RESUMO
A 6-year-old boy from China presented initially at 2 years of age with a pulsatile mass in his right antecubital fossa. He was not fully evaluated until the age of six years, when pan-angiography and computed axial tomography scan revealed multiple aneurysms of his right brachial artery, right radial artery aneurysms, an infrarenal aortic aneurysm, and a right internal carotid artery aneurysm in the region of the cavernous sinus. The patient underwent uneventful repairs of both the abdominal aortic aneurysm and the multiple aneurysms of the right arm. Pathologic evaluation was significant for medial fibrosis of the arterial wall with decreased and disordered elastin fibers. Review of the previously reported cases in children indicate the upper extremity arteries are involved in 92% of patients, the aortoiliac region in 92% of patients, and the renal/mesenteric vessels in 77% of cases. Lower extremity and cerebrovascular arteries are involved to a lesser extent. Children with peripheral aneurysms should have pan-angiography performed before treatment is begun. Surgical repair in these cases has been excellent.
Assuntos
Aneurisma/cirurgia , Aneurisma da Aorta Abdominal/cirurgia , Artéria Braquial/cirurgia , Doenças das Artérias Carótidas/cirurgia , Artéria Radial/cirurgia , Aneurisma/diagnóstico por imagem , Aneurisma/etnologia , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/etnologia , Prótese Vascular , Artéria Braquial/diagnóstico por imagem , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/etnologia , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/cirurgia , Criança , China/etnologia , Humanos , Masculino , Doenças Vasculares Periféricas/diagnóstico por imagem , Doenças Vasculares Periféricas/etnologia , Doenças Vasculares Periféricas/cirurgia , Politetrafluoretileno , Artéria Radial/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Detailed DNA sequencing of the triple-helical domain of type III procollagen was carried out on cDNA prepared from 54 patients with aortic aneurysms. The 43 male and 11 female patients originated from 50 different families and five different nationalities. 43 patients had at least one additional blood relative who had aneurysms. Five overlapping asymmetric PCR products, covering all the coding sequences of the triple-helical domain of type III procollagen, were sequenced with 28 specific sequencing primers. Analysis of the sequencing gels revealed only two nucleotide changes that altered the structure of the protein. One was a substitution of threonine for proline at amino acid position 501 and its functional importance was not clearly established. The other was a substitution of arginine for an obligatory glycine at amino acid position 136. In 40 of the 54 patients, detection of a polymorphism in the mRNA established that both alleles were expressed. The results indicate that mutations in type III procollagen are the cause of only about 2% of aortic aneurysms.
Assuntos
Aneurisma Coronário/genética , Mutação , Pró-Colágeno/genética , Adulto , Idoso , Aneurisma/etnologia , Aneurisma/etiologia , Aneurisma/genética , Sequência de Bases , Canadá , Causalidade , Aneurisma Coronário/etnologia , Feminino , Finlândia , Variação Genética , Haiti , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Pacientes , Reação em Cadeia da Polimerase , Conformação Proteica , RNA Mensageiro/genética , Análise de Sequência de DNA , Suécia , Estados UnidosRESUMO
The distribution of aneurysms amongst African and Caucasian patients in two hospitals in Zimbabwe was surveyed in a retrospective study. Aneurysms were more common amongst the Caucasian patients and abdominal aortic aneurysms predominated (85%). Amongst the African patients there was a high incidence of thoracic aortic aneurysms (42%). Possible roles of atherosclerosis and syphilis in explaining these results are discussed.
