1/14. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.Severe hyperhomocysteinemia due to cystathionine beta-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, approximately 50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. These patients, who displayed no other known thrombophilic predisposition, had suffered single or multiple venous thrombosis before CBS deficiency was diagnosed relatively late in life. In this family, homozygosity for the 833T-->C mutation was associated with a mild phenotype with respect to other sequelae of CBS deficiency. Consequently, our results indicate that most cases with this genotype may remain undiagnosed. Investigated family members heterozygous for the 833T-->C mutation displayed normal total homocysteine in plasma (tHcy) levels, even when they were homozygous for the methylenetetrahydrofolate reductase 677C-->T polymorphism. The prevalence of homozygosity for the 833T-->C mutation has previously been estimated at no less than 1:20 500 in our population. Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
2/14. factor v Leiden and prothrombin G20210A in relation to arterial and/or vein rethrombosis: two cases.The factor v Leiden (FV Leiden) and prothrombin G20210A mutations, are the most common established genetic risk factors for deep vein thrombosis (DVT). However, the relationship between these mutations and arterial thrombotic syndromes (coronary heart disease, myocardial infarction, stroke) has not been established. Some studies have suggested a relationship between them, but other authors have considered it unlikely that these anomalies are a major risk factor for arterial thrombosis. From the clinical point of view, a question arises concerning the risk of repeated thrombosis in patients carrying one of these two mutations. The question is whether the recurrence is attributable to the mutations or to the presence of additional circumstantial risk factors. As the risk of repeated thrombosis varies considerably from one patient to another, decisions about long-term treatment require weighing the persistence of risk factors for vascular disease (venous and arterial), especially in selected cases such as young patients or patients with thrombosis of unusual localization.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
3/14. Familial lupus anticoagulant.The antiphospholipid antibody syndrome (APS) is defined by widespread arterial and venous thromboses associated with elevated plasma levels of antiphospholipid antibodies (APLA). The primary antiphospholipid antibody syndrome (PAPS) appear to be a fairly homogeneous disease, and HLA, family and other studies provide new insights into this cause of thrombosis and vascular disease. We describe two patients with PAPS (lupus anticoagulant positive), whose family members were analyzed for clinical and laboratory abnormalities associated with APS. Familial screening seems to be important, in order to prevent the thrombotic events. Low dose aspirin is the first line treatment in asymptomatic subjects with APLA, previous or present thrombosis requiring long-term, possibly life-long anticoagulation.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
4/14. Thrombus in the main pulmonary artery of a patient with thromboangiitis obliterans: observation by transthoracic echocardiography.We describe a 45-year-old man with thromboangiitis obliterans. He had a large immobile wall-adherent thrombus located in the main pulmonary artery, which was detected by transthoracic echocardiography. The pulmonary arterial involvement in this patient may suggest that thromboangiitis obliterans is a generalized vascular disease. We conclude that pulmonary artery should be thoroughly examined for thrombi in thromboangiitis obliterans patients who present with signs and symptoms of right heart failure. Transthoracic echocardiography should be the initial mode of examination in these patients.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
5/14. Abnormalities on cardiopulmonary exercise test in a dyspneic patient. A case report of unsuspected pulmonary embolism.The cardiopulmonary exercise test (CPET) is frequently used for the quantitative evaluation of exercise tolerance and for the qualitative assessment of the origin of dyspnea. Although reasonably safe, CPET is contraindicated in acute clinical situations and relatively contraindicated in severe pulmonary hypertension. Pulmonary emboli are usually present during the acute onset of pulmonary hypertension; however, in situations where pulmonary vascular disease is more unsuspected, CPET may help with the diagnosis. We present a report of a 47-year-old Caucasian female with a 2-month history of exertional dyspnea. She had a normal pulmonary function test, arterial blood gas analysis and CT scan of the chest. On CPET she was found to have a higher than normal physiological dead space to tidal volume ratio, increased ventilatory equivalent for the elimination of CO(2) (V(E)/VCO(2)), persistently positive arterial-end-tidal PCO(2 )difference at peak exercise, and a low anaerobic threshold suggestive of pulmonary vascular disease. She was subsequently diagnosed with pulmonary embolic disease by her ventilation/perfusion scan and pulmonary arteriogram. This report highlights the importance of recognizing the hallmarks of unsuspected pulmonary vascular disease on CPET.- - - - - - - - - - ranking = 3keywords = vascular disease (Clic here for more details about this article) |
6/14. Pulmonary hypertension in patients using oral contraceptives. A report of six cases.Six young women who had taken progestational agents for a period of time ranging from six months to five years developed symptoms and signs of pulmonary hypertension. cardiac catheterization confirmed the presence of severe pulmonary hypertension without evidence of other cardiac or pulmonary abnormalities to explain this phenomenon. Three of the patients had potential predispositions to pulmonary hypertension, including a corrected patent ductus arteriosus with mild pulmonary hypertension in one, collagen vascular disease in a second, and family history of pulmonary hypertension in a third. Three patients had no known predisposing factors. Although the relationship between oral contraceptives and severe pulmonary hypertension is problematic, there have been isolated reports of cases of pulmonary hypertension secondary to oral contraceptive usage. These cases and the possible pathophysiologic mechanisms responsible are discussed.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
7/14. An autopsied case of Eisenmenger syndrome complicated by recurrent thromboembolic phenomena in postpartal period.dyspnea, back pain, edema, and cyanosis developed suddenly in a 23-year-old woman during the last trimester of her first pregnancy. Although she had been noticed to have the enlarged heart and exertional shortness of breath to a slight degree, she had been apparently in good condition without any significant heart murmurs. Clinically, recurrent episodes of disseminated intravascular coagulation, including pulmonary thrombosis, were thought to be superimposed to Eisenmenger syndrome associated with toxemia of pregnancy. Anticoagulant and fibrinolytic treatments were tried, but their effectiveness was limited by hemorrhagic diathesis. She died of respiratory and circulatory failure after delivery of a moribund baby. autopsy revealed eisenmenger complex (a defect in the membranous portion of the interventricular septum and pulmonary vascular disease) and many fresh hemmorrhages in both lungs with a lot of new and organized thrombi. Fresh thrombi were also seen in the heart, the pancreas and the kidneys. The high peripartal mortality in Eisenmenger syndrome could be attributed to pulmonary thrombosis, which may be related to DIC, as well as to peripartal changes in circulatory function.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
8/14. Neoplastic venous involvement and pulmonary embolism in patients with germ cell tumors.Inferior vena caval (IVC) obstruction and pulmonary embolism (PE) were observed in three patients with untreated germ cell tumors. A review of the literature revealed nine similar cases. The clinical presentation and specific management of IVC occlusion and PE may delay or interfere with definitive treatment of the tumor. The occurrence of this complication before starting cytotoxic chemotherapy has implications with regard to other types of vascular disease observed in patients with these tumors.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
9/14. Above-knee amputation with insidious pulmonary embolism and hypercoagulability secondary to protein c deficiency.Pulmonary embolus can have insidious onset and unusual etiology. This case report of a 35-year-old woman with hyperthyroidism, atrial fibrillation, and an above-knee amputation demonstrates the subtle presentation of pulmonary emboli. On the rehabilitation ward of a tertiary care hospital, the patient developed undulating fever to 39.6C, rapidly worsening peripheral vascular disease, and pulmonary emboli. Eventually, a protein c deficiency was found; institution of appropriate therapy resulted in rapid improvement. This case reminds physiatrists to evaluate thoroughly the cause of pulmonary thrombi. Currently available assays permit rapid elucidation of factor deficiencies in the workup of the hypercoagulable state.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
10/14. sarcoma of the pulmonary artery.A patient is described in whom clinical presentation, V/Q scan, and pulmonary angiogram were consistent with pulmonary embolus. No improvement occurred despite therapy with heparin. When sent for surgical embolectomy, sarcoma of the pulmonary artery was diagnosed. This entity, though rare, should be considered in the differential diagnosis of pulmonary vascular disease.- - - - - - - - - - ranking = 1keywords = vascular disease (Clic here for more details about this article) |
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