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Fabry Disease: New Diagnosis of a Family

Sousa, Débora; Gonçalves, Bebiana; Bayão, Alexandra

Fabry’s disease is a rare inherited disease, linked to the X chromosome, that results from a deficiency of alfa‐galactosidase A activity. We report the case of a 59-year-old -man admitted in the emergency department after a fall herald by chest pain. Cardiac ultrasound showed exuberant left ventricle hypertrophy and complementary study with cardiac magnetic resonance showed intramyocardial fibrosis. The rest of...


LEVOSIMENDAN IN SINGLE VENTRICLE HEART FAILURE AFTER LONGTERM SURVIVAL OF A MOD...

Tavares, João; Baptista, Bernardo; Sarmento, Pedro; Gonçalves, Bebiana; Abecassis, Miguel

We report the case of a 44 year-old patient with complex ACHD, admitted with acute decompensated heart failure (ADHF) in hemodynamic profile B. He had a single ventricle with pulmonary atresia, previously submitted to three modified Blalock-Taussig shunts (mBTs) at the age of 2, 12 and 19 years old. Despite conventional treatment with diuretics, β-blockers (BB) and isosorbide dinitrate the patient progressed to...


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