期刊
CLINICAL AUTONOMIC RESEARCH
卷 17, 期 3, 页码 177-185出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s10286-007-0421-4
关键词
congenital central hypoventilation syndrome; PHOX2B; autonomic nervous system; muscle; sympathetic activity; baroreflex; heart rate variability; blood pressure variability
资金
- NCRR NIH HHS [M01 RR00095] Funding Source: Medline
- NHLBI NIH HHS [R01 HL71784, 1P01 HL56693] Funding Source: Medline
- NIA NIH HHS [R41 AG19576-01A1] Funding Source: Medline
Background Children with Congenital Central Hypoventilation Syndrome (CCHS) typically present as newborns with alveolar hypoventilation. With the advent of genetic testing, parents of affected children and other unrelated adults, all heterozygous for the disease-defining PHOX2B polyalanine expansion mutation with the 20/25 genotype, are being identified in adulthood. Though children with PHOX2B mutation-confirmed CCHS demonstrate ANS dysregulation, including altered heart rate and blood pressure control, it is unknown if adults with CCHS have similarly affected autonomic function in blood pressure control. Methods and Results An autonomic profile of blood pressure control has been studied with recording of muscle sympathetic activity and spectral analysis of heart rate and blood pressure variability of one adult patient with alveolar hypoventilation and the 20/25 PHOX2B genotype. All parameters of heart rate variability were reduced. Cardiac baroreflex sensitivity was decreased. Sympathetic responses to Valsalva maneuver, hypoxemia, isometric exercise and cold pressor were blunted. Conclusion In summary, we found a reduced cardiac baroreflex and a blunted sympathetic mediated response in the individual with adult-onset CCHS, possibly due to dysfunction in the afferent pathway. Our results confirm that PHOX2B affects the development of the autonomic nervous system, possibly causing absence of normal maturation of carotid body and visceral sensory ganglia and leading to autonomic dysfunction in adult-onset CCHS.
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