Clinical Approach to Sudden Cardiac Death Syndromes 2010th Edition PDF ebook Free
Clinical Approach to Sudden Cardiac Death Syndromes 2010th Edition PDF Download
By Josep Brugada (Adapter), Pedro Brugada (Adapter), Ramon Brugada (Editor)
Clinical cardiologists are encountering an important challenge in the caring of families with inherited cardiac diseases. The majority of the inherited cardiac diseases causing sudden death express themselves at variable ages in the form of altered muscle function (i.e hypertrophic or dilated cardiomyopathy) or in the form of arrhythmias (i.e. Brugada syndrome, long QT syndrome). However, it is not uncommon that the first sign of the disease may actually be sudden cardiac death, even before the identification of clear clinical abnormalities. In this last decade, with more than 50 new disease-associated genes identified, the possibility of genetic testing has opened a new opportunity to disease diagnosis and prevention. Clinical and genetic research is continuously on-going not only to identify those at risk, but to better define their level or risk still with limited success.
- Hardcover:340 pages
- Publisher:Springer; 2010 edition (January 12, 2010)
Much has changed in the field of arrhythmias and sudden cardiac death in these last decades. Successful innovative catheter therapies and protective devices have been determinant in enhancing treatment and prevention strategies of individuals at risk. However, despite the advances, sudden cardiac death still remains a major contributor to mortality in our society. While most deaths occur in adult cases and are associated with ischemic heart disease, occasionally the youngest and the fittest, even those who have become our role models for their athletic abilities, may also die suddenly, usu- ally from noncoronary cardiac causes. It has not been until the advent of molecular biology and genetics in cardiology when we have been able to further deepen in our knowledge of these dreadful events in the young. In the last 20 years, genetic research in subjects and families with sudden cardiac death syndromes has brought a vast amount of information on genetic defects respon- sible for arrhythmogenesis, improving our understanding on how the abnormally codified proteins are involved in the pathogenesis of a disease and how this protein disrupts the myocyte electrical activity, generates a chaotic rhythm, and predisposes to ventricular fibrillation. Inherited sudden cardiac death syndromes are indeed rare diseases, much rarer than hypertension or coronary artery disease. However, it is highly likely that as phy- sicians we will at some point encounter a patient with one of these genetic diseases, and we have to be aware of at least two clinical implications. First, the field of cardiac genetics has brought a new tool, genetic screening, which is presently standing out as a key diagnostic test, complementing the highly sophisti- cated, but often inaccurate, clinical instruments. With the use of genetic information in our practice, we have moved the information from the bench to the bedside, from research to clinical care, translational medicine at its best. Second, cardiac genetics is also bringing a fundamental change for our clinical practice, which is not to be taken lightly. With the care for patients with inherited arrhythmias, we have gone from facing the single patient to facing the family, from one individual with signs and symptoms of a disease to several family members with a genetic defect. Familial global care is a tremendous and complex new task that includes genetic screening, treatment decisions especially difficult in children, child- bearing choices, disease expression, and genetic penetrance. The family, with all its complexity, cannot be assumed by the lone physician but only by a multidisciplinary team of geneticists, cardiologists, psychologists, and genetic counselors.