RESUMO
UNLABELLED: We report a case in which a 3-year-old girl with terminal deletion of the long arm of chromosome 3 had dilated cardiomyopathy, a complication that has not previously been reported in association with this chromosome abnormality. In addition to cardiomyopathy, she had intrauterine growth retardation, small eyes and mouth, a broad nose, thin lips, low-set ears, a short neck and overlapping second toes. CONCLUSION: due to the paucity of reported cases of 3q deletion, and the clinical variability of such cases, identification of a distinct 3q phenotype (including cardiac complications) remains elusive.
Assuntos
Cardiomiopatia Dilatada/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/tratamento farmacológico , Cardiomiopatia Dilatada/patologia , Pré-Escolar , Evolução Fatal , Feminino , HumanosRESUMO
A senile patient developed fatal intestinal necrosis right after uneventful cardiovascular operation using usual cardiopulmonary bypass. Cholesterol crystal embolism (CCE) was demonstrated histologically, but angiograms were typical of non-occlusive mesenteric ischemia (NOMI). Very severe vasoconstriction occurred not only in the superior mesenteric artery but also in other splanchnic arteries. The clinical course strongly suggested that NOMI resulted from CCE and that some humoral factors were released and played very important roles in this case.
