Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Whereas the information on the subject of arterial status is sketchy and haphazard with respect to any one genetic disorder, the number of these diseases would have precluded the provision of a critical review within the scope of this presentation. Thus, it was deemed more meaningful to approach the subject selectively. A brief summary was provided on the nature of the arterial wall and its involvement in genetic diseases either as a primary target or a secondarily affected organ, and on "affinity" of various genetic disorders for a type (elastic, muscular, or smallest), segment (proximal, distal), and layer (intimal, medial, adventitial) of the arterial tree or the arterial wall, respectively. Genetic diseases may affect arteries by "causing" (a) congenital malformations, (b) alteration of the arterial "makeup" without necessarily producing definable lesions, and (c) modification of a nongenetic arterial disease (e.g., atherosclerosis), or by "producing" (d) arterial lesions that are characteristic of (even specific for?) a given genetic disorder. A few examples were selected to illustrate (b) (tuberous sclerosis; infantile GM1-gangliosidosis), (c) Wolman's disease; familial hyperlipoproteinemias), and (d) [Hurler's disease, neurofibromatosis; Ehlers-Danlos syndrome (type IV)]. Whenever available, the results of electron microscopic studies carried out in our laboratories were included. Some of these have not been reported in the literature to date. The need for a coordinated multidisciplinary approach to the study of genetic diseases in general is stressed in closing.
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PMID:Arterial involvement in genetic diseases. 333 42

The case of a 34-year-old white male who died suddenly and unexpectedly of a thrombosed coronary artery aneurysm is presented. Coronary artery aneurysms have a prevalence of approximately 2%; over half of these are caused by atherosclerosis with the remainder due to syphilis, infections, trauma, congenital malformations, vasculitis, neoplasms, and connective tissue disorders (Ehlers-Danlos and Marfan's syndromes). Replacement of the media by atherosclerotic debris is the cause of atherosclerotic aneurysms. Complications include rupture and thrombosis. Sudden death has been reported in eight other cases of atherosclerotic aneurysms; sudden unexpected death as the presenting symptom of atherosclerotic coronary artery aneurysm, as in our case, is rare.
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PMID:Sudden unexpected death due to atherosclerotic coronary artery aneurysm. 402 68

The records of all patients with aneurysm of the subclavian-axillary artery who were seen between January, 1960, and January, 1980, were reviewed. There were 31 patients (21 male and 10 female) with a mean age of 47 years. The aneurysm (mean size, 3.0 cm) was located on the right in 20 patients and on the left in 10; one patient had bilateral aneurysms. Mural thrombus was present in 25 patients. Eight patients were asymptomatic and 23 presented with upper extremity pain. Thromboembolism occurred in five patients, one presenting with impending loss of tissue. Two patients had the aneurysm rupture and one of them died. A pulsating mass was palpable in 20 patients, including the eight who were asymptomatic. Vocal cord paralysis occurred in two patients. The cause of the aneurysm was atherosclerosis in 12 patients, trauma in 10, poststenotic dilation secondary in thoracic outlet obstruction in 6, mycotic aneurysm in 2, and Ehlers-Danlos syndrome in one patient. Seven patients had nine aneurysms in other areas. Surgical treatment consisted of thoracic outlet decompression in 4 patients, graft interposition in 11, tangential aneurysmorrhaphy in 8, ligation in 4, and exploratory surgery only in one. One forearm amputation was subsequently performed. Three patients did not undergo surgery. Average length of follow-up was 9.2 years. Except for the patient who underwent amputation, all treated patients had adequate circulation in the extremities. No aneurysm recurred and no complication of the repair developed. We conclude that aneurysms of the subclavian-axillary artery, although rare, are both life- and limb-threatening. Resection and arterial reconstruction are recommended.
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PMID:Subclavian-axillary artery aneurysms. 728 Oct 14

A non-invasive pulse-wave-velocity Doppler ultrasound technique for the assessment of aortic compliance is described. A computational approach for correcting for the effect of non-chronic changes in blood pressure is considered and applied to compliance measurements performed on an age-select cohort of 70 normotensive, normal healthy volunteers. In order to permit the wider availability of the pulse-wave-velocity Doppler ultrasound technique, the authors have developed a MkII system based on a standard 80486/33 MHz IBM compatible WINDOWS based personal computer; real-time spectral analysis being achieved using a relatively inexpensive but fast analogue to digital signal processing card. An overview of the new apparatus is provided and verification work to compare the repeatability of the MkI and MkII systems is described. Medical disorders such as atherosclerosis, diabetes mellitus, familial hypercholesterolaemia, growth hormone deficiency, and Ehlers-Danlos and Marfan's syndromes have all been shown to affect arterial wall compliance. We suggest that the in vivo clinical measurement of blood pressure corrected aortic distensibility using the MkII system may be a useful, reproducible, non-invasive tool for assessing such patients' susceptibility to atheromatous arterial disease as well as for monitoring their response to therapeutic interventions. Measurements in the aorta may be especially pertinent since the natural history of fatty streaks there tends to parallel that in the coronary vasculature thereby potentially affording a convenient surrogate estimate of coronary heart disease.
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PMID:Aortic compliance measured by non-invasive Doppler ultrasound: application of a personal computer based MkII system and its repeatability. 806 7

Renal artery aneurysms are being increasingly encountered due to the wider use of angiography. From 1972 to 1992, 28 patients with renal artery aneurysm were identified in the present study, including 18 women and 10 men, with a mean age of 58 years. The aneurysms were discovered incidentally in 39% of patients during evaluation for hypertension in 39%, and during investigation of abdominal pain in 22%. Only 7% of patients had symptoms directly attributable to the aneurysm. Aneurysm size varied from 0.5cm to 8cm in diameter, with a mean of 2.1 cm. The main renal artery was involved in 52% of cases, and primary branches in 44%; the remainder were intraparenchymal. There was a slight right-sided predominance in this series. The etiology of the aneurysms included atherosclerosis (75%), fibromuscular disease (21%), and Ehlers-Danlos syndrome (4%). Surgical therapy was undertaken in 10 patients (36%). Procedures performed included aortorenal bypass in four patients, aneurysm excision and renal artery repair in three, partial nephrectomy in one, and total nephrectomy in two. Although the natural history of renal artery macroaneurysms is not known with certainty, potential complications include embolization and rupture. The authors' indications for surgery include: (a) symptomatic or enlarging aneurysms; (b) renal embolization; (c) aneurysms in pregnant females or those considering pregnancy; (d) renovascular hypertension; (e) aneurysms> 2.5cm. Most symptom-free aneurysm s<2.5 cm in diameter can be safely treated expectantly.
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PMID:Renal artery aneurysm: a report of 28 cases. 886 34

Arterial dissection is usually associated with pathological states such as malignant hypertension, severe atherosclerosis, severe trauma, Marfan syndrome, or Ehlers-Danlos syndrome. However, we report three cases in which renal artery dissection occurred in otherwise healthy, normotensive men. In two cases, the onset of symptoms of renal artery dissection was coincident with an unusual degree of physical activity. In the third case, the symptoms occurred while the patient was sitting but during a stressful business meeting. In each case, the patient experienced severe unilateral flank pain. Urolithiasis was suspected, but intravenous pyelography showed only ipsilateral impaired renal cortical perfusion, and the urinalyses showed no hematuria. The diagnosis of renal artery dissection was established by arteriography in two cases and by nephrectomy in one case. The latter case showed fibromuscular dysplasia by arteriography performed after the nephrectomy. The other two cases showed no evidence of fibromuscular dysplasia. We conclude that spontaneous renal artery dissection can occur in otherwise healthy individuals. Our experience and the reports of others indicate that this condition occurs mainly in men, conservative (nonsurgical) management is generally indicated, and the long-term prognosis is generally excellent. In some patients, an unusual degree of physical exertion might be the cause of renal artery dissection.
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PMID:Renal artery dissection causing renal infarction in otherwise healthy men. 939 33

Ehlers-Danlos Syndrome Type IV is an illness that often leads to premature death due to arterial rupture or dissection and is characterized by very fragile connective tissue. This report documents the death of a 30-year-old man with Ehlers-Danlos Syndrome Type IV from myocardial rupture and cardiac tamponade following a myocardial infarction. We believe that Ehlers-Danlos Syndrome Type IV contributed to the coronary atherosclerosis and myocardial rupture in this young man and that this disease led indirectly to his death by myocardial infarction, an unusual cause of death in this syndrome.
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PMID:Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? 1581 60

Examples of single gene disorders have been described for all major subtypes of ischaemic stroke: accelerated atherosclerosis and subsequent thrombo-embolism (e.g. homocysteinuria), weakening of connective tissue resulting in arterial dissections (e.g. Ehler-Danlos type IV), disorders of cerebral small vessels (e.g. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and the collagen COL4A1 mutation), disorders increasing the thrombogenic potential of the heart through affecting the myocardium or the heart valves or through disturbance of the heart rhythm (e.g. hypertrophic cardiomyopathy), mitochondrial cytopathies increasing cerebral tissue susceptibility to insults (e.g. mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and finally disorders of coagulation that can either directly cause stroke or act synergistically with the aforementioned abnormalities (e.g. sickle cell disease). Most of these disorders are rare but they are important to consider particularly in young patients with stroke, those with a family history or those who have other characteristics of a particular syndrome.
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PMID:Genetics of ischaemic stroke; single gene disorders. 1870 33

Abdominal aortic aneurysms (AAAs) are a major cause of illness and death in the United States and abroad. Along with progress in the surgical management of this condition, numerous advances have been made in understanding the pathogenesis of AAAs. Since the time of Scarpa (1804), AAA disease has been associated with, and attributed to, atherosclerotic vessel changes. Excluding patients with Marfan's Syndrome and Ehlers-Danlos type IV diseases, virtually all human AAA specimens contain some degree of atherosclerosis. However, atherosclerotic changes are associated with diverse arteriopathies (ie, aorto-occlusive disease versus AAAs). Over the last 25 years, considerable research has been performed comparing aneurysmal, occlusive, and normal aortae. AAA disease is a unique process with pathogenic mechanisms that may operate independently of atherosclerosis. In this chapter we discuss the incidence of AAA as well as its pathogenesis concerning genetics, molecular biology, biochemistry, and immunology.
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PMID:Incidence and pathogenesis of aneurysmal disease of the abdominal aorla. 2131 6

The hepatic artery can be involved by a variety of pathology and diseases.Today MDCT enables high quality imaging of the hepatic artery using axial, MIP and volume rendered images. We illustrate MDCT findings of anatomical variations, aneurysm, dilatation, dissection, arteriovenous fistula, thrombosis and stenosis. Aneurysms can be saccular, fusiform and multiple and may develop due to atherosclerosis, vasculitis, trauma and biopsy. Dilatation of hepatic artery can be seen in portal hypertension, Osler-Weber-Rendu disease and hemangiomatosis. Hepatic artery can be occluded after trauma and transplantation. Dissection develops due to atherosclerosis, Marfan and Ehler Danlos syndromes and during pregnancy. Arteriovenous fistula can be congenital and acquired. We conclude that various hepatic artery pathologies can be confidently diagnosed by MDCT.
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PMID:Multidetector CT of hepatic artery pathologies. 2397 Nov 78


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