RESUMO
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as thickening of the left-sided valves, ventricular hypertrophy, and intimal stenosis of the coronary arteries. There have been few reports of vasculopathy in this population. We present the case of a 58-year-old woman with Morquio A syndrome who was found to have aortic dilation on a routine screening echocardiogram. Magnetic resonance images revealed multiple tortuous, dilated arteries in her head, neck, and abdomen. The diffuse vasculopathy seen in this patient should prompt further study to determine whether this is an underreported phenomenon of clinical significance or an unusual finding in this rare disorder.
Assuntos
Mucopolissacaridose IV/complicações , Doenças Vasculares/etiologia , Diagnóstico Diferencial , Ecocardiografia , Feminino , Humanos , Imageamento Tridimensional , Angiografia por Ressonância Magnética , Pessoa de Meia-Idade , Mucopolissacaridose IV/diagnóstico , Fenótipo , Doenças Vasculares/diagnósticoRESUMO
Carcinoid tumors are rare neuroendocrine malignancies that typically originate from the gastrointestinal tract. Patients who are diagnosed with carcinoid heart disease generally have poor prognoses because of advanced metastases during staging and few therapeutic options. We present the case of a 61-year-old woman with right-sided heart failure, secondary to carcinoid heart disease caused by a primary ovarian carcinoid tumor. After undergoing surgical resection of the left ovary and fallopian tube, the patient experienced complete resolution of her heart failure symptoms. In addition to the patient's case, we discuss the diagnosis, nature, and treatment of this rare condition.
Assuntos
Doença Cardíaca Carcinoide/terapia , Tumor Carcinoide/cirurgia , Insuficiência Cardíaca/terapia , Neoplasias Ovarianas/cirurgia , Doença Cardíaca Carcinoide/etiologia , Tumor Carcinoide/complicações , Feminino , Insuficiência Cardíaca/etiologia , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/complicaçõesRESUMO
Papillary fibroelastoma is a rare, benign cardiac tumor typically found on the heart valves. It is usually discovered incidentally on echocardiography. The clinical presentation of cardiac papillary fibroelastoma varies from no symptoms to severe embolic sequelae. We report the incidental finding of papillary fibroelastoma in 2 patients. In each, we chose to excise the tumor. The relevant medical literature provides little guidance regarding whether to excise a small papillary fibroelastoma in an asymptomatic patient. Multimodal imaging, which we discuss in the context of our patients' cases, aids the cardiologist and cardiovascular surgeon in more accurately evaluating papillary fibroelastoma preoperatively.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Diagnóstico por Imagem , Fibroma/diagnóstico , Fibroma/cirurgia , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/cirurgia , Achados Incidentais , Diagnóstico por Imagem/métodos , Ecocardiografia Transesofagiana , Feminino , Humanos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Tomografia Computadorizada por Raios XRESUMO
Diagnostic evaluation of embolic neurologic events requires the consideration of cardiac causes. We recently encountered a case that emphasizes the importance of cardiac tumor as a source of embolic events. We present herein the case of a 42-year-old woman who suffered a transient ischemic attack caused by a papillary fibroelastoma that originated from the aortic valve.