RESUMO
Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, two of which were associated with TAA and one with AD. Segregation analysis showed that the distribution of these vascular abnormalities was more likely compatible with a single genetic defect with an autosomal dominant pattern of inheritance. There were no clinical signs of Marfan, Elhers-Danlos vascular type or Char syndromes. Genetic linkage analysis was performed for seven genes or loci implicated in familial TAA/AD disease (COL3A1, FBN1, 3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-q24), Char syndrome (TFAP2B) or autosomal recessive PDA (12q24). Using different genetic models, linkage with these seven loci was excluded. Familial TAA/AD with PDA is likely to be a particular heritable vascular disorder, with an as yet undiscovered Mendelian genetic basis.
Assuntos
Aneurisma da Aorta Torácica/complicações , Aneurisma da Aorta Torácica/genética , Dissecção Aórtica/complicações , Dissecção Aórtica/genética , Permeabilidade do Canal Arterial/genética , Permeabilidade do Canal Arterial/fisiopatologia , Dissecção Aórtica/fisiopatologia , Aneurisma da Aorta Torácica/fisiopatologia , Morte Súbita/etiologia , Permeabilidade do Canal Arterial/complicações , Feminino , França , Ligação Genética/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Linhagem , Acidente Vascular Cerebral/complicaçõesRESUMO
BACKGROUND: Chronic heart failure (CHF) is a frequent severe disease. Disease-management programmes, which contain a therapeutic patient education component, will play a central role in improving delivery of care and reducing mortality and hospitalizations for CHF. AIMS: In order to have an up-to-date overview of medical treatment of CHF in France implemented by hospital and clinic cardiologists especially interested in CHF and therapeutic patient education, we described the prescription of cardiovascular drugs in the large ODIN cohort of CHF patients, according to age and type of CHF. METHODS: From 2007 to 2010 (median follow-up 27.2 months), CHF patients were prospectively enrolled in a multicentre 'real-world' French cohort by centres previously trained in therapeutic patient education. Patients were grouped according to age (< 60 years, 60 to<70 years, 70 to<80 years and ≥ 80 years) and type of CHF (characterized by level of LVEF: reduced, borderline or preserved). Medical prescription was described and mortality was assessed at long-term follow-up. RESULTS: The cohort consisted of 3237 patients (67.6 years; 69.4% men). The oldest age group had the highest LVEF. Blockers of the angiotensin-aldosterone system were prescribed progressively and significantly less frequently as the population advanced in age or as LVEF was more preserved. The mean dosages of the main prescribed CHF drugs remained ≥ 50% lower than those recommended for most drugs in all age and LVEF groups. Drug prescriptions were related to aetiology of reduced or preserved CHF. A global decrease in CHF drug prescription was observed for all medication classes except calcium blockers, according to maintenance of relatively or totally preserved LVEF. Survival was related to age but not to type of CHF. CONCLUSION: In CHF, and despite management by cardiologists particularly interested in CHF and specifically trained to deliver therapeutic patient education, medical prescription differed substantially from guidelines. Age and type of CHF (reduced versus preserved) appeared to be important factors in lack of adherence to guidelines. However, only age influenced mortality; the type of CHF did not affect survival.
Assuntos
Fármacos Cardiovasculares/uso terapêutico , Prescrições de Medicamentos , Insuficiência Cardíaca/tratamento farmacológico , Padrões de Prática Médica , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Prescrições de Medicamentos/normas , Revisão de Uso de Medicamentos , Feminino , França , Fidelidade a Diretrizes , Insuficiência Cardíaca/classificação , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/fisiopatologia , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Padrões de Prática Médica/normas , Sistema de Registros , Volume Sistólico , Fatores de Tempo , Resultado do Tratamento , Função Ventricular Esquerda/efeitos dos fármacosRESUMO
Suicide by ingestion of barium is exceptionally rare. Adverse health effects depend on the solubility of the barium compound. Severe hypokalemia, which generally occurs within 2 hours after ingestion, is the predominating feature of acute barium toxicity, subsequently leading to adverse effects on muscular activity and cardiac automaticity. We report one case of acute poisoning with barium nitrate, a soluble barium compound. A 75-year-old woman was hospitalized after suicidal ingestion of a burrow mole fumigant containing 12.375 g of barium nitrate. About 1 hour post-ingestion, she was only complaining of abdominal pain. The ECG recording demonstrated polymorphic ventricular premature complexes (VPCs). Laboratory data revealed profound hypokalemia (2.1 mmol/L). She made a complete and uneventful recovery after early and massive potassium supplementation combined with oral magnesium sulphate to prevent barium nitrate absorption.