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1.
Cardiol Rev ; 30(4): 206-213, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33758125

RESUMO

Genetic testing for cardiovascular (CV) disease has had a profound impact on the diagnosis and evaluation of monogenic causes of CV disease, such as hypertrophic and familial cardiomyopathies, long QT syndrome, and familial hypercholesterolemia. The success in genetic testing for monogenic diseases has prompted special interest in utilizing genetic information in the risk assessment of more common diseases such as atherosclerotic cardiovascular disease (ASCVD). Polygenic risk scores (PRS) have been developed to assess the risk of coronary artery disease, which now include millions of single-nucleotide polymorphisms that have been identified through genomewide association studies. Although these PRS have demonstrated a strong association with coronary artery disease in large cross-sectional population studies, there remains intense debate regarding the added value that PRS contributes to existing clinical risk prediction models such as the pooled cohort equations. In this review, we provide a brief background of genetic testing for monogenic drivers of CV disease and then focus on the recent developments in genetic risk assessment of ASCVD, including the use of PRS. We outline the genetic testing that is currently available to all cardiologists in the clinic and discuss the evolving sphere of specialized cardiovascular genetics programs that integrate the expertise of cardiologists, geneticists, and genetic counselors. Finally, we review the possible implications that PRS and pharmacogenomic data may soon have on clinical practice in the care for patients with or at risk of developing ASCVD.


Assuntos
Aterosclerose , Doenças Cardiovasculares , Doença da Artéria Coronariana , Aterosclerose/diagnóstico , Aterosclerose/epidemiologia , Aterosclerose/genética , Cardiologistas , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/genética , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/genética , Estudos Transversais , Humanos , Medição de Risco , Fatores de Risco
2.
Circ Cardiovasc Interv ; 12(9): e006071, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31510774

RESUMO

Out of hospital cardiac arrest (OHCA) is a major cause of morbidity and mortality worldwide. Clinical decision making is extremely difficult in this understudied patient population with high prevalence of neurological injury and inexorable shock states. As such, there are uncertain benefits from therapies available in the cardiac catheterization laboratory. Fear of futility and public reporting often affects decision making and can result in risk aversion. This review focuses on invasive management in OHCA care, with particular focus on coronary angiography, coronary revascularization, and mechanical support. Guidelines recommend emergency coronary angiography in patients with ST-segment elevations on ECG after OHCA, while the role of coronary angiography in patients without ST-segment elevations is less clear. Similar uncertainty remains in the appropriate revascularization strategy in these patients. As in other areas of cardiology, there is a growing interest in the role of mechanical circulatory support after OHCA, though the available literature shows mixed results. The many uncertainties associated with treating the patient with OHCA highlight the importance of clinical decision support tools and treatment algorithms in the care of this population. This review focuses on invasive management in OHCA care, with particular focus on coronary angiography, coronary revascularization, and mechanical support.


Assuntos
Cateterismo Cardíaco , Doença da Artéria Coronariana/terapia , Coração Auxiliar , Revascularização Miocárdica , Parada Cardíaca Extra-Hospitalar/terapia , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/mortalidade , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/mortalidade , Doença da Artéria Coronariana/fisiopatologia , Humanos , Revascularização Miocárdica/efeitos adversos , Revascularização Miocárdica/mortalidade , Parada Cardíaca Extra-Hospitalar/diagnóstico por imagem , Parada Cardíaca Extra-Hospitalar/mortalidade , Parada Cardíaca Extra-Hospitalar/fisiopatologia , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Fatores de Risco , Resultado do Tratamento
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