RESUMO
We investigated three patients with cardiac angiosarcomas and two with cardiac rhabdomyosarcomas, all for mutations at exons 5, 6, 7 and 8 of the p53 gene and at exon 1 of K-ras. No point mutations were observed in the p53 gene in any of the five cases; however, at exon 1 of K-ras, three patients (60%) presented the same mutation at the first base of codon 13 (G to A transition). Interestingly, this mutation was detected in both rhabdomyosarcoma and angiosarcoma histologic sarcoma types.
Assuntos
Genes p53/genética , Genes ras/genética , Neoplasias Cardíacas/genética , Hemangiossarcoma/genética , Rabdomiossarcoma/genética , Adulto , Análise Mutacional de DNA , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Arrhythmogenic right ventricular dysplasia is a rare disease that usually presents with ventricular arrhythmias and sometimes with heart failure. Rarely symptoms become severe and refractory to conventional therapy. We present the case of a 36-year-old man with this disease who had sustained ventricular arrhythmias and severe right heart failure. Because these symptoms were poorly controlled with medical therapy, cardiac transplantation was finally chosen as definitive treatment. The patient had a favorable course and now leads near-normal life.