• IMA sites
  • IMAJ services
  • IMA journals
  • Follow us
  • Alternate Text Alternate Text
עמוד בית
Tue, 08.10.24

Search results


December 2010
U. Nussinovitch, U. Katz, M. Nussinovitch and N. Nussinovitch

Background: Familial dysautonomia is a hereditary disease characterized by dysfunction of the sensory and autonomic nervous systems. Studies in patients with familial dysautonomia have shown that abnormal cardiac autonomic denervation might influence repolarization. Autonomic tone also affects atrial conduction parameters and P-wave dispersion, which are predictive of atrial fibrillation.

Objectives: To examine the possible association of familial dysautonomia with abnormal atrial conduction and P-wave dispersion.

Methods: The study population included 12 patients with familial dysautonomia and age and sex-matched control subjects. All participants underwent a 12-lead electrocardiogram under strict conditions. P-wave lengths and P-wave dispersion were computed from a randomly selected beat and an averaged beat using designated computer software.

Results: There were no statistically significant differences between the groups in minimal, maximal, and average P-wave duration or P-wave dispersion for a randomly selected beat. P-wave dispersion for an averaged beat was also similar. During 6 months follow-up, no supraventricular arrhythmias were documented in either group.

Conclusions: We found that patients with familial dysautonomia had P-wave dispersion parameters not significantly different from those of controls. Further research is required to clarify the effects of dysautonomia on atrial conduction in familial dysautonomia.

October 2009
U. Nussinovitch, U. Katz, M. Nussinovitch and N. Nussinovitch

Background: Familial dysautonomia is a genetic disease that affects the sensory and autonomic nervous systems with varying severity. The deep breath test is one of several measures used to assess the severity of autonomic diseases, but its value in familial dysautonomia has not yet been investigated.

Objectives: To determine the diagnostic value of the DBT[1] in patients with familial dysautonomia.

Methods: Eight patients with familial dysautonomia and eight healthy volunteers were examined by electrocardiography for 1 minute at rest and during forced deep breathing. The following values were recorded: maximum expiratory and minimum inspiratory heart rate and the difference between them (ΔE/I), standard deviation of the heart rate values, interbeat intervals, and E/I[2] ratio. Spectral power analysis of heart rate variability was also performed.

Results: The patients with familial dysautonomia showed a lesser change in heart rate in response to the change in breathing pattern than the controls. Mean values in the study group were significantly higher for minimal inspiratory heart rate and significantly lower for ΔE/I, heart rate standard deviation and E/I ratio, indicating a non-flexible heart response and abnormal parasympathetic function. These findings were supported by power spectral analysis.

Conclusions: Patients with familial dysautonomia have a significantly disturbed response to physiological stimuli. The DBT may serve as a reliable means to quantify autonomic dysfunction in this patient population.






[1] DBT = deep breathing test



[2] E/I = expiratory/inspiratory


July 2009
N. Hiller, N. Simanovsky, C. Bahagon, N. Bogot and C. Maayan

Background: Lung disease in patients with famHiat dys-autonomia is caused mainly by recurrent aspiration of gastric contents, food and liquids swallowed incorrectly.

Objective: To describe chest computed tomography findings in patients with familial dyautonomia.

Methods: A retrospective analysis of chest CT findings was performed for 34 FD patients (15 females, 19 males) with a mean age of 18± 12.8 years.

Results: The CT revealed bronchial wall thickening (in 94% of the patients), atelectasis (in 73%), ground glass opacities (in 53%), focal hyperinflation (in 44%), fibrosis (in 29%) and bronchiectasis (in 26%). The extrapulmonary abnormalities were scoliosis (79%) and esophageal dilatation (35%). Silent fractures were noted in two vertebral bodies and one rib.

Conclusions: Pulmonary changes were consistent with chronic inflammation in the bronchi and interstitial tissues. Ground  glass opacities and fibrosis support the theory that these changes could be due to gastric aspiration. Bronchiectasis is less frequent. Esophageal dilatation with fluid overflow adds to aspiration. Fractures can be asymptomaflc and are often missed.

 

September 2000
Channa Maayan, MD, Onit Sela, MD, Felicia Axelrod, MD, D'vorah Kidron, MD and Drorith Hochner-Celnikier, MD

Background: Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system.

Objective: To study the inter-relationship of autonomic and sensory dysfunction and gynecological function.

Methods: The gynecological histories of 48 women with familial dysautonomia were analyzed retrospectively. Their mean age was 22.25 years (range 12-47). Thirty-three women (65%) were available for further questioning and investigation of hormonal status.

Results: Menarche had occurred in 32 of the 48 (66.7%). Their average age of menarche was significantly delayed as compared to their unaffected mothers (15.5 vs. 13.6 years respectively, P=0.002). The most prominent finding was the very high prevalence, 81.2%, of premenstrual symptoms. Seven of 26 had premenstrual syndrome symptoms of dysautonomic crisis. Blood sex hormone levels were normal in 27 of the 33 patients studied. None reached natural menopause. One patient had adenomyosis, and another, dysgerminoma. Three patients became pregnant and delivered healthy infants.

Conclusion: Menarche is delayed in women with FD, and the physiological monthly hormonal fluctuations may disturb autonomic homeostasis sufficiently to precipitate dysautonomic crisis.

Legal Disclaimer: The information contained in this website is provided for informational purposes only, and should not be construed as legal or medical advice on any matter.
The IMA is not responsible for and expressly disclaims liability for damages of any kind arising from the use of or reliance on information contained within the site.
© All rights to information on this site are reserved and are the property of the Israeli Medical Association. Privacy policy

2 Twin Towers, 35 Jabotinsky, POB 4292, Ramat Gan 5251108 Israel