Cardiovascular Disease

Nabel, Elizabeth G.

doi:10.1056/nejmra035098

Cited by 397 publications

(229 citation statements)

References 85 publications

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“…formation or destruction are of significant importance (Fuster, 1994;Epstein, 1996;Nabel, 2003). As discussed below, most of the common pathologies of the cardiovascular system result in deleterious consequences, in large part, due to abnormalities of coagulation.…”

Section: Pathologies Of Clot Formationmentioning

confidence: 99%

A Model Incorporating Some of the Mechanical and Biochemical Factors Underlying Clot Formation and Dissolution in Flowing Blood

Mohan

Rajagopal

2003

Computational and Mathematical Methods in Medicine

140

121

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Multiple interacting mechanisms control the formation and dissolution of clots to maintain blood in a state of delicate balance. In addition to a myriad of biochemical reactions, rheological factors also play a crucial role in modulating the response of blood to external stimuli. To date, a comprehensive model for clot formation and dissolution, that takes into account the biochemical, medical and rheological factors, has not been put into place, the existing models emphasizing either one or the other of the factors. In this paper, after discussing the various biochemical, physiologic and rheological factors at some length, we develop a model for clot formation and dissolution that incorporates many of the relevant crucial factors that have a bearing on the problem. The model, though just a first step towards understanding a complex phenomenon, goes further than previous models in integrating the biochemical, physiologic and rheological factors that come into play.

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Section: Pathologies Of Clot Formationmentioning

confidence: 99%

A Model Incorporating Some of the Mechanical and Biochemical Factors Underlying Clot Formation and Dissolution in Flowing Blood

Mohan

Rajagopal

2003

Computational and Mathematical Methods in Medicine

140

121

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“…Familial cardiomyopathies are usually detected through the clinical setting, an echocardiogram, and the presence of a family history showing dominant inheritance. 122,123 An extended family pedigree for a patient with heart failure not associated with a familial cardiomyopathy may be useful in the research setting but has no place in general medical care, and referral to a genetics clinic for this type of heart failure is not warranted at the present time. Furthermore, testing for the various genetic polymorphisms discussed in this review is not indicated in the routine evaluation of a patient with heart failure not associated with a cardiomyopathy.…”

Section: Clinical Applicationmentioning

confidence: 99%

Genetic polymorphisms and heart failure

Bleumink

Schut

Sturkenboom

et al. 2004

Genetics in Medicine

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Heart failure is a complex clinical syndrome. There is evidence for a genetic contribution to the pathophysiology of heart failure. Considering the fundamental role of neurohormonal factors in the pathophysiology and progression of cardiac dysfunction and hypertrophy, variants of genes involved in this system are logical candidate genes in heart failure. In this report, genetic polymorphisms of the major neurohormonal systems in heart failure will be discussed. Studies on polymorphisms of the renin-angiotensin-aldosterone system (RAAS), adrenergic receptor polymorphisms, endothelin (receptor) polymorphisms, and a group of miscellaneous polymorphisms that may be involved in the development or phenotypic expression of heart failure will be reviewed. Research on left ventricular hypertrophy is also included. The majority of genetic association studies focused on the ACE I/D polymorphism.Initial genetic associations have often been difficult to replicate, mainly due to problems in study design and lack of power. Promising results have been obtained with genetic polymorphisms of the RAAS and sympathetic system.Considering the evidence so far, a modifying role for these polymorphisms seems more likely than a role of these variants as susceptibility genes. Besides the need for larger studies to examine the effects of single nucleotide polymorphisms and haplotypes, future studies also need to focus on the complexity of these systems and study Heart failure is a complex clinical syndrome with high morbidity and mortality. 1,2 Impairment of cardiac function activates compensatory neurohormonal mechanisms, which at a later stage may accelerate progression of heart failure. 3 Coronary heart disease and hypertension are major underlying causes of heart failure. Other frequent underlying conditions include valvular heart disease and idiopathic dilated cardiomyopathy. It is difficult to predict who will develop heart failure in response to myocardial injury. Racial differences in occurrence and outcome of heart failure 4,5 and heritability estimates of variability in left ventricular mass of 28% to 65% 6,7 suggest a genetic contribution to the pathophysiology of left ventricular remodeling and heart failure.Many studies have been published on the role of single gene mutations in (familial) cardiomyopathies. 8,9 These Mendelian traits are by nature rare, and although important at an individual level and for the understanding of disease mechanisms, are of limited significance in terms of prediction of heart failure occurrence in the population. 10 Moreover, in patients with identical gene mutations clinical manifestations of cardiomyopathy may differ. This suggests that probably also environmental and/or other genetic factors play a role.In this report, genetic polymorphisms of major neurohormonal systems involved in the pathophysiology of heart failure will be discussed, including the renin-angiotensin-aldosterone system (RAAS), adrenergic receptor polymorphisms, endothelin (receptor) polymorphisms, and a group of miscellaneous...

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“…Many believe that knowledge of the genes contributing to disease development and progression will provide new opportunities for stratifying people by their individual disease risk, identifying novel therapeutic targets, and tailoring management strategies based on inherent genetic characteristics [2][3][4]. Thus far, the effort to pinpoint the genetic component of CHD has been difficult owing to the complex nature of the disease, but the application of new genomic methods provides hope of ultimate success.…”

Section: Introductionmentioning

confidence: 99%

“…Atherosclerotic CHD results from the interaction between an individual's genetic make up and environmental factors such as smoking and diet [3,5]. There are rare Mendelian disorders for which single gene changes lead to accelerated atherosclerosis such as familial hypercholesterolemia.…”

Section: Introductionmentioning

confidence: 99%

Cardiovascular Genetic Medicine: The Genetics of Coronary Heart Disease

Seo

Goldschmidt‐Clermont

2008

J. of Cardiovasc. Trans. Res.

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Advances in genomic technologies have provided researchers with an unprecedented opportunity to identify genes that may contribute to the development of coronary heart disease. The power of these technologies lies in their ability to survey the entire genome in a nonbiased fashion to find genes and gene variants associated with coronary heart disease. This article reviews different genomic approaches for studying coronary heart disease and the clinical implications of using genetic information.

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Cardiovascular Disease

Cited by 397 publications

References 85 publications

A Model Incorporating Some of the Mechanical and Biochemical Factors Underlying Clot Formation and Dissolution in Flowing Blood

A Model Incorporating Some of the Mechanical and Biochemical Factors Underlying Clot Formation and Dissolution in Flowing Blood

Genetic polymorphisms and heart failure

Cardiovascular Genetic Medicine: The Genetics of Coronary Heart Disease

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