Influências temporais nas características e fatores de risco de pacientes submetidos a revascularização miocárdica

OBJETIVO: Comparar perfil clínico e cirúrgico entre dois grupos de pacientes submetidos a Cirurgia de Revascularização Miocárdica (CRM) no Instituto de Cardiologia do Rio Grande do Sul, com intervalo de 10 anos; observar sua influência na mortalidade hospitalar e verificar previsibilidade deste resultado mediante escore de risco. MÉTODOS: Estudo de coorte retrospectivo, envolvendo 307 pacientes submetidos a CRM isolada em período semestral de 1991/92 (grupo INICIAL, n=153) ou 2001/02 (grupo ATUAL, n=154). Foram analisados características demográficas, doenças cardíacas, co-morbidades e eventos operatórios, visando à comparação entre grupos e definição do escore de risco de morte hospitalar (conforme Cleveland Clinic). RESULTADOS: O grupo ATUAL tinha idade mais avançada, condição cardíaca mais grave (classe funcional, prevalência de insuficiência cardíaca e número de vasos com lesão severa) e maior prevalência de co-morbidades. Os pacientes iniciais mostraram maior prevalência na indicação cirúrgica de urgência. Não ocorreu diferença no escore médio de risco calculado para ambos os grupos (2,8 + 3,1 no INICIAL e 2,2 + 2,5 no ATUAL) ou na mortalidade hospitalar (respectivamente 3,3% e 1,9%), valores comparáveis com os comunicados pela Cleveland Clinic (para escore de risco 3, mortalidade prevista de 2,0 %, com limite de confiança 95% de 0-4,3% e mortalidade real em estudo de confirmação de 3,4%). CONCLUSÃO: Pacientes atualmente submetidos a CRM são mais idosos e em pior condição clínica (cardíaca e sistêmica) que os operados há 10 anos, mas a pontuação no escore de risco e a mortalidade hospitalar foram discretamente aumentadas no grupo inicial. Para isto, pode ter contribuído maior prevalência de cirurgias de urgência. Um escore de risco pode ser utilizado para identificar pacientes que requerem maiores cuidados e predizer o resultado cirúrgico

Successful domino liver transplantation in maple syrup urine disease using a related living donor

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient’s mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD

Successful domino liver transplantation in maple syrup urine disease using a related living donor

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient’s mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD