RESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Adulto , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/patología , Cintigrafía/instrumentación , Cintigrafía/métodos , Atrofia Muscular Espinal/congénito , Presión Arterial/genética , Tomografía/métodos , Síndrome de Shy-Drager/diagnóstico , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/metabolismo , Cintigrafía/normas , Cintigrafía , Atrofia Muscular Espinal/metabolismo , Presión Arterial/fisiología , Tomografía/instrumentación , Síndrome de Shy-Drager/complicacionesRESUMEN
We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p.Cys146Arg mutation in the copper/zinc superoxide dismutase gene (SOD1). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness. The prominent clinical feature was orthostatic hypotension due to autonomic failure, which occurred after he underwent tracheostomy 1 year and 3 months after the onset. Thereafter, he required mechanical ventilation and progressed to communication stage V (totally locked-in state) 7 years after the onset. Neuropathology showed ALS with posterior column degeneration and multiple system degeneration. Severe neuronal loss in the intermediolateral nucleus was also observed. Two previously reported cases of ALS patients with autonomic failure showed severe neuronal loss in the intermediolateral nucleus in addition to degeneration of the motor neurons. Thus, autonomic failure due to neuronal loss in the intermediolateral nucleus could present in patients with ALS associated with certain mutations in SOD1.
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Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Mutación , Síndrome de Shy-Drager/genética , Síndrome de Shy-Drager/patología , Superóxido Dismutasa-1/genética , Esclerosis Amiotrófica Lateral/complicaciones , Pueblo Asiatico , Humanos , Japón , Masculino , Persona de Mediana Edad , Neuronas/patología , Linaje , Síndrome de Shy-Drager/complicacionesRESUMEN
INTRODUCTION: Orthostatic hypotension has been associated with impaired cognitive function, but cognitive function during orthostatic hypotension has hardly been studied. We studied the effect of orthostatic hypotension, induced by head-up tilt (HUT), on sustained attention in patients with autonomic failure. METHODS: We studied the sustained attention to response task (SART) in the supine position and during HUT in 10 patients with autonomic failure and 10 age-matched and sex-matched controls. To avoid syncope, the tilting angle was tailored to patients to reach a stable systolic blood pressure below 100 mm Hg. Controls were all tilted at an angle of 60°. Cerebral blood flow velocity, blood pressure and heart rate were measured continuously. RESULTS: In patients, systolic blood pressure was 61.4 mm Hg lower during HUT than in the supine position (p<0.001). Patients did not make more SART errors during HUT than in the supine position (-1.3 errors, p=0.3). Controls made 2.3 fewer errors during SART in the HUT position compared to the supine position (p=0.020). SART performance led to an increase in systolic blood pressure (+11.8 mm Hg, p=0.018) and diastolic blood pressure (+5.8 mm Hg, p=0.017) during SART in the HUT position, as well as to a trend towards increased cerebral blood flow velocity (+3.8 m/s, p=0.101). DISCUSSION: Orthostatic hypotension in patients with autonomic failure was not associated with impaired sustained attention. This might partly be explained by the observation that SART performance led to a blood pressure increase. Moreover, the upright position was associated with better performance in controls and, to a lesser extent, also in patients.
Asunto(s)
Atención , Enfermedades del Sistema Nervioso Autónomo/psicología , Síndrome de Shy-Drager/psicología , Adulto , Enfermedades del Sistema Nervioso Autónomo/complicaciones , Presión Sanguínea , Circulación Cerebrovascular , Femenino , Frecuencia Cardíaca , Humanos , Masculino , Pruebas Neuropsicológicas , Tiempo de Reacción , Síndrome de Shy-Drager/complicaciones , Posición Supina , Pruebas de Mesa InclinadaAsunto(s)
Accidentes por Caídas , Servicio de Urgencia en Hospital , Síndrome de Shy-Drager/diagnóstico , Diagnóstico Diferencial , Femenino , Fracturas Óseas/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Evaluación en Enfermería , Radiografía , Factores de Riesgo , Hueso Escafoides/diagnóstico por imagen , Hueso Escafoides/lesiones , Síndrome de Shy-Drager/complicacionesRESUMEN
A syncope evaluation should start by identifying potentially life-threatening causes, including valvular heart disease, cardiomyopathies, and arrhythmias. Most patients who present with syncope, however, have the more benign vasovagal (reflex) syncope. A busy syncope practice often also sees patients with neurogenic orthostatic hypotension presenting with syncope or severe recurrent presyncope. Recognition of these potential confounders of syncope might be difficult without adequate knowledge of their presentation, and this can adversely affect optimal management. This article reviews the presentation of the vasovagal syncope confounder and the putative pathophysiology of orthostatic hypotension, and suggests options for nonpharmacologic and pharmacologic management.
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Enfermedades del Sistema Nervioso Autónomo/complicaciones , Hipotensión Ortostática/complicaciones , Síncope Vasovagal/etiología , Barorreflejo/fisiología , Diagnóstico Diferencial , Hemodinámica/fisiología , Humanos , Hipotensión Ortostática/diagnóstico , Hipotensión Ortostática/terapia , Enfermedad de Parkinson/diagnóstico , Postura/fisiología , Insuficiencia Autonómica Pura/complicaciones , Insuficiencia Autonómica Pura/diagnóstico , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/diagnóstico , Pruebas de Mesa Inclinada , Maniobra de Valsalva/fisiologíaRESUMEN
Respiratory stridor in patients with multiple system atrophy is a complication that occasionally causes nocturnal sudden death. Continuous positive airway pressure (CPAP) therapy has been proposed as an alternative to tracheostomy to treat nocturnal stridor associated with multiple system atrophy. However, some patients cannot tolerate CPAP therapy and experience sleep disturbances, even if the pressure is controlled; also, CPAP therapy can be less effective in patients with a narrow glottic opening during sleep. This report describes the effect of laser arytenoidectomy on respiratory stridor caused by multiple system atrophy.
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Cartílago Aritenoides/cirugía , Terapia por Láser , Síndrome de Shy-Drager/complicaciones , Apnea Obstructiva del Sueño/cirugía , Presión de las Vías Aéreas Positiva Contínua , Femenino , Humanos , Laringectomía , Laringoscopía , Persona de Mediana Edad , Ruidos Respiratorios/etiología , Apnea Obstructiva del Sueño/etiología , Ronquido/etiología , Ronquido/cirugíaRESUMEN
AIMS: This paper will review literature that examines the psychological and neuropsychological correlates of orthostatic blood pressure regulation. RESULTS: The pattern of change in systolic blood pressure in response to the shift from supine to upright posture reflects the adequacy of orthostatic regulation. Orthostatic integrity involves the skeletal muscle pump, neurovascular compensation, neurohumoral effects and cerebral flow regulation. Various physiological states and disease conditions may disrupt these mechanisms. Clinical and subclinical orthostatic hypotension has been associated with impaired cognitive function, decreased effort, reduced motivation and increased hopelessness as well as dementia, diabetes mellitus, and Parkinson's disease. Furthermore, inadequate blood pressure regulation in response to orthostasis has been linked to increased depression and anxiety as well as to intergenerational behavioral sequalae. CONCLUSIONS: Identifying possible causes and consequences of subclinical and clinical OH are critical in improving quality of life for both children and older adults.
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Presión Sanguínea/fisiología , Circulación Cerebrovascular/fisiología , Trastornos del Conocimiento/fisiopatología , Trastornos del Humor/fisiopatología , Síndrome de Shy-Drager/fisiopatología , Animales , Sistema Nervioso Autónomo/crecimiento & desarrollo , Sistema Nervioso Autónomo/fisiopatología , Trastornos del Conocimiento/etiología , Humanos , Trastornos del Humor/etiología , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/fisiopatología , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/diagnósticoRESUMEN
BACKGROUND: Autonomic dysfunction (AD) is associated with morbidity and mortality in patients with systolic heart failure (SHF). The extent of AD when LV ejection fraction is preserved (HF-NEF), is unclear. Our objectives were: 1) quantitative assessment of autonomic function in SHF and HF-NEF; and 2) exploration of relationships among AD, symptoms and cardiac function. METHODS: This was an observational study of patients newly referred from primary care with a heart failure diagnosis; 21 SHF, 20 HF-NEF patients and 21 normal subjects were recruited. All subjects underwent clinical evaluation, 6-minute walk test (6 MWT), Minnesota Questionnaire (MLWHFQ) and echocardiography. Autonomic assessment included haemodynamic responses to standing, deep breathing and handgrip. Concomitant blood pressure variability (BPV) and heart rate variability (HRV) parameters were also derived. RESULTS: There were significant differences in all haemodynamic responses between SHF, HF-NEF and normal. Log transformed (ln) low frequency spectral component of BPV was lower in SHF (4.1 ± 0.3) than HF-NEF (4.2 ± 0.4) and normal (4.4 ± 0.1; p=0.001 SHF vs HF-NEF and vs normal). Ln LF/HF was greater in normal than HF-NEF and SHF (1.5 ± 0.7 vs 0.9 ± 1.0 vs 0.6 ± 0.6; p=0.003). Autonomic modulations correlated negatively with severity of heart failure. CONCLUSIONS: Autonomic responses in heart failure were blunted and the attenuation of responses correlated strongly with symptomatic and functional markers of disease severity. Autonomic dysfunction is a feature of the heart failure syndrome but is not dependent on ejection fraction.
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Enfermedades del Sistema Nervioso Autónomo/complicaciones , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Insuficiencia Cardíaca Sistólica/complicaciones , Insuficiencia Cardíaca Sistólica/fisiopatología , Volumen Sistólico/fisiología , Adulto , Barorreflejo/fisiología , Presión Sanguínea/fisiología , Femenino , Fuerza de la Mano/fisiología , Insuficiencia Cardíaca Sistólica/diagnóstico por imagen , Frecuencia Cardíaca/fisiología , Humanos , Masculino , Persona de Mediana Edad , Pletismografía , Frecuencia Respiratoria/fisiología , Índice de Severidad de la Enfermedad , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/fisiopatología , Ultrasonografía , Maniobra de Valsalva/fisiologíaRESUMEN
Idiopathic orthostatic hypotension (formerly known as Shy-Drager syndrome) is a multiple system atrophy, which is characterized by autonomic dysregulation. Providing perioperative hemodynamic stability during narcosis is therefore a particular challenge. The effects of general anesthesia on systemic vascular resistance and cardiac output in a patient with idiopathic orthostatic hypotension undergoing retropubic prostatectomy will be reported. In the case presented perioperative hemodynamic stability was achieved by aggressive volume therapy guided by global end-diastolic volume measurement and low-dose catecholamine therapy.
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Anestesia General , Síndrome de Shy-Drager/complicaciones , Anciano , Volumen Sanguíneo/fisiología , Gasto Cardíaco/fisiología , Catecolaminas/uso terapéutico , Hemodinámica/fisiología , Humanos , Masculino , Monitoreo Intraoperatorio , Enfermedad de Parkinson/complicaciones , Prostatectomía , Síndrome de Shy-Drager/tratamiento farmacológico , Resistencia VascularRESUMEN
OBJECTIVE: To report preliminary results of a prospective ongoing study of multiple system atrophy (MSA) and Parkinson disease (PD), with a large subset of patients with PD with autonomic failure (25%), to evaluate autonomic indices that distinguish MSA from PD. METHODS: We used consensus criteria, detailed autonomic studies (Composite Autonomic Symptom Scale, Composite Autonomic Scoring Scale, thermoregulatory sweat test, and plasma catecholamines), and functional scales (Unified MSA Rating Scale [UMSARS] I-IV and Hoehn-Yahr grading) on a prospective, repeated, and ongoing basis. RESULTS: We report the results of a study on 52 patients with MSA (mean [SD], age, 61.1 [7.8] years; body mass index (calculated as weight in kilograms divided by height in meters squared), 27.2 [4.6]; Hoehn-Yahr grade, 3.2 [0.9]; UMSARS I score, 21.5 [7.4]; and UMSARS II score, 22.7 [9.0]) and 29 patients with PD, including PD with autonomic failure (mean [SD], age, 66.0 [8.1] years; body mass index, 26.6 [5.5]; Hoehn-Yahr grade, 2.2 [0.8]; UMSARS I score, 10.4 [6.1]; and UMSARS II score, 13.0 [5.9]). Autonomic indices were highly significantly more abnormal in MSA than PD (P < .001) for the Composite Autonomic Scoring Scale (5.9 [1.9] vs 3.3 [2.3], respectively), Composite Autonomic Symptom Scale (54.4 [21.8] vs 24.7 [20.5], respectively), and thermoregulatory sweat test (percentage anhidrosis, 57.4% [35.2%] vs 9.9% [17.7%], respectively). These differences were sustained and greater at 1-year follow-up, indicating a greater rate of progression of dysautonomia in MSA than PD. CONCLUSIONS: The severity, distribution, and pattern of autonomic deficits at study entry will distinguish MSA from PD, and MSA from PD with autonomic failure. These differences continue and are increased at follow-up. Our ongoing conclusion is that autonomic function tests can separate MSA from PD. Autonomic indices support the notion that the primary lesion in PD is ganglionic and postganglionic, while MSA is preganglionic.
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Atrofia de Múltiples Sistemas/diagnóstico , Atrofia de Múltiples Sistemas/fisiopatología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/fisiopatología , Síndrome de Shy-Drager/diagnóstico , Síndrome de Shy-Drager/fisiopatología , Anciano , Regulación de la Temperatura Corporal/fisiología , Catecolaminas/análisis , Catecolaminas/sangre , Diagnóstico Diferencial , Errores Diagnósticos/prevención & control , Evaluación de la Discapacidad , Femenino , Ganglios Autónomos/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Atrofia de Múltiples Sistemas/complicaciones , Examen Neurológico/métodos , Enfermedad de Parkinson/complicaciones , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Síndrome de Shy-Drager/complicaciones , Enfermedades de las Glándulas Sudoríparas/diagnóstico , Enfermedades de las Glándulas Sudoríparas/etiología , Enfermedades de las Glándulas Sudoríparas/fisiopatologíaRESUMEN
In this practically oriented review, we will outline the clinical approach of patients with falls due to an impairment or loss of consciousness. Following a set of definitions, we describe the salient clinical features of disorders leading to such falls. Among falls caused by true loss of consciousness, we separate the clinical characteristics of syncopal falls (due to reflex syncope, hypovolemia, orthostatic hypotension or cardiac syncope) from falls due to other causes of transient unconsciousness, such as seizures. With respect to falls caused by an apparent loss of consciousness, we discuss the presentation of cataplexy, drop attacks, and psychogenic falls. Particular emphasis will be laid upon crucial features obtained by history taking for distinguishing between the various conditions that cause or mimic a transient loss of consciousness.
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Accidentes por Caídas/estadística & datos numéricos , Síncope/etiología , Síncope/fisiopatología , Inconsciencia/etiología , Inconsciencia/fisiopatología , Enfermedades del Sistema Nervioso Autónomo/complicaciones , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Cataplejía/complicaciones , Cataplejía/diagnóstico , Cataplejía/fisiopatología , Diagnóstico Diferencial , Epilepsia/complicaciones , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Humanos , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/diagnóstico , Síndrome de Shy-Drager/fisiopatología , Síncope/diagnósticoRESUMEN
A previously healthy 60 years old female patient presented with bradykinesia, postural instability and increased rigidity of both upper and lower limbs for 2 years and was diagnosed as Parkinsonism for last years. Later on she developed features of autonomic dysfunction including postural hypotension, hyperhydrosis and urinary incontinence so was diagnosed as Shy-Drager Syndrome. She was treated with fludrocortisone and nefidipine for the management of postural hypotension. Patient developed aspiration pneumonia during oral feeding, despite of ICU management for the same cause patient died of respiratory arrest.
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Trastornos Parkinsonianos/complicaciones , Síndrome de Shy-Drager/complicaciones , Femenino , Humanos , Persona de Mediana Edad , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/terapia , Síndrome de Shy-Drager/diagnóstico , Síndrome de Shy-Drager/terapiaAsunto(s)
Enfermedades del Sistema Nervioso Autónomo/complicaciones , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Postura , Taquicardia/etiología , Taquicardia/fisiopatología , Adulto , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Presión Sanguínea , Femenino , Humanos , Pronóstico , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/diagnóstico , Síndrome de Shy-Drager/fisiopatología , Síndrome , Taquicardia/diagnósticoRESUMEN
Patients with autonomic failure suffer severe postural hypotension that may be associated with symptoms of cerebral hypoperfusion. This study utilized near-infrared spectroscopy (NIRS) to measure changes in cerebral oxygenation and haemodynamics during the head-up tilt table test in 18 patients with autonomic failure and 10 healthy age-matched volunteers. Heart rate, blood pressure (MAP), oxygen saturation, cerebral tissue oxygen index (TOI) and total cerebral haemoglobin concentration [HbT] were measured continuously. In patients with autonomic failure there was a mean (SD) reduction in MAP of 46.7 (26.5) mmHg (p < 0.005) associated with a reduction in TOI of 8.6 (6.2)% (p < 0.005) during the head-up tilt table test. In healthy volunteers mean (SD) MAP rose by 12.3 (8.0) mmHg (p < 0.005) and TOI fell by 2.6 (3.2)% (p < 0.05). There was a mean (SD) reduction in [HbT] of 3.09 (2.82) micromol l(-1) (p < 0.005) in patients, equivalent to a decrease in cerebral blood volume of 0.2 (0.18) ml/100 g. There were no changes in [HbT] in the healthy volunteers. Postural hypotension in patients with autonomic failure is associated with a substantial decrease in absolute cerebral oxygenation measured by NIRS and this might reflect a critical reduction in cerebral oxygen delivery.
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Presión Sanguínea , Encéfalo/irrigación sanguínea , Encéfalo/fisiopatología , Oxígeno/metabolismo , Postura , Síndrome de Shy-Drager/fisiopatología , Espectrofotometría Infrarroja/métodos , Adulto , Anciano , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/etiología , Isquemia Encefálica/fisiopatología , Circulación Cerebrovascular , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oximetría/métodos , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/diagnóstico , Pruebas de Mesa Inclinada/métodosRESUMEN
AIM: To detect and characterise the pattern and extent of pupil abnormalities in patients with generalised autonomic failure. METHODS: A consecutive series of 150 patients referred for investigation of symptomatic generalised autonomic failure underwent pupil investigations. Infra-red video pupillography was used to measure resting pupil diameters in light and dark, the light reflex response, the miosis associated with an accommodative effort, and responses to topical administration of various pharmacological agents. The results were compared with data recorded under identical conditions from a cohort of 315 age-matched and sex-matched healthy controls. RESULTS: Overall, two thirds of patients had abnormal pupils (66%) with sympathetic deficit occurring twice as often as parasympathetic deficit. However, the prevalence and type of pupil abnormality showed wide variation according to aetiology--for example, almost all patients with amyloidosis had abnormal pupils, two thirds with pure autonomic failure but less than a quarter with multiple system atrophy. In most patients (85%), pupil abnormalities were bilateral and symmetrical, none had a Horner's syndrome in one eye and a tonic pupil in the other. No significant correlation between the type of pupil abnormality and the predominant type of systemic autonomic deficit was seen in most conditions. CONCLUSIONS: The pupils are often affected in autonomic neuropathy, although this is not always apparent either to the patient or to their doctors. Considerable care is needed not only to detect these abnormalities but also to interpret correctly the results of pupil tests in this group of patients.
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Trastornos de la Pupila/etiología , Síndrome de Shy-Drager/complicaciones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pupila/fisiología , Trastornos de la Pupila/clasificaciónRESUMEN
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
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Encéfalo/metabolismo , Encéfalo/fisiopatología , Enfermedades Mitocondriales/genética , Mutación/genética , Trastornos Parkinsonianos/genética , Proteínas Quinasas/genética , Edad de Inicio , Encéfalo/diagnóstico por imagen , Diagnóstico Diferencial , Dopaminérgicos/uso terapéutico , Metabolismo Energético/genética , Predisposición Genética a la Enfermedad/genética , Humanos , Italia , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Mitocondrias/genética , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/diagnóstico por imagen , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/genética , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/diagnóstico por imagen , Fenotipo , Síndrome de Shy-Drager/complicaciones , Síndrome de Shy-Drager/genética , Síndrome de Shy-Drager/fisiopatología , Sistema Nervioso Simpático/fisiopatología , Tomografía Computarizada de Emisión de Fotón Único , Resultado del TratamientoRESUMEN
BACKGROUND: Oral ingestion of water increases seated blood pressure in patients with chronic autonomic failure by mechanisms that remain unclear. As orthostatic hypotension is common in chronic autonomic failure, and is not always adequately controlled by medication, the potential benefits of water ingestion on standing blood pressure were studied in two types of autonomic failure: multiple system atrophy (MSA), in which the lesion is central and pre-ganglionic, and pure autonomic failure (PAF), in which the lesion is post-ganglionic. METHODS: In 14 patients with autonomic failure (seven PAF and seven MSA) standing blood pressure and heart rate were measured before, and 15 and 35 minutes after ingestion of 480 ml distilled water. Patients remained seated for 15 minutes after water ingestion, with beat to beat cardiovascular indices measured with the Portapres II device with subsequent Modelflow analysis. RESULTS: Standing prior to water ingestion caused a significant fall in blood pressure in all patients. After water ingestion there was a rise in seated blood pressure. Seated and standing blood pressure at 15 and 35 minutes after water ingestion was significantly higher than before water, with an improvement in orthostatic symptoms. The time to first significant rise in seated blood pressure occurred at 5 minutes post water ingestion in PAF and at 13 minutes in MSA. These increases were accompanied by increases in total peripheral resistance, reaching significance by 5 minutes in PAF and 13 minutes in MSA. There were no significant changes in cardiac output, stroke volume, or ejection fraction. CONCLUSIONS: Water is thus beneficial in improving standing BP in AF, acting within 15 minutes in both MSA and PAF. The earlier onset of the pressor effect in PAF may reflect the differing lesion site and underlying pathophysiology between these conditions.