RESUMO
Mid-aortic syndrome (MAS) is a rare condition characterized by stenosis of the distal thoracic and/or abdominal aorta. Williams-Beuren syndrome (WBS) is a relatively rare cause of MAS. We report a case of incidentally diagnosed MAS caused by WBS without typical manifestations caused by an atypical small-sized deletion in chromosome 7q11.23, which was initially misdiagnosed as Takayasu arteritis.
Assuntos
Aorta/anormalidades , Arterite de Takayasu/diagnóstico , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Adolescente , Antagonistas Adrenérgicos beta/uso terapêutico , Antagonistas de Receptores de Angiotensina/uso terapêutico , Aorta/diagnóstico por imagem , Aortografia/métodos , Deleção Cromossômica , Angiografia por Tomografia Computadorizada/métodos , Erros de Diagnóstico , Quimioterapia Combinada , Ecocardiografia/métodos , Fluordesoxiglucose F18/farmacocinética , Humanos , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Masculino , Análise em Microsséries/métodos , Tomografia por Emissão de Pósitrons/métodos , Resultado do TratamentoRESUMO
Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare but fatal complication of cancer and causes pulmonary hypertension and acute/subacute right heart failure. PTTM is most commonly associated with gastric cancer and more rarely associated with pancreatic cancer. We report a case of progressive right heart failure associated with clinically diagnosed pancreatic cancer, suggesting PTTM.