Familial dysautonomia: A prospective study of survival

Axelrod, Felicia B.; Abularrage, Joseph J.

doi:10.1016/s0022-3476(82)80130-3

Cited by 72 publications

(22 citation statements)

References 7 publications

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“…In addition, sympathovagal balance becomes more precarious with worsening of orthostatic hypotension, development of supine hypertension, and even occasional bradyarrhythmias [43]. There is a high mortality rate [26,44]. The extensive neuropathologic abnormalities provide explanation for many of the clinical features of FD but are not appropriate for staging or assessment of severity or rate of progression.…”

Section: Discussionmentioning

confidence: 99%

Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia

Hilz

Axelrod

2000

Clinical Autonomic Research

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Familial dysautonomia (FD) is an inherited disorder that is known to affect both sensory and autonomic functions as a result of incomplete neuronal development and progressive loss but the degree to which patients are affected differs greatly. To determine if quantitative vibration and thermal testing refined the assessment of severity, 23 familial dysautonomia patients were evaluated by clinical examination, measurements of median, peroneal and sural nerve conduction velocities (NCV), and assessment of vibration thresholds at two body sites and of warm and cold perception thresholds at 6 body sites using the method of limits. Data from 80 age-matched normal individuals provided control data for vibration and temperature thresholds. All familial dysautonomia patients had abnormal thermal thresholds. Vibration perception was abnormal in 20 patients. NCVs were slowed in 8 of 16 patients who agreed to be tested. Abnormalities in thermal thresholds are consistent with the reduction of small nerve fibers in familial dysautonomia Abnormal vibration thresholds might be due to disturbed conduction of vibratory impulse trains and reflect the degree to which the disorder is progressive. Vibration and thermal sensation testing were better accepted and provided more information than NCV regarding severity of disease.

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Section: Discussionmentioning

confidence: 99%

Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia

Hilz

Axelrod

2000

Clinical Autonomic Research

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“…Consistent with vascular and cardiac sympathetic dysfunction, patients exhibit rapid and severe orthostatic decreases in blood pressure without appropriate compensatory increases in heart rate [2,4]. Orthostatic symptoms can be very severe and may even contribute to sudden death [5,6], All FD patients had a severe and rapid fall in mean BP when tilted from supine to upright position, but only 50% (table 1) had supine hypertension. The latter may be a compensatory mechanism developed to avoid erect hypo tension and compromised perfusion to vital organs.…”

Section: Discussionmentioning

confidence: 99%

“…Patients exhibit sympathovagal imbalance which is clinically manifested as abnormal blood pressure (BP) and heart rate (HR) response to pos tural change and stress [2][3][4], Abnormalities in cardiovas cular regulation cause pervasive effects on overall func-tion and intrinsic abnormalities of heart rate control may be one of the major factors affecting survival [5][6][7], Retro spective analysis of cause of death in 48 patients with FD [6] revealed 23% of the total group had unexplained "sleep death' and 17% had sudden daytime cardiorespiratory arrest. Individuals in the latter group frequently had a his tory of the terminal episode being precipitated by an event that could result in vagal stimulation such as postu ral change, morning micturition, and nasogastric tube placement.…”

Section: Introductionmentioning

confidence: 99%

Electrocardiographic Measures and Heart Rate Variability in Patients with Familial Dysautonomia

et al. 1997

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Cardiovascular abnormalities are prominent in the genetic disorder, familial dysautonomia (FD). To determine if autonomic dysfunction involves cardiac, as well as peripheral vascular integrity, noninvasive tests were performed in 10 FD patients and 8 healthy control subjects while supine and at 90° tilt. Simultaneous blood pressure (BP) and heart rate (HR) and QTc were obtained, while performing signal-averaged electrocardiography (SAECG) and heart rate variability (HRV). FD subjects were tested on 2 separate days, before and 1 h after oral fludrocortisone or midodrine; controls were tested once without medication. With tilt, all FD subjects decreased mean BP > 24 mm Hg by 5 min. On SAECG, 70% of supine FD subjects had a prolonged tQRS; only 2 FD subjects shortened tQRS with tilt. The QTc interval was prolonged ( > 440 ms) in 2 supine FD subjects; with tilt, the QTc prolonged in a third. Frequency domain analysis of HRV revealed that mid (MF) and high frequency band areas were significantly decreased when supine, but not when upright. On time domain analysis, the pNN50 was significantly decreased in FD subjects (8.9 ± 1.7 vs. 17.7 ± 3.6%, p < 0.01). Fiudrocortisone lowered supine BP and HR and increased supine MF area. Midodrine raised supine and erect BP, lowered erect HR, and shortened erect QTc. Although all FD subjects have abnormal orthostatic BP and HR responses, cardiac tone, as assessed by electrocardiographic and HRV responses, varies. Prolongation of the tQRS appears to be a sensitive but not specific indicator of autonomic dysfunction. QTc prolongation may indicate more extensive sympathetic dysfunction. HRV data suggest some FD patients have abnormalities in parasympathetic, as well as sympathetic, cardiac tone.

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“…Upon review of the records of 513 FD patients presently registered with the Dysautonomia Treatment and Evaluation center, nine patients required pacemakers, six for bradycardia and syncope and three for complete heart block with asystole [11]. Retrospective analysis of cause of death in patients with FD [12] revealed 23% of the total group had unexplained "sleep death" and 17% had sudden daytime cardiorespiratory arrest. Individuals in the latter group frequently had a history of the terminal episode being precipitated by an event that might be the result of uncompensated vasovagal reflexes, ie, sympathovagal imbalance.…”

Section: Discussionmentioning

confidence: 99%

Electrocardiographic repolarization abnormalities in familial dysautonomia: an indicator of cardiac autonomic dysfunction

Glickstein

Axelrod

Friedman

1999

Clinical Autonomic Research

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In the FD population, the electrocardiographic measure of repolarization that was most frequently abnormal was the JTc interval . Prolongation of the JTc interval was significantly more frequent than prolongation of the QTC interval (p < 0.001) QT and QTC dispersions were less significantly affected in the FD population, indicating uniform ventricular recovery time. These results suggest that a prolonged JTc interval may be a more sensitive indicator of abnormal ventricular repolarization and cardiac autonomic dysfunction. Due to the known sympathetic denervation inherent in patients with FD, they are at risk for unopposed parasympathetic predominance. FD patients, therefore, are more likely to have brady arrhythmias and asystole rather than polymorphic ventricular tachycardia. The increased incidence of syncope in patients with prolonged JTc suggests that this measure may serve as a helpful marker to predict which FD patients are at increased risk of serious clinical sequelae including bradyarrhythmias with asystole or sudden death.

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Familial dysautonomia: A prospective study of survival

Cited by 72 publications

References 7 publications

Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia

Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia

Electrocardiographic Measures and Heart Rate Variability in Patients with Familial Dysautonomia

Electrocardiographic repolarization abnormalities in familial dysautonomia: an indicator of cardiac autonomic dysfunction

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