1/127. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant.Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the heart, kidneys, and peripheral nervous system. The disease is always progressive and fatal, and patients die 7 to 10 years after the onset of symptoms. liver transplantation is at present the only choice for these patients because it provides improvement of symptoms and/or stops progression of the disease in most patients. We report the case of a patient who showed clear progression of cardiomyopathy and neuropathy after liver transplantation.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/127. Very long chain acyl coenzyme a dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme a dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic analysis. The patient was a compound heterozygote for mutations in the VLCAD gene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130del ); this allele is of paternal origin. The patient's maternally derived allele is a novel mutation, C1843T in exon 20, which creates a premature termination codon (R615stop ). Although molecular genetic characterization of VLCAD deficiency is limited to a few patients, heterogeneity of mutations is already apparent. However, the E130del is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our patient appear to be responsible for his severe and fatal clinical manifestations.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/127. Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).We report a 19-year-old male with Seckel syndrome (bird-like dwarfism) who presents with malignant hypertension associated with hypertensive nephrosclerosis, dilated cardiomyopathy, and a ruptured cerebral artery aneurysm. Although end-organ injury due to chronic hypertension occurs frequently in adults, no previous reports of renal insufficiency due to hypertension exist in children or adolescents. We speculate that this patient may have been particularly prone to hypertensive end-organ injury due to his extreme short stature.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
4/127. Mobile intracardiac calcinosis: a new risk of thromboembolism in patients with haemodialysed end stage renal disease.Cardiac calcinosis is a common complication of end stage renal disease. A newly observed risk of thromboembolism is reported in four patients with mobile cardiac calcinosis, treated with long term dialysis. Rapidly growing mobile calcification was confirmed by echocardiography. Each patient had an imbalance in serum calcium x inorganic phosphate (Ca x P product >/= 50); this imbalance could not be treated due to the sudden death of the patient or the need for surgical resection to prevent recurrent cerebral thromboembolism. Histological examination revealed intracardiac calcinosis in three cases, and each case showed haemodialysis hypoparathyroidism (intact PTH < 160 pg/ml). thromboembolism in such cases is rare, however it indicates a need for cautious echocardiographic monitoring in end stage renal disease in patients with an uncontrolled Ca x P product.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/127. A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells.Transthyretin-Met 30 (TTR-Met 30) is a variant of transthyretin and is usually associated with familial amyloid polyneuropathy. It is rare that patients with TTR-Met 30 will primarily develop amyloid cardiomyopathy. This report presents a patient with late-onset TTR-Met 30 who primarily developed amyloid cardiomyopathy, with less amyloid polyneuropathy in the peripheral nervous system than is usually seen. An autopsy was performed, and histological examination revealed many foreign-body giant cells and macrophages in the area of amyloid deposition that was found in nearly all of the organs.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/127. Cardiopulmonary manifestations of Henoch-Schonlein purpura.Henoch-Schonlein purpura (HSP) is usually a mild condition involving the skin, gut, joints, and kidneys and has a good prognosis. We present a 63-year-old Hispanic man who had an unusually severe form of HSP with a fatal outcome attributable to vasculitis causing myocardial necrosis. There is only one citation in the literature of HSP-related myocardial vasculitis, which involved the right ventricle and was successfully treated with steroids. Our patient had severe HSP-related myocardial necrosis, tracheobronchitis, and nephritis. The bronchial lesions resolved, presumably because of steroid therapy. This probably is the first case of fatal myocardial necrosis related to HSP. We conclude that HSP can, in some cases, have an aggressive course. It becomes imperative to recognize the involvement of the other organ systems, such as the heart, so that appropriate therapy may be initiated. immunosuppression may have a beneficial effect on extrarenal lesions. Controlled clinical trials are needed to establish the efficacy of such treatment.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/127. Fatal cardiac arrhythmia after infusion of dimethyl sulfoxide-cryopreserved hematopoietic stem cells in a patient with severe primary cardiac amyloidosis and end-stage renal failure.amyloidosis (AL) is a rapidly fatal plasma cell dyscrasia causing progressive multiorgan failure. Recently, substantial improvement of survival was reported following high-dose chemotherapy with peripheral blood stem cell (PBSC) rescue. We describe a patient with AL with severe cardiac and renal involvement who received high-dose melphalan followed by fractioned autologous PBSC transplantation (455 ml on day 1 and 350 ml on day 2). Immediately after the second infusion of the PBSCs, life-threatening cardiac arrhythmias occurred and, despite intensive treatment, the patient died less than 24 h later. The infusion of cryopreserved PBSCs may be associated with complications, including cardiac toxicity. dimethyl sulfoxide (DMSO) is the most frequently used cryopreservation agent. In the present case, we suggest that DMSO could have played an important role in causing the fatal cardiac arrhythmias. The mechanisms of the cardiovascular effects of DMSO and the possible preventive measures are discussed. Given the poor prognosis of AL and the promising results of dose-intensive chemotherapy with autologous PBSC transplantation, careful patient selection and intensive monitoring are mandatory in order to further pursue this therapeutic approach.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/127. hemoptysis following left ventricular aneurysm repair: a misleading clinical sign.We report on a 66-year-old man with severe hemoptysis following coronary artery bypass grafting and repair of a left ventricular septal defect after acute myocardial infarction. Initial diagnosis was delayed by misleading clinical symptoms and radiologic studies. Due to subfebrile temperature and sputum culture positive for pseudomonas aeruginosa, he had been treated with antibiotics before reoperation. At reoperation, replacement of all foreign material and reconstruction of the ventricular repair with bovine pericardium resulted in reinfection with the same organism despite prolonged antibiotic therapy after 6 months. Removal of the pericardial tissue with direct suture closure of the ventricles and interposition of omentum led to complete healing of the infection without reoccurrence after 2 years.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/127. Transvenous pacemaker insertion ipsilateral to chronic subclavian vein obstruction: an operative technique for children and adults.subclavian vein occlusion limits insertion of pacing electrodes in children and adults. The concern is greatest in children with a long-term need for pacing systems necessitating use of the contralateral vein and potential bilateral loss of access in the future. We describe an operative technique to provide ipsilateral access in chronic subclavian vein occlusion in five consecutive pediatric (n = 4, mean age 6.5 years) and adult (n = 1, age 70 with bilateral subclavian vein occlusion) patients in whom this condition was noted at the time of pacemaker or ICD implant. Occlusion was documented by venography. Pediatric cardiac diagnoses included complete heart block in all patients, tetralogy of fallot in three, and L-transposition of the great vessels in one. Percutaneous brachiocephalic (innominate) or deep subclavian venous access was achieved by a supraclavicular approach using an 18-gauge Deseret angiocath, a Terumo Glidewire, and dilation to permit one or two 9-11 Fr sheaths. Electrode(s) were positioned in the heart and tunneled (pre- or retroclavicularly) to a pre- or retropectoral pocket. Pacemaker and ICD implants were successful in all without any complication of pneumothorax, arterial or nerve injury, or need for transfusion. Inadvertent arterial access did not occur as compared with prior infraclavicular attempts. One preclavicularly tunneled electrode dislodged with extreme exertion and was revised. Ipsilateral transvenous access for pacemaker or ICD is possible via a deep supraclavicular percutaneous approach when the subclavian venous obstruction is discovered at the time of implant. In children, it avoids the use of the contralateral vein that may be needed for future pacing systems in adulthood. This venous approach provides access large enough to allow even dual chamber pacing in children and can be accomplished safely.- - - - - - - - - - ranking = 0.037955111823622keywords = nerve (Clic here for more details about this article) |
10/127. Resolution of organ-specific complications of human immunodeficiency virus infection in children with use of highly active antiretroviral therapy.opportunistic infections are a major source of morbidity and mortality in children and adults infected with human immunodeficiency virus (hiv). In addition, organ-specific complications of hiv infection, such as cardiomyopathy, nephropathy, encephalopathy, and others, contribute substantially to the morbidity and mortality associated with hiv infection. Highly active antiretroviral therapy (HAART) has produced a dramatic decline in the incidence of opportunistic infections among patients with hiv infection. Nevertheless, there is very little information concerning the value of HAART for organ-specific complications of hiv infection. In this report, we describe 3 children with hiv infection in whom the dominant clinical manifestations were cardiomyopathy, red cell aplasia, and nephropathy. HAART produced a decrease in the hiv ribonucleic acid level, an increase in the CD4 cell count, and resolution of the organ-specific complications in all patients. These cases add to our knowledge concerning the benefits of HAART for children with hiv infection.- - - - - - - - - - ranking = 7keywords = organ (Clic here for more details about this article) |
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