Mónica Mendes Pedro

Severe Rheumatic Mitral Stenosis: A 21st Century Medusa

Although the prevalence of rheumatic fever has greatly decreased in developed countries, rheumatic mitral stenosis still causes significant morbidity and mortality. Symptomatic patients have a poor prognosis, with a 0 to 15% 10-year survival rate, particularly if percutaneous or surgical intervention are contraindicated or considered high risk. We present a case of severe rheumatic mitral stenosis with an evolution over 4 decades, in which exceptional venous distention has established.

Hypertriglyceridemia: Is there a role for prophylactic apheresis? A case report

Severe hypertriglyceridemia has been consistently associated with an increased risk of cardiovascular disease and other complications, namely acute pancreatitis. We report a case of a 64 year-old woman with hypertrophic cardiomyopathy and metabolic syndrome with triglyceride level of 3260 mg/dL. Plasma exchange was performed with simultaneous medical treatment to achieve a rapid and effective lowering of triglycerides in order to prevent clinical complications. After three plasmapheresis sessions a marked reduction in triglyceride and total cholesterol levels was observed. Several cases have shown the importance of plasmapheresis in the treatment of acute pancreatitis. We intend to demonstrate the applicability of this technique as primary prophylaxis in the presence of extremely high serum triglyceridemia levels. Resumo A hipertrigliceridemia grave tem sido associada de forma consistente ao aumento do risco cardiovascular e a outras complicações, nomeadamente, pancreatite aguda. Descrevemos um caso de uma mulher de 64 anos, com miocardiopatia hipertrófica e síndrome metabólica com valor sérico de triglicerídeos de 3260 mg/dL. Foi efectuada plasmaferese e optimizado o tratamento médico para alcançar uma redução rápida e efectiva dos níveis dos triglicerídeos, prevenindo complicações clínicas. Após três sessões de plasmaferese, verificou-se uma redução marcada dos triglicerídeos e do colesterol total. Existem alguns casos descritos na literatura demonstrado a importância da plasmaferese no tratamento da pancreatite aguda em contexto de hipertrigliceridemia grave. Os autores pretendem com este caso demonstrar a aplicabilidade desta técnica em contexto de prevenção primária em doentes com níveis de triglicerídeos extremamente aumentados.

Angiosarcoma associated with a vascular graft: Case report

We describe a case of retroperitoneal angiosarcoma in association with an aorta-bifemoral Dacron graft. Surgery was not performed and the patient died. At autopsy, a local extensive, high-grade angiosarcoma was confirmed and a left pulmonar metastase was found. A sarcoma should always be considered in the differential diagnosis of any mass associated with vascular grafts, and an extensive investigation of possible and unsuspected distant metastasis is mandatory in all cases.

Dangerous mistake: an accidental caffeine overdose

Caffeine (1,3,7-trimethylxanthine) is a natural product commonly presented in food’s composition, beverages and medicinal products. Generally, it is thought to be safe under normal dosage, yet it can be fatal in case of severe intoxication. We report a case of a healthy 32-year-old woman who went to the local emergency department (ED) 30 min after ingesting, accidentally, 5000 mg of anhydrous caffeine for a preworkout supplement. At the ED, she presented an episode of presyncope followed by agitation. ECG showed polymorphic broad complex QRS tachycardia and arterial blood gas revealed metabolic acidaemia with severe hypokalemia. The dysrhythmia was successfully treated with intravenous propranolol. Acid–base and hydroelectrolytic disorders were also corrected. A persistent sinus tachycardia was observed in the first 2 days in the ward and 5 days later she was discharged asymptomatic with internal medicine follow-up.

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes. A 64-year-old woman with hypertrophic cardiomyopathy and a point mutation in exon 11 of the LMNA gene (c.1718C>T, Ser573Leu) presented with severe symptomatic ventricular hypertrophy and left ventricular outflow tract obstruction. She underwent septal alcohol ablation, followed by Morrow myectomy. The patient was also diagnosed with severe dyslipidemia, diabetes and obesity, and fulfilled diagnostic criteria for metabolic syndrome. No other characteristics of LMNA mutation-related phenotypes were identified. The development of type III atrioventricular block with no apparent cause, and mildly depressed systolic function, prompted referral for cardiac resynchronization therapy. In conclusion, the association between LMNA mutations and different phenotypes is complex and not fully understood, and can present with a broad spectrum of severity.