Browsing by Author "Rocha, S"
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- Anomalia de Ebstein: um caso com uma evolução inesperadaPublication . Moura, MC; Rocha, S; Ferreira, M; Nunes, MA; Magalhães, MPA anomalia de Ebstein da válvula tricúspide é uma cardiopatia congénita complexa rara. A etiologia é desconhecida e, na maioria dos casos parece ser multifactorial. A mortalidade no período neonatal é alta. Os autores apresentam um caso clínico de anomalia de Ebstein grave com diagnóstico pré-natal. No período perinatal efectuou-se um shunt de Blalock-Taussig modificado à esquerda e aos cinco meses de vida foi submetida a valvuloplastia pulmonar percutânea com sucesso. A evolução clínica tem sido favorável tendo-se optado por não efectuar operação de Glenn. Actualmente com 18 meses de vida encontra-se assintomática. Ebstein’s anomaly of the tricuspid valve is a rare and complex congenital heart defect. Its etiology is unknown and in the majority of cases it is multifactorial. Mortality in the neonatal period is high. The authors present a case of severe Ebstein’s anomaly diagnosed antenatally. In the perinatal period a Blalock-Taussig shunt was performed and at the age of five months the infant underwent successful percutaneous pulmonary valvuloplasty. The clinical outcome has been favorable and we decided to postpone a Glenn procedure. At 18 months the child is asymptomatic.
- Esclerosis múltiple y decisión de la maternidad: estudio observacional en pacientes portuguesasPublication . Carvalho, A; Veiga, A; Morgado, J; Tojal, R; Rocha, S; Vale, J; Sá, MJ; Timóteo, AIntroducción. La esclerosis múltiple (EM) es una enfermedad incapacitante que afecta mayoritariamente a mujeres en edad fértil. La EM puede alterar el deseo de crear una familia y concebir hijos. Objetivo. Estudiar la influencia del diagnóstico de la EM y de su evolución sobre la decisión de ser madre. Pacientes y métodos. Se seleccionó una cohorte integrada por pacientes de 35-45 años diagnosticadas de EM desde hacía por lo menos 10 años que eran atendidas en seis centros portugueses. Las participantes respondieron a un cuestionario estructurado en días de consulta consecutivos. Se revisaron las historias clínicas para caracterizar y recabar información sobre la enfermedad y los embarazos. Resultados. Participaron 100 mujeres; la media de edad en el momento del diagnóstico de la EM era de 26,3 ± 5,0 años; el 90% de las participantes presentaba la forma remitente recurrente; el 57% de las pacientes no se habían quedado embarazadas después del diagnóstico. El tipo de EM y el número de recidivas no difirieron de manera significativa entre las mujeres que habían concebido después del diagnóstico y las que no (p = 0,39 y p = 0,50, respectivamente). El 77% no había tenido el número de hijos deseado. Los principales motivos aducidos fueron el temor a la incapacidad futura y la posibilidad de sufrir recidivas. Cuarenta y tres mujeres creían que el embarazo podía agravar la EM. Conclusión. En la población del estudio, la decisión de ser o no ser madre no guardó relación con el tipo de EM ni con el número de recidivas. No obstante, un número relevante de mujeres tuvieron menos embarazos de los que habían desea- do antes de ser diagnosticadas y pensaban que la gestación podía empeorar la enfermedad. Sería conveniente mejorar la información que reciben estas pacientes a fin de minimizar el impacto del diagnóstico de la EM en la decisión de ser madre.
- Multiple sclerosis and motherhood choice: an observational study in Portuguese women patients.Publication . Carvalho, A; Veiga, A; Morgado, J; Tojal, R; Rocha, S; Vale, J; Sa, MJ; Timoteo, AINTRODUCTION. Multiple sclerosis (MS) is a disabling disease occurring mainly in women of childbearing age. MS may interfere with family planning and motherhood decision. AIM. To study the influence of MS diagnosis and course of the disease on motherhood decision. PATIENTS AND METHODS. The cohort of 35 to 45-year-old female patients diagnosed with MS for at least ten years was selected from six Portuguese MS centers. A structured questionnaire was applied to all patients in consecutive consultation days. Clinical records were reviewed to characterize and collect information about the disease and pregnancies. RESULTS. One hundred women were included; mean age at MS diagnosis was 26.3 ± 5.0 years; 90% of the participants presented with a relapsing-remitting MS; 57% had no pregnancies after the diagnosis. MS type and number of relapses were not significantly different between women with or without pregnancies after the diagnosis (p = 0.39 and p = 0.50, respectively). Seventy-seven percent of the patients did not have the intended number of pregnancies. Main reasons given were fear of future disability and the possibility of having relapses. Forty-three women considered that pregnancy might worsen MS. CONCLUSION. In our population, motherhood choice was unrelated to the MS type and the number of relapses. However, a relevant number of women had fewer pregnancies than those intended before MS diagnosis and believed that pregnancy could worsen the disease. An effort to better inform the patients should be made to minimize the impact of MS diagnosis on motherhood decision.
- Senile Systemic Amyloidosis: An Underdiagnosed Disease.Publication . Manso, M; Marques, D; Rocha, S; Rodeia, S; Domingos, RSenile systemic amyloidosis is caused by a non-mutated form of transthyretin with the heart being the major organ involved. This infiltrative cardiomyopathy usually presents as slowly progressive heart failure. An 82-year-old female patient was admitted for newly diagnosed heart failure. A year later she presented with decompensated heart failure and syncope. Inpatient work-up showed persistently elevated troponin and N-terminal-pro BNP levels, rapid progression to severe left ventricular concentric hypertrophy, and sinus pauses on the Holter. Cardiac MRI revealed diffuse late gadolinium enhancement in the left ventricle. The demonstration of amyloid protein with the clinical findings and complementary investigations allowed for the diagnosis of senile systemic amyloidosis. LEARNING POINTS: Senile systemic amyloidosis is a rare disease with a common clinical presentation that is probably underdiagnosed in patients with heart failure with preserved systolic function.A new unexplained heart failure diagnosis, increased ventricular wall thickness and particularly low voltage on the ECG should raise the suspicion of cardiac amyloidosis.Histopathological evidence of amyloid deposition elsewhere and typical advanced imaging features can support the diagnosis, rendering endomyocardial biopsy no longer mandatory.