Genetic disorders with both hearing loss and cardiovascular abnormalities

John W. Belmont, William Craigen, Hugo Martinez, John Jefferies

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

There has been a growing appreciation for conditions that affect hearing and which are accompanied by significant cardiovascular disorders. In this chapter we consider several broad classes of conditions including deafness due to abnormal structural development of the inner ear, those with physiological abnormalities in the inner ear sensory apparatus, and conditions with progressive loss of function of sensory cells or middle ear functions. Because of shared developmental controls, inner ear malformations are often associated with congenital heart defects and can be part of complex syndromes that affect other organs and neurodevelopmental outcome. Physiological disorders of the hair cells can lead to hearing loss and can be associated with cardiac arrhythmias, especially long QT syndrome. In addition, cellular energy defects such as mitochondrial disorders can affect maintenance of hair cells and are often associated with cardiomyopathy. Lysosomal storage diseases and other disorders affecting connective tissue can lead to chronic middle ear disease, with conductive hearing loss and also cause cardiac valve disease and/or cardiomyopathy. The genetic basis for these conditions is heterogeneous and includes chromosomal/genomic disorders, de novo dominant mutations, and familial dominant, autosomal-recessive, and mitochondrial (matrilineal) inheritance. Taken together, there are more than 100 individual genes implicated in genetic hearing impairment that are also associated with congenital and/or progressive cardiac abnormalities. These genes encode transcription factors, chromatin remodeling factors, components of signal transduction pathways, ion channels, mitochondrial proteins and assembly factors,

Original languageEnglish (US)
Title of host publicationMedical Genetics in the Clinical Practice of ORL
Pages66-74
Number of pages9
DOIs
StatePublished - Mar 14 2011
Externally publishedYes

Publication series

NameAdvances in Oto-Rhino-Laryngology
Volume70
ISSN (Print)0065-3071

Fingerprint

Cardiovascular Abnormalities
Inborn Genetic Diseases
Inner Ear
Hearing Loss
Middle Ear
Cardiomyopathies
Chromosome Disorders
Lysosomal Storage Diseases
Conductive Hearing Loss
Ear Diseases
Long QT Syndrome
Mitochondrial Diseases
Chromatin Assembly and Disassembly
Mitochondrial Genes
Congenital Heart Defects
Mitochondrial Proteins
Heart Valves
Deafness
Ion Channels
Connective Tissue

All Science Journal Classification (ASJC) codes

  • Otorhinolaryngology

Cite this

Belmont, J. W., Craigen, W., Martinez, H., & Jefferies, J. (2011). Genetic disorders with both hearing loss and cardiovascular abnormalities. In Medical Genetics in the Clinical Practice of ORL (pp. 66-74). (Advances in Oto-Rhino-Laryngology; Vol. 70). https://doi.org/10.1159/000322474

Genetic disorders with both hearing loss and cardiovascular abnormalities. / Belmont, John W.; Craigen, William; Martinez, Hugo; Jefferies, John.

Medical Genetics in the Clinical Practice of ORL. 2011. p. 66-74 (Advances in Oto-Rhino-Laryngology; Vol. 70).

Research output: Chapter in Book/Report/Conference proceedingChapter

Belmont, JW, Craigen, W, Martinez, H & Jefferies, J 2011, Genetic disorders with both hearing loss and cardiovascular abnormalities. in Medical Genetics in the Clinical Practice of ORL. Advances in Oto-Rhino-Laryngology, vol. 70, pp. 66-74. https://doi.org/10.1159/000322474
Belmont JW, Craigen W, Martinez H, Jefferies J. Genetic disorders with both hearing loss and cardiovascular abnormalities. In Medical Genetics in the Clinical Practice of ORL. 2011. p. 66-74. (Advances in Oto-Rhino-Laryngology). https://doi.org/10.1159/000322474
Belmont, John W. ; Craigen, William ; Martinez, Hugo ; Jefferies, John. / Genetic disorders with both hearing loss and cardiovascular abnormalities. Medical Genetics in the Clinical Practice of ORL. 2011. pp. 66-74 (Advances in Oto-Rhino-Laryngology).
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