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Sensorineural deafness with hypertrophic cardiomyopathy

MedGen UID:
501673
•Concept ID:
C3501265
•
Disease or Syndrome
Synonym: Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
 
OMIM®: 600970

Recent clinical studies

Etiology

Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY.
Asquier-Khati A, Mauhin W, Michel G, Gendre A, Durant C, Lavigne C, Maillard H, Lacombe D, Willems M, Lidove O, Masseau A
Eur Arch Otorhinolaryngol 2022 Mar;279(3):1639-1644. Epub 2021 Nov 26 doi: 10.1007/s00405-021-07173-x. PMID: 34825971
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago MF, Dias F, Martins A, Rodrigues J, Reimão P, Pereira O, Simões S, Lopes E, Guimarães MJ, Sousa N, Cunha D
Mol Genet Metab 2020 Feb;129(2):150-160. Epub 2019 Jul 24 doi: 10.1016/j.ymgme.2019.07.012. PMID: 31519519
Cardiac device implantation in Fabry disease: A retrospective monocentric study.
Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L, Fain O, Zenone T, Joly D, Charron P, Ziza JM
Medicine (Baltimore) 2016 Oct;95(40):e4996. doi: 10.1097/MD.0000000000004996. PMID: 27749559Free PMC Article
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
Qiu W, Wang X, Romanov V, Hutchinson A, Lin A, Ruzanov M, Battaile KP, Pai EF, Neel BG, Chirgadze NY
BMC Struct Biol 2014 Mar 14;14:10. doi: 10.1186/1472-6807-14-10. PMID: 24628801Free 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

Diagnosis

Late-onset Fabry disease: the cardiac sequela.
Tremblay J, Kim S, Philbin E, Beers K, Lightle A, Belov D
BMJ Case Rep 2022 Jun 9;15(6) doi: 10.1136/bcr-2021-247917. PMID: 35680278Free PMC Article
COXPD9 in an individual from Puerto Rico and literature review.
Alsharhan H, Muraresku C, Ganetzky RD
Am J Med Genet A 2021 Aug;185(8):2519-2525. Epub 2021 May 19 doi: 10.1002/ajmg.a.62344. PMID: 34008913
Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing.
Dzeja P, Terzic A
Int J Mol Sci 2009 Apr 17;10(4):1729-1772. doi: 10.3390/ijms10041729. PMID: 19468337Free 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
Hearing disturbances in hypertrophic cardiomyopathy. Is the sensorineural disorder neurogenic or myogenic?
Csanády M, Tóth F, Hogye M, Vass A, Sepp R, Csanády M Jr, Czigner J, Kiss JG, Jóri J, Forster T
Int J Cardiol 2007 Mar 2;116(1):53-6. Epub 2006 Jun 30 doi: 10.1016/j.ijcard.2006.02.009. PMID: 16808984

Therapy

Late-onset Fabry disease: the cardiac sequela.
Tremblay J, Kim S, Philbin E, Beers K, Lightle A, Belov D
BMJ Case Rep 2022 Jun 9;15(6) doi: 10.1136/bcr-2021-247917. PMID: 35680278Free PMC Article

Prognosis

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago MF, Dias F, Martins A, Rodrigues J, Reimão P, Pereira O, Simões S, Lopes E, Guimarães MJ, Sousa N, Cunha D
Mol Genet Metab 2020 Feb;129(2):150-160. Epub 2019 Jul 24 doi: 10.1016/j.ymgme.2019.07.012. PMID: 31519519
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy.
Jurko T, Jurko A Jr, Krsiakova J, Jurko A, Minarik M, Mestanik M
Acta Clin Belg 2019 Apr;74(2):82-85. Epub 2018 May 2 doi: 10.1080/17843286.2018.1467531. PMID: 29717636
Cardiac device implantation in Fabry disease: A retrospective monocentric study.
Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L, Fain O, Zenone T, Joly D, Charron P, Ziza JM
Medicine (Baltimore) 2016 Oct;95(40):e4996. doi: 10.1097/MD.0000000000004996. PMID: 27749559Free PMC Article
A family with diabetes and heart failure.
Gerber B, Manser C, Wiesli P, Meier CA
BMJ Case Rep 2010 Oct 18;2010 doi: 10.1136/bcr.01.2010.2613. PMID: 22790282Free 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

Clinical prediction guides

Cardiac device implantation in Fabry disease: A retrospective monocentric study.
Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L, Fain O, Zenone T, Joly D, Charron P, Ziza JM
Medicine (Baltimore) 2016 Oct;95(40):e4996. doi: 10.1097/MD.0000000000004996. PMID: 27749559Free PMC Article
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y
Hum Mutat 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. PMID: 20052757
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B
Birth Defects Res A Clin Mol Teratol 2004 Feb;70(2):95-8. doi: 10.1002/bdra.10148. PMID: 14991917
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA
Hum Mol Genet 2003 Oct 15;12(20):2693-702. Epub 2003 Aug 19 doi: 10.1093/hmg/ddg284. PMID: 12928484
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grünfeld JP, Largilliere C, Lombes A
J Med Genet 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654. PMID: 7473662Free PMC Article

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