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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.
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PMID:Williams syndrome in adults. 148 39

Eight patients with the middle aortic syndrome are described. They were aged 2 months to 14 years at diagnosis; follow up was one to 11 years. Clinical presentations included asymptomatic hypertension (n = 5), severe headache, nose bleed, and chest pain (n = 1), and cardiac failure (n = 1). All had severe hypertension requiring multiple drug treatment. Diminished peripheral pulses were not helpful in the diagnosis, which is made on aortography. Associated clinical findings were Williams' syndrome (n = 3) and appreciable eosinophilia (n = 3). The differential diagnosis includes Takayasu's arteritis, fibromuscular dysplasia, and neurofibromatosis. Blood pressure was adequately controlled by medical treatment in six patients. Surgical angioplasty was performed in two. One patient remained normotensive without drug treatment 21 months after operation; the other died of sepsis and uncontrollable haemorrhage in the postoperative period. Medical treatment is satisfactory in most cases: surgery should be reserved for those in whom blood pressure cannot be controlled without unacceptable side effects of drug treatment. Although rare, the middle aortic syndrome should be considered in the differential diagnosis of hypertension when commoner causes have been excluded. Aortography is necessary for diagnosis.
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PMID:Middle aortic syndrome: clinical and radiological findings. 158 Jun 80

Between September 1955 and January 1990, 94 pediatric patients were managed for renovascular hypertension caused by renal artery occlusive disease. Patients (50 boys and 44 girls) were aged 4 days to 17 years (median age: 7 years). At initial evaluation, 34 patients had symptoms of hypertensive encephalopathy or acute heart failure, 36 had moderate symptoms, and 24 were symptom-free. Sixty-five cases were classified on the basis of clinical, radiological, and histological features, as follows: neurofibromatosis (17), fibromuscular dysplasia (11), diffuse arterial calcified elastopathy (11), renal artery thrombosis (10), Williams syndrome (4), Takayashu disease (3), and miscellaneous diseases (9). In the 29 remaining patients, classification was based only on radiological features: causes included unilateral renal artery stenosis (15), bilateral renal artery stenosis with or without aortic stenosis (11), and miscellaneous disorders (3). Surgical treatment consisted in 47 renal revascularization, procedures (14 aortorenal bypasses, 8 aortorenal reimplantations, 9 anastomoses in the upper mesenteric arterial system, 7 autotransplantations, 4 resection-reanastomosis procedures, and 5 miscellaneous procedures). Renal revascularization failed in 15 cases (32%) (because of thrombosis in 14 cases and dehiscence in one). Residual or recurrent stenosis was seen in 7 arteries, whereas the anatomic result was satisfactory in 25 arteries (53%). Blood pressures returned to normal in 16 of 40 (40%) patients successfully treated by revascularization. An additional 25 patients recovered normal blood pressure values after primary nephrectomy (21), partial nephrectomy (4) or nephrectomy after failed renal revascularization.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Renal artery pathology and its therapeutic indications in the child]. 192 4

Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multisystem medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45-year-old man had parathyroid hyperplasia. Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS patient.
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PMID:Adults with Williams syndrome. 189 83

The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was investigated. A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found. Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years. Developmental disabilities and cardiovascular disease were the major concerns in childhood. The older children developed progressive joint limitation and hypertonia. Adult patients were handicapped by their developmental disabilities. Hypertension, and gastrointestinal and genitourinary problems occurred frequently. Independent living and competitive employment were limited less by the individual's physical problems than by the psychologic and adaptive limitations. Williams syndrome is a progressive disorder with multisystem involvement.
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PMID:Natural history of Williams syndrome: physical characteristics. 245 79

In the past two decades, 853 children and adolescents have been evaluated for elevated BP as inpatients and outpatients by the hypertension service at Children's Hospital Medical Center, Cincinnati. Most children with hypertension secondary to coarctation of the aorta and all children with glomerulonephritis are managed by other services and are not included in that total. In a retrospective study, 27 children (3%) were identified as having hypertension secondary to intrinsic renal arterial stenosis. The age at presentation ranged from 5 months to 20 years. The mean BP at that time was 171.6/114.2 mm Hg. Ten categories of causes were identified, including fibromuscular dysplasia, arteritis, Williams syndrome, neurofibromatosis, congenital malformations, blunt abdominal trauma, surgical vascular trauma-irradiation, thrombosis, congenital rubella syndrome, and unknown. Overall, symptoms were not common. However, findings of end-organ response, such as left ventricular hypertrophy and retinal vascular abnormalities were prevalent. This is not surprising given the mean BP level at presentation. Physical examination, laboratory tests, and radiologic evaluations (exclusive of renal angiography) were not useful in detecting or identifying the location and extent of the renovascular lesions. Fourteen patients were treated surgically, and 13 were managed medically. The outcome was variable for both treatment modalities. The management of renovascular hypertension in children must be individualized depending on the cause, location, and severity of the lesion, as well as the size of the child. Some forms of renovascular pathology, particularly the arteritides, may resolve spontaneously, and children with these entities should have their BP treated medically until the inflammatory process has subsided.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical spectrum of intrinsic renovascular hypertension in children. 295 4

We have described some of the cardiological findings in 66 patients with Williams-Beuren syndrome and analysed the two dimensional cross sectional echocardiograms in 61 of them in comparison with normal controls. Supravalvar aortic narrowing was shown in all patients examined echocardiographically and may be a useful diagnostic sign. We documented a 7.8% incidence of systemic hypertension, a 15% clinical and echocardiographic incidence of mitral valve prolapse, and a 11.6% incidence of bicuspid aortic valve.
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PMID:Cardiac anomalies in Williams-Beuren syndrome. 341 98

Seventy six children with documented Fanconi-type idiopathic infantile hypercalcaemia were studied and compared with 41 with the Williams-Beuren syndrome. Clinical comparison showed, as expected, very close similarities but also considerable differences, particularly in the severity of feeding problems and the degree of failure to thrive. The estimated incidence of idiopathic infantile hypercalcaemia alone has remained constant for the past 20 years, at approximately 18 cases per year in the United Kingdom (1 per 47 000 total live births). Long term morbidity in these children is mainly due to mental handicap and arteriopathy, but hypertension (29%), kyphoscoliosis (19%), hyperacusis (75%), and obesity (50%) may be added complications. In one child, hypercalcaemia recurred during adolescence but this seems to be excessively rare. More detailed investigation before treatment is required to discover the aetiology of hypercalcaemia in this condition.
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PMID:Idiopathic infantile hypercalcaemia--a continuing enigma. 646 28

One hundred and four patients with Williams-Beuren syndrome were investigated from 1958 to 1992. Follow-up ranged from 1 to 32 years (mean 13), during which time 10 patients died and 17 were lost to follow-up. Seventy-six patients were in NYHA classes I and II and one was in class III. When first investigated, blood pressure was raised in 82% of the patients; at the latest evaluation 52% suffered from high blood pressure. Right heart catheterization was performed in 100 patients and repeated in 19; left heart catheterization was performed in 85 patients and repeated in 21. Right ventricular pressure ranged from 20 to 140 mmHg (mean 45), the mean pressure decreased from 66 mmHg to 50 mmHg (P < 0.006), the average value of the 19 patients in whom the measurements were repeated. The supravalvular aortic gradients ranged from 0 to 110 mmHg (mean 27), and the mean value of the 21 patients with repeated catheterization increased from 13 to 27 mmHg (P < 0.03). Twenty-nine patients underwent operative repair, two patients died peri-operatively. Pre-operative aortic gradients ranged from 40 to 110 mmHg (mean 76), postoperative gradients from 0 to 90 mmHg (mean 15). Forty-one adult patients were reevaluated. Doppler investigation revealed mild aortic insufficiency in eight patients and severe mitral regurgitation in one. In 32 patients, bicycle exercise testing was normal.
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PMID:Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. 829 25

We tabulated the frequency of renal abnormalities in 40 Williams syndrome individuals presenting for medical and/or developmental assessment to a multi-disciplinary Williams syndrome program. The average age at time of assessment was 7 2/12 years. Seven individuals (7/40 = 18%) had abnormalities detected, including nephrocalcinosis = 2; marked asymmetry in kidney size = 2; small kidneys = 1; solitary kidney = 1; and pelvic kidney = 1. Renal function was also assessed. Two individuals had evidence of renal dysfunction, one secondary to nephrocalcinosis and the second due to hypercalcemia and interstitial nephritis of unclear pathogenesis. We examined the frequency of renal artery stenosis in 9 individuals who underwent abdominal angiography during cardiac catheterization. We found unilateral or bilateral mild renal artery narrowing in 4 individuals and normal renal arteries in the remaining 5. Persistent hypertension occurred in only 2 individuals and did not correlate with renal artery status. We conclude that intrinsic renal anomalies, as well as problems secondary to hypercalcemia, occur with sufficient frequency to warrant baseline renal screening in all individuals with Williams syndrome.
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PMID:Renal findings in 40 individuals with Williams syndrome. 848 70


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