U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

MedGen UID:
930500
•Concept ID:
C4304831
•
Disease or Syndrome
Synonym: Deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22
SNOMED CT: Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (719272007); Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome (719272007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016424
Orphanet: ORPHA228012

Definition

An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome.
Kornblum C, Broicher R, Walther E, Herberhold S, Klockgether T, Herberhold C, Schröder R
J Neurol 2005 Sep;252(9):1101-7. Epub 2005 Apr 15 doi: 10.1007/s00415-005-0827-7. PMID: 15827867
A review of cochlear implantation in mitochondrial sensorineural hearing loss.
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. doi: 10.1097/00129492-200305000-00012. PMID: 12806294
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies.
Zwirner P, Wilichowski E
Laryngoscope 2001 Mar;111(3):515-21. doi: 10.1097/00005537-200103000-00024. PMID: 11224785
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.
Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C, Stäcker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE
Circulation 2000 Apr 18;101(15):1812-8. doi: 10.1161/01.cir.101.15.1812. PMID: 10769282

Diagnosis

Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.
Menon D, Nair SS, Radhakrishnan N, Saraf UU, Nair M
Neurol India 2023 Nov-Dec;71(6):1192-1196. doi: 10.4103/0028-3886.391399. PMID: 38174457
Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.
Crundwell G, Kullar P, Bance M
J Int Adv Otol 2022 Jan;18(1):71-73. doi: 10.5152/iao.2022.21316. PMID: 35193849Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
A review of cochlear implantation in mitochondrial sensorineural hearing loss.
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. doi: 10.1097/00129492-200305000-00012. PMID: 12806294
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies.
Zwirner P, Wilichowski E
Laryngoscope 2001 Mar;111(3):515-21. doi: 10.1097/00005537-200103000-00024. PMID: 11224785

Therapy

A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.
De Block CE, De Leeuw IH, Maassen JA, Ballaux D, Martin JJ
Exp Clin Endocrinol Diabetes 2004 Feb;112(2):80-3. doi: 10.1055/s-2004-815754. PMID: 15031771

Prognosis

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Takeno S, Moteki H, Nishio SY, Usami SI, Nagano Y, Yoshimura A, Yoshikawa K, Kato M, Ichimoto M, Watanabe R
Otol Neurotol 2021 Aug 1;42(7):e866-e874. doi: 10.1097/MAO.0000000000003169. PMID: 33859130
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP
Ear Hear 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217. PMID: 26331839
A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.
Tzoufi M, Makis A, Chaliasos N, Nakou I, Siomou E, Tsatsoulis A, Zikou A, Argyropoulou M, Bonnefont JP, Siamopoulou A
Eur J Pediatr 2013 Apr;172(4):557-61. Epub 2012 Aug 9 doi: 10.1007/s00431-012-1798-1. PMID: 22875312
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies.
Zwirner P, Wilichowski E
Laryngoscope 2001 Mar;111(3):515-21. doi: 10.1097/00005537-200103000-00024. PMID: 11224785

Clinical prediction guides

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Takeno S, Moteki H, Nishio SY, Usami SI, Nagano Y, Yoshimura A, Yoshikawa K, Kato M, Ichimoto M, Watanabe R
Otol Neurotol 2021 Aug 1;42(7):e866-e874. doi: 10.1097/MAO.0000000000003169. PMID: 33859130
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP
Ear Hear 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217. PMID: 26331839
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies.
Zwirner P, Wilichowski E
Laryngoscope 2001 Mar;111(3):515-21. doi: 10.1097/00005537-200103000-00024. PMID: 11224785
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.
Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C, Stäcker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE
Circulation 2000 Apr 18;101(15):1812-8. doi: 10.1161/01.cir.101.15.1812. PMID: 10769282
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM
Am J Med Genet 1997 Dec 12;73(2):150-61. doi: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y. PMID: 9409865

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...