Mixomas Cardíacos, 13 Anos de Experiência no seu Diagnóstico Ecocardiográfico

INTRODUCTION: Transthoracic echocardiography is the method of choice for the diagnosis of cardiac myxomas, but the transesophageal approach provides a better definition of the location and characteristics of the tumor. The authors review their thirteen years' experience on the echocardiographic diagnosis of this pathology. METHODS: From 1994 to 2007, 41 cardiac tumors were diagnosed in our echocardiographic laboratory, of which 27 (65.85%) were cardiac myxomas. The exams and the patients' clinical files were retrospectively reviewed. RESULTS: Of the 27 patients, 22 (81.5%) were female, with a mean age of 62.1 +/- 13.6 years (25-84 years). The predominant clinical features were due to the obstruction caused by the tumor in more than two thirds of the patients, followed by constitutional symptoms in one third and embolic events in 30%. In the lab results, anemia was found in three patients and elevated sedimentation rate and CRP in two. In two patients the myxoma was found by chance. All the cases were of the sporadic type, although we found a prevalence of thyroid disease of 14% (4 patients). All patients underwent urgent surgical resection except one, in whom surgery was refused due to advanced age and comorbidities. The myxomas followed a typical distribution with 24 (88.8%) located in the left atrium, 18 of them attached to the atrial septum (AS) and two to the mitral valve. In one patient, the tumor involved both atria. The other two cases originated in the right atrium at the AS. Embolic phenomena were more frequent in small tumors (p = 0.027) and in those with a villous appearance (p = 0.032). Obstructive manifestations were associated with larger tumors (p = 0.046) and larger left atria (p = 0.048). In our series, there were no deaths during hospitalization or in the follow-up period of 5.2 +/- 3.7 years in 19 patients. There were two recurrences, both patients being successfully reoperated. CONCLUSION: Myxoma is the most common cardiac tumor. Transesophageal echocardiography provides excellent morphologic definition, aiding in diagnosis and follow-up. Most clinical manifestations are obstructive and are associated with larger tumors. Small tumors with a friable appearance have a higher chance of embolization. Surgical resection is usually curative and the long-term prognosis is excellent.

Miosite Orbitária

Orbital myositis is a subgroup of the nonspecific inflammatory syndrome or orbital pseudotumor and is characterized by a primary inflammation of extraocular muscles. The authors describe a 70-year-old patient with acute proptosis, ocular pain and right ophthalmoplegia, whose orbital computed tomographic scan showed enlargement of the homolateral extraocular muscles. Clinical presentation and complementary tests were compatible with the diagnosis of orbital myositis however, because of the particular aspects, which included retinal central vein occlusion, optic nerve lesion, distension of the superior ophthalmic vein and the homolateral cavernous sinus, the differential diagnosis with cavernous sinus pathology and thyroid ophthalmopathy was considered. The importance of a rapid diagnosis and treatment is stressed.

Relação entre Hipotiroidismo Subclínico e Doença Coronária: um Estudo com Angiografia

INTRODUCTION: The definition of subclinical hypothyroidism (SH) is an asymptomatic state in which free thyroxine (T4) is normal and thyroid-stimulating hormone (TSH) levels are elevated. Its relationship with coronary disease is not clear and has been the subject of recent interest. Current evidence is conflicting and there is a lack of studies supported by coronary angiography. OBJECTIVE: To assess the relationship between SH and the presence and extent of coronary disease diagnosed by angiography. METHODS: We prospectively studied 354 consecutive patients referred for elective coronary angiography. Those with known thyroid disease, documented coronary disease or previous myocardial infarction were excluded. Fasting blood specimens were collected to measure thyroid hormones, lipid profile, high-sensitivity C-reactive protein, fibrinogen and NT-proBNP. Patients with SH were compared with those without to assess differences in clinical characteristics and biochemical and angiographic results. Significant coronary disease was defined as the presence of at least one lesion with > or = 50% luminal stenosis. Lesions with <50% stenosis were considered minimal. RESULTS: SH was diagnosed in 32 (9%) patients. Mean age was similar between the groups. There were more women (66% vs. 39%; p=0.003) and atrial fibrillation was more frequent (25% vs. 11%; p=0.016) in the group of patients with SH. There were no significant differences in the other baseline clinical parameters, and blood biochemistry results were similar in the two groups, with the exception of higher levels of NT-proBNP in SH patients, although without statistical significance. The angiographic results were as follows: significant coronary disease (SH 28.1% vs. non-SH 43.8%; p=0.087); three-vessel disease (9.4% vs. 9.9%; p=0.919); two-vessel disease (12.5% vs. 13.4%; p=0.892); single-vessel disease (6.3% vs. 29.5%; p=0.051); minimal lesions (9.4% vs. 10.9%; p=0.794); and no coronary disease (62.4% vs, 45.3%; p=0.064). CONCLUSION: In this population SH was not associated with the presence or extent of coronary disease diagnosed by coronary angiography.

Clinical and Pathological Findings in Women with Fabry Disease

Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X. Females with the defective gene are more than carriers and can develop a wide range of symptoms. Nevertheless, disease symptoms generally occur later and are less severe in women than in men. The enzyme deficiency manifests as a glycosphingolipidosis with progressive accumulation of glycosphingolipids and deposit of inclusion bodies in lysosomes giving a myelinlike appearance. Patients and Methods. Records of renal biopsies performed on adults from 1st January 2008 to 31st August 2011, were retrospectively examined at the Renal Pathology Laboratory. We retrieved biopsies diagnosed with Fabry disease and reviewed clinical and laboratory data and pathology findings. Results. Four female patients with a mean age of 49.3±4.5 (44-55) years were identified. The mean proteinuria was 0.75±0.3 g/24h (0.4-1.2) and estimated glomerular filtration rate (CKD EPI equation) was 71±15.7 ml/min/1.73m2 (48-83). Three patients experienced extra-renal organ involvement (cerebrovascular, cardiac, dermatologic, ophthalmologic and thyroid) with distinct severity degrees. Leukocyte α-GAL A activity was below normal range in the four cases but plasma and urinary enzymatic activity was normal. Light microscopy showed predominant vacuolisation of the podocyte cytoplasm and darkly staining granular inclusions on paraffin and plastic-embedded semi-thin sections. Electron microscopy showed in three patients the characteristic myelin-like inclusions in the podocyte cytoplasm and also focal podocyte foot process effacement. In one case the inclusions were also present in parietal glomerular cells, endothelial cells of peritubular capillary and arterioles. Conclusion. Clinical signs and symptoms are varied and can be severe among heterozygous females with Fabry disease. Intracellular accumulation of glycosphingolipids is a characteristic histologic finding of Fabry nephropathy. Since this disease is a potentially treatable condition, its early identification is imperative. We should consider it in the differential diagnosis of any patient presenting with proteinuria and/or chronic kidney disease, especially if there is a family history of kidney disease.

Hipertiroidismo na Gravidez – um Caso Clinico

Thyroid disease is common in pregnant women.We report a 10 weeks gestation pregnancy with hyperemesis gravidarum, hypertension crisis and hyperthyroidism

Função Tiroideia em Doentes com Trissomia 21 – Casuística de Duas Consultas num Hospital Pediátrico Central

Em crianças e adolescentes com síndrome de trissomia 21 observa-se uma prevalência aumentada de alterações da função tiroideia. A mais frequentemente encontrada é o hipotiroidismo subclínico, seguida do hipotiroidismo clínico e, mais raramente, doença de Graves. O diagnóstico de hipotiroidismo é, por vezes, tardio pois os sintomas são confundidos com as manifestações características da trissomia 21, sendo portanto fundamental rastrear sistematicamente a função tiroideia nestas crianças. A velocidade de crescimento é um elemento clínico que pode contribuir quer para a valorização do diagnóstico quer da terapêutica apesar de esta não ser totalmente consensual. Descreve-se a casuística de um Hospital Central Pediátrico em foram seguidas quarenta e cinco crianças e adolescentes com trissomia 21, entre Janeiro de 2000 e Maio de 2008. Neste grupo de crianças, foram detectadas alterações da função tiroideia em dezanove; a alteração mais frequente foi o hipotiroidismo subclínico (treze) seguida do hipotiroidismo clínico (cinco); houve apenas um caso de hipertiroidismo. As alterações da função tiroideia aumentaram com a idade dos doentes, foram mais frequentes no sexo feminino e tiveram uma clínica inespecífica.

Gravidez e Amamentação. Efeitos Secundários dos Fármacos Usados no Tratamento das Doenças da Tiróide, Sobre o Feto e o Recém-Nascido

Os autores referem os efeitos secundários, sobre o feto e o recém-nascido, dos antitiroideus de síntese, dos bloqueadores ß, dos iodetos, do iodoradiactivo(131I), carbonato de lítio e tiroxina. Os fármacos mais frequentemente utilizados são os antitiroideus de síntese e a tiroxina. Os riscos dos antitiroideus estão relacionados com o facto de atravessarem a barreira placentar e poderem provocar bócio e hipotiroidismo fetais. As hormonas tiroideias maternas, que atravessam a placenta, são muito importantes para o normal desenvolvimento neuronal de feto durante o primeiro trimestre.

IgG4-Related Hashimoto's Thyroiditis - A New Variant of a Well Known Disease

Hashimoto's thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid inflammation rich in IgG4-positive plasma cells and marked fibrosis. It may be part of the systemic IgG4-related disease. We report a case of a 56-year-old Portuguese man who presented with a one-month history of progressive neck swelling and dysphagia. Laboratory testing revealed increased inflammatory parameters, subclinical hypothyroidism and very high levels of thyroid autoantibodies. Cervical ultrasound (US) demonstrated an enlarged and heterogeneous thyroid gland and two hypoechoic nodules. US-guided fine needle aspiration cytology was consistent with lymphocytic thyroiditis. The patient was submitted to total thyroidectomy and microscopic examination identified typical findings of HT, marked fibrosis limited within the thyroid capsule and lymphoplasmacytic infiltration, with >50 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of >40%. After surgery, serum IgG4 concentration was high-normal. Symptoms relief and reduction in laboratory inflammatory parameters were noticed. Thyroid function is controlled with levothyroxine. To our knowledge we report the first case of IgG4-related HT in a non-Asian patient. We also perform a review of the literature regarding IgG4-related disease and IgG4-related HT. Our case highlights this new variant of the well known HT, and helps physicians in recognizing its main clinical features, allowing for proper diagnosis and treatment.

Dor à Palpação da Tiróide

A 37-years-old woman, complaining of fever, malaise, myalgia, sore throat and dysphagia lasting for 15 days, had been taking antibiotics and paracetamol for 7 days, without symptoms' improvement. The clinical examination revealed hyperaemic oropharynx and enlarged, painful thyroid. Further exams showed increased analytic inflammatory serum parameters as well as thyrotoxicosis. The thyroid gland had heterogeneous echostructure, with markedly hypoechoic areas and significant capsular oedema as well as decreased radionuclide uptake in the scintigraphy. Both symptoms and imaging improved with paracetamol and ibuprofen. Thyroid gland function normalized in two months. The patient remains in follow-up. This case reports the clinical features of subacute or De Quervain's thyroiditis. The differential medical approach to the patient with painful thyroid palpation is discussed. The diagnosis is essentially clinic, highlighting the importance of a rigorous physical exam. These patients' follow-up is required, considering the clinical and analytic progression.

Hipotiroidismo Associado a Anticorpos Anti-Receptor da Hormona TSH com Ação Bloqueadora Determinada In Vitro

Thyroid-stimulating hormone-receptor autoantibodies normally causes hyperthyroidism. However, they might have blocking activity causing hypothyroidism. A 11-year-old girl followed due to type 1 diabetes mellitus, celiac disease and euthyroid lymphocytic thyroiditis at diagnosis. Two years after the initial evaluation, thyroid-stimulating hormone was suppressed with normal free T4; nine months later, a biochemical evolution to hypothyroidism with thyroid-stimulating hormone-receptor autoantibodies elevation was seen; the patient remained always asymptomatic. Chinese hamster ovary cells were transfected with the recombinant human thyroid-stimulating hormone -receptor, and then exposed to the patient's serum; it was estimated a 'moderate' blocking activity of these thyroid-stimulating hormone-receptor autoantibodies, and concomitantly excluded stimulating action. In this case, the acknowledgment of the blocking activity of the serum thyroid-stimulating hormone-receptor autoantibodies, supported the hypothesis of a multifactorial aetiology of the hypothyroidism, which in the absence of the in vitro tests, we would consider only as a consequence of the destructive process associated to lymphocytic thyroiditis.