The effects of supravalvular aortic stenosis elastin gene mutation on voice production
Posted by Callier Library on January 4, 2008
from the Journal of Medical Speech-Language Pathology
Supravalvular aortic stenosis (SVAS) is an autosomal dominant disease that can occur as a part of Williams syndrome or as an isolated condition. It is caused by loss of function mutations within the elastin (ELN) gene leading to a quantitative reduction of elastic fibers due to abnormal elastogenesis. Elastic fibers are known to be present in normal vocal folds. To test the hypothesis that elastic fibers are necessary for normal physiology of the human vocal fold, we have investigated quantitative characteristics of voice production in six individuals (five adults and one child) with positive elastin mutation status compared to age and gender matched normal controls. The voice in all adult SVAS participants was characterized by a low speaking fundamental frequency and greater spectral tilt. The male SVAS participants, who manifested the greatest degree of SVAS phenotypic expression, also produced a limited physiological frequency range. We conclude that elastin haploinsufficiency uniquely influences vocal production characteristics, highlighting the role of elastin in regulating the pitch and range of human voice by contributing to specific vibrational properties of the vocal fold.
