009.07058.x. PMID: 19341430

Prognosis

A Patient with Mitochondrial Disease on Dialysis with Long-term Follow-up of Cardiomyopathy: An Autopsy Case Report.
Ochiai S, Inagaki H, Hisanaga S, Tanaka H, Kikuchi M, Fujimoto S
Intern Med 2023 Oct 1;62(19):2859-2863. Epub 2023 Feb 22 doi: 10.2169/internalmedicine.0656-22. PMID: 36823092Free PMC Article
Neurological complications of cardiomyopathies.
Fonseca AC, Almeida AG, Santos MO, Ferro JM
Handb Clin Neurol 2021;177:91-109. doi: 10.1016/B978-0-12-819814-8.00001-9. PMID: 33632460
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
Mitochondrial DNA disorders.
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904

Clinical prediction guides

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G
Circ Genom Precis Med 2023 Aug;16(4):350-358. Epub 2023 May 18 doi: 10.1161/CIRCGEN.122.003861. PMID: 37199218Free PMC Article
A Patient with Mitochondrial Disease on Dialysis with Long-term Follow-up of Cardiomyopathy: An Autopsy Case Report.
Ochiai S, Inagaki H, Hisanaga S, Tanaka H, Kikuchi M, Fujimoto S
Intern Med 2023 Oct 1;62(19):2859-2863. Epub 2023 Feb 22 doi: 10.2169/internalmedicine.0656-22. PMID: 36823092Free PMC Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E
Brain 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
Makishima T, Madeo AC, Brewer CC, Zalewski CK, Butman JA, Sachdev V, Arai AE, Holbrook BM, Rosing DR, Griffith AJ
Am J Med Genet A 2007 Jul 15;143A(14):1592-8. doi: 10.1002/ajmg.a.31793. PMID: 17567890
Hypertrophic cardiomyopathy associated with congenital deaf-mutism.
Csanády M, Högye M, Forster T
Eur Heart J 1987 May;8(5):528-34. doi: 10.1093/oxfordjournals.eurheartj.a062313. PMID: 3609045

Recent systematic reviews

Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. PMID: 32958032Free PMC Article
Early (< 8 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants.
Halliday HL, Ehrenkranz RA, Doyle LW
Cochrane Database Syst Rev 2010 Jan 20;(1):CD001146. doi: 10.1002/14651858.CD001146.pub3. PMID: 20091516
Early (< 8 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants.
Halliday HL, Ehrenkranz RA, Doyle LW
Cochrane Database Syst Rev 2009 Jan 21;(1):CD001146. doi: 10.1002/14651858.CD001146.pub2. PMID: 19160190
Early postnatal (<96 hours) corticosteroids for preventing chronic lung disease in preterm infants.
Halliday HL, Ehrenkranz RA, Doyle LW
Cochrane Database Syst Rev 2003;(1):CD001146. doi: 10.1002/14651858.CD001146. PMID: 12535402
Moderately early (7-14 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants.
Halliday HL, Ehrenkranz RA, Doyle LW
Cochrane Database Syst Rev 2003;(1):CD001144. doi: 10.1002/14651858.CD001144. PMID: 12535400

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