caa a22 4500 463157982 CHVBK 20180406164739.0 cr unu---uuuuu 170326e20070601xx s 000 0 eng 10.1007/s10286-007-0421-4 doi (NATIONALLICENCE)springer-10.1007/s10286-007-0421-4 Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome [Elektronische Daten] [André Diedrich, Beth Malow, Nick Antic, Kyoko Sato, R. McEvoy, Christopher Mathias, David Robertson, Elizabeth Berry-Kravis, Debra Weese-Mayer] 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. Springer, 2007 congenital central hypoventilation syndrome nationallicence PHOX2B nationallicence autonomic nervous system nationallicence muscle nationallicence sympathetic activity nationallicence baroreflex nationallicence heart rate variability nationallicence blood pressure variability nationallicence Diedrich André Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut Malow Beth Dept. of Neurology, Vanderbilt University School of Medicine, Nashville, TN, USA aut Antic Nick Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, SA, Australia aut Sato Kyoko Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut McEvoy R. Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, SA, Australia aut Mathias Christopher Autonomic Unit, National Hospital for Neurology & Neurosurgery, London, UK aut Robertson David Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut Berry-Kravis Elizabeth Dept. of Pediatrics, Rush University Medical Center, Chicago, IL, USA aut Weese-Mayer Debra Dept. of Pediatrics, Rush University Medical Center, Chicago, IL, USA aut https://doi.org/10.1007/s10286-007-0421-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10286-007-0421-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Diedrich André Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut NATIONALLICENCE 700 1- Malow Beth Dept. of Neurology, Vanderbilt University School of Medicine, Nashville, TN, USA aut NATIONALLICENCE 700 1- Antic Nick Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, SA, Australia aut NATIONALLICENCE 700 1- Sato Kyoko Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut NATIONALLICENCE 700 1- McEvoy R. Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, SA, Australia aut NATIONALLICENCE 700 1- Mathias Christopher Autonomic Unit, National Hospital for Neurology & Neurosurgery, London, UK aut NATIONALLICENCE 700 1- Robertson David Dept. of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center Vanderbilt University School of Medicine, Nashville, TN, USA aut NATIONALLICENCE 700 1- Berry-Kravis Elizabeth Dept. of Pediatrics, Rush University Medical Center, Chicago, IL, USA aut NATIONALLICENCE 700 1- Weese-Mayer Debra Dept. of Pediatrics, Rush University Medical Center, Chicago, IL, USA aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer