Cover

Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford R.L. (Houston, Tex.) 
Sutton V.R. (Houston, Tex.) 
Table of Contents
Vol. 70, 2011
Section title: Paper
Alford RL, Sutton VR (eds): Medical Genetics in the Clinical Practice of ORL. Adv Otorhinolaryngol. Basel, Karger, 2011, vol 70, pp 66–74
(DOI:10.1159/000322474)

Genetic Disorders with both Hearing Loss and Cardiovascular Abnormalities

Belmont J.W. · Craigen W.J. · Martinez H. · Jefferies J.L.
Departments of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, Houston, Tex., USA

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 0

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)

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,


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 0

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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