RESUMO
INTRODUCTION: Here we report the case of an asymptomatic carrier of the E46K substitution in alpha-synuclein gene where we have documented that cardiac sympathetic denervation precedes nigrostriatal dopaminergic loss. MATERIAL AND METHODS: She has been followed up regularly with standard neurological examination, UPDRS, neuropsychological formal testing, parkinson disease sleep scale-PDSS, Epworth scale, Hamilton-D scale, SCOPA Aut, orthostatic hypotension test, brief smell identification test, polysomnography, cerebral 123-I-FP-CIT SPECT, and, 123I-MIBG cardiac scintigraphy. RESULTS: She shows no presence of orthostatic hypotension. Olfactory test results demonstrate normal limits. In the PSG the nocturnal sleep shows mild abnormalities although the sleep efficiency and stage proportion remain under normal limits. The 123-I-FP-CIT SPECT is normal; in contrast, the 123I-MIBG cardiac scintigraphy shows a complete lack of isotopic uptake compatible with a severe sympathetic myocardial denervation. CONCLUSION: This example of monogenic autosomal dominant parkinsonism due to an alpha-synuclein mutation favours the hypothesis that peripheral autonomous nervous system involvement occurs earlier than the CNS degeneration.
Assuntos
Substância Negra/fisiopatologia , Simpatectomia , alfa-Sinucleína/genética , Feminino , Coração/fisiopatologia , Humanos , Pessoa de Meia-Idade , Mutação/genética , Doença de Parkinson/genéticaRESUMO
We report four new cases of exercise-induced atrio-ventricular block (appearing during treadmill exercise testing). The mechanism was ischemia in two patients and the conduction disturbance disappeared after coronary artery bypass grafting. The literature on this matter is reviewed. Also the etiology, the natural history and management are discussed in these cases.
Assuntos
Bloqueio Cardíaco/diagnóstico , Eletrocardiografia , Teste de Esforço , Feminino , Bloqueio Cardíaco/etiologia , Bloqueio Cardíaco/fisiopatologia , Bloqueio Cardíaco/terapia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We report the case of a young male with an inferior myocardial infarction who was treated with fibrinolytic agents and displayed a good evolution. The only cardiovascular risk factor that this patient had was an idiopathic thrombocytosis with abnormal platelet hyperreactivity tests. The angiogram showed an eccentric lesion of 60% in the left main coronary artery. A week later, after treatment based on anticoagulants and antithrombotic agents the angiogram was normal, and the lesion had disappeared. The association between these conditions is discussed the therapeutic approach is also discussed. A review of the literature is conducted.
Assuntos
Infarto do Miocárdio/etiologia , Trombocitose/complicações , Adulto , Humanos , Masculino , Infarto do Miocárdio/diagnóstico por imagem , RadiografiaRESUMO
The reflex-induced cardiovascular syncope is rarely associated with facial neuralgia and neck neoplasms. We report the case of a male with vasopressor and cardioinhibitor syncopes, despite the implantation of a pacemaker. Because of a glossopharyngeal neuralgia, a neoplasm of the left parapharyngeal fossae is diagnosed. The pathophysiology and the therapeutic approach is discussed.
Assuntos
Carcinoma/complicações , Nervo Glossofaríngeo , Neuralgia/etiologia , Neoplasias Faríngeas/complicações , Síncope/etiologia , Idoso , Humanos , MasculinoRESUMO
We report the case of a symptomatic adult with an occluded persistent duct with a transcatheter proceeding using a Rashkind prosthesis. After a month of follow up the color-coded Doppler-flow echocardiogram did not show residual shunt, posteriorly the patient's symptoms disappeared and the left ventricular dimensions were reduced. At the thirteen month of follow-up, the patient had an accident while working, falling down from a scaffold. Afterwards, a ductal jet was observed in the echocardiogram with an increased size of the left ventricle, symptoms also appeared. A cardiac catheterism was then performed showing a pulmonary/systemic flow rate of 2 and a 3 mm flow jet at the superior border of the prosthesis. A second prosthesis was implanted with no residual shunts.