title: Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.
abstract: OBJECTIVE
  Patients with familial dysautonomia have an increased risk of sudden death. In some patients with familial dysautonomia, sympathetic cardiac dysfunction is indicated by prolongation of corrected QT (QTc) interval, especially during stress tests. As many patients do not tolerate physical stress, additional indices are needed to predict autonomic risk. In familial dysautonomia there is a reduction of both sympathetic neurons and peripheral small nerve fibres which mediate temperature perception. Consequently, quantitative thermal perception test results might correlate with QTc values. If this assumption is correct, quantitative thermotesting could contribute to predicting increased autonomic risk.
  
  
  METHODS
  To test this hypothesis, QTc intervals were determined in 12 male and eight female patients with familial dysautonomia, aged 10 to 41 years (mean 21.7 (SD 10.1) years), in supine and erect positions and postexercise and correlated with warm and cold perception thresholds assessed at six body sites using a Thermotest.
  
  
  RESULTS
  Due to orthostatic presyncope, six patients were unable to undergo erect and postexercise QTc interval assessment. The QTc interval was prolonged (>440 ms) in two patients when supine and in two additional patients when erect and postexercise. Supine QTc intervals correlated significantly with thermal threshold values at the six body sites and with the number of sites with abnormal thermal perception (Spearman's rank correlation p<0.05). Abnormal Thermotest results were more frequent in the four patients with QTc prolongation and the six patients with intolerance to stress tests.
  
  
  CONCLUSIONS
  The results suggest that impaired thermal perception correlates with cardiac sympathetic dysfunction in patients with familial dysautonomia. Thus thermotesting may provide an alternative, albeit indirect, means of assessing sympathetic dysfunction in autonomic disorders.
authors.affiliation: Department of Neurology, New York University Medical Center, NY 10016, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Hilz
authors.forename: E H
authors.initials: EH
authors.lastname: Kolodny
authors.forename: I
authors.initials: I
authors.lastname: Neuner
authors.forename: B
authors.initials: B
authors.lastname: Stemper
authors.forename: F B
authors.initials: FB
authors.lastname: Axelrod
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000517:prevention & control; D004402:Dysautonomia, Familial / Q000175:diagnosis* / Q000503:physiopathology; D004562:Electrocardiography; D005080:Exercise Test; D005260:Female; D005500:Follow-Up Studies; D006321:Heart / Q000294:innervation*; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D009460:Neurologic Examination; D012016:Reference Values; D012307:Risk Factors; D012680:Sensitivity and Specificity; D012684:Sensory Thresholds / Q000502:physiology; D013564:Sympathetic Nervous System / Q000503:physiopathology*; D013697:Thermosensing / Q000502:physiology*