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1.
Heart ; 105(8): 603-608, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30322846

RESUMO

OBJECTIVE: Bicuspid aortic valve (BAV) is the most common congenital heart disease. This study aimed to determine the prevalence rate of BAV in first-degree relatives (FDR) and the inheritance pattern according to different morphotypes and aortic dilation. METHODS: BAV probands were consecutively studied at eight tertiary referral centres. After sequential screening, FDR were included in the study. The BAV morphotype, aortic dilation and aortic phenotype were assessed by transthoracic echocardiography. RESULTS: Seven hundred and twenty-four FDR of 256 BAV probands agreed to undergo family screening. The prevalence of BAV was 6.4% in FDR (9.2% in men, 3.5% in women, p=0.002). Aortic dilation was diagnosed in 9.6% of FRD with tricuspid aortic valves (TAV), with a root phenotype in 2.7% and tubular in 6.9% and more frequently in the presence of arterial hypertension (OR 4.48; CI 95% 2.51 to 7.99; p=0.0001) and valvular regurgitation (OR 5.87, CI 95% 1.37 to 25.16; p=0.025). The heritability (h2 ) of BAV was highly significant (0.47; p=0.002); however, no concordance was observed among valve morphotypes. Aortic dilation heritability was not significant. CONCLUSIONS: The BAV prevalence rate in FDR was low (6.4%) but aortic dilation was observed in 9.6% of FDR with TAV. The heritability of BAV was high without concordance in valve morphotypes, and aortic dilation heritability was not observed. Patients with BAV should be made aware of its familial pattern.


Assuntos
Aorta , Doenças da Aorta , Valva Aórtica/anormalidades , Família , Doenças das Valvas Cardíacas , Adulto , Aorta/anormalidades , Aorta/diagnóstico por imagem , Aorta/patologia , Doenças da Aorta/diagnóstico , Doenças da Aorta/etiologia , Doenças da Aorta/fisiopatologia , Valva Aórtica/fisiopatologia , Doença da Válvula Aórtica Bicúspide , Variação Biológica da População , Análise por Conglomerados , Dilatação Patológica/diagnóstico por imagem , Dilatação Patológica/etiologia , Dilatação Patológica/fisiopatologia , Ecocardiografia/métodos , Saúde da Família/estatística & dados numéricos , Feminino , Doenças das Valvas Cardíacas/complicações , Doenças das Valvas Cardíacas/diagnóstico , Doenças das Valvas Cardíacas/epidemiologia , Doenças das Valvas Cardíacas/fisiopatologia , Humanos , Padrões de Herança , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Análise de Sequência/métodos , Espanha/epidemiologia
2.
Eur J Intern Med ; 55: 40-46, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29778589

RESUMO

INTRODUCTION: The coexistence of significant mitral regurgitation (MR) and severe aortic stenosis is prevalent, has a prognostic impact and makes treatment in the elderly population a complex issue. The aim of this study is to determine the prevalence of significant MR among a population of octogenarians and its influence on treatment and prognosis. METHODS: We used the data from PEGASO (Pronóstico de la Estenosis Grave Aórtica Sintomática del Octogenario), a prospective registry that consecutively included 928 patients aged ≥80 years with severe symptomatic aortic stenosis. RESULTS: The prevalence of significant MR was 8.5% (79 patients) and independently associated with the decision to treat conservatively (odds ratio = 2.28, 95% confidence interval: 1.31-3.95, p = 0.003). The group of patients with significant MR had higher overall mortality at 12 months follow-up (51.9% vs 25%, p < 0.001), which remained on division into subgroups based on the presence of comorbidities (Charlson<5: 49.2% vs 21.9%, p < 0.001; and Charlson ≥5: 62.5% vs 41.7%, p = 0.07). Within the group of patients in whom conservative treatment was performed, those with significant MR had higher mortality at one year (62.7% vs 35%, p < 0.001). MR was a significant independent predictor of overall mortality at 12-month follow-up (hazard ratio = 1.87, 95% confidence interval: 1.09-3.18, p = 0.022). CONCLUSIONS: Significant MR has a high prevalence and worsens the prognosis of octogenarian patients with severe symptomatic aortic stenosis, especially in patients with conservative treatment, independently of the existence of comorbidities.


Assuntos
Estenose da Valva Aórtica/mortalidade , Tratamento Conservador , Insuficiência da Valva Mitral/complicações , Idoso de 80 Anos ou mais , Estenose da Valva Aórtica/terapia , Comorbidade , Feminino , Implante de Prótese de Valva Cardíaca/efeitos adversos , Humanos , Masculino , Análise Multivariada , Prognóstico , Estudos Prospectivos , Sistema de Registros , Índice de Gravidade de Doença , Espanha , Análise de Sobrevida
3.
Int J Cardiol ; 189: 61-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25885873

RESUMO

BACKGROUND: The benefit from intervention in elderly patients with symptomatic severe aortic stenosis (AS) and high comorbidity is unknown. Our aims were to establish the correlation between the Charlson comorbidity index and the prognosis of octogenarians with symptomatic sever AS and to identify patients who might not benefit from intervention. METHODS: We used the data from PEGASO (Pronóstico de la Estenosis Grave Aórtica Sintomática del Octogenario--Prognosis of symptomatic severe aortic stenosis in octogenarians), a prospective registry that included consecutively 928 patients aged ≥ 80 years with severe symptomatic AS. RESULTS: The mean Charlson comorbidity index was 3.0 ± 1.7, a total of 151 patients (16.3%) presented high comorbidity (index ≥ 5). Median survival was lower for patients with high comorbidity than for those without (16.7 ± 1.2 vs. 26.5 ± 0.6 months, p < 0.001). In patients without high comorbidity planned interventional management was clearly associated with prognosis (log rank p < 0.001), which was not the case in patients with high comorbidity (log rank p > 0.10). In multivariate analysis, the only variables that were independently associated with prognosis were planned medical management and Charlson index. Patients with high comorbidity presented non-cardiac death more frequently than those who had not (28.6% vs. 19.5%, p = 0.008). CONCLUSIONS: One sixth of octogenarians with symptomatic severe AS have very high comorbidity (Charlson index ≥ 5). These patients have a poor prognosis in the short term and do not seem to benefit from interventional treatment.


Assuntos
Estenose da Valva Aórtica/epidemiologia , Estenose da Valva Aórtica/cirurgia , Comorbidade , Sistema de Registros , Substituição da Valva Aórtica Transcateter/métodos , Idoso de 80 Anos ou mais , Análise de Variância , Estenose da Valva Aórtica/diagnóstico por imagem , Ecocardiografia Doppler , Feminino , Seguimentos , Avaliação Geriátrica , Humanos , Masculino , Modelos de Riscos Proporcionais , Estudos Prospectivos , Medição de Risco , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Taxa de Sobrevida , Substituição da Valva Aórtica Transcateter/mortalidade , Resultado do Tratamento
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