The Clinical Significance of Genetic Testing in Familial Hypertrophic Cardiomyopathy
Over the past decade there has been substantial progress in understanding the molecular basis of several inherited cardiovascular disorders. Definition of the chromosome location of disease genes, identification of these genes, and characterization of different mutations within these disease genes has been the focus of many, molecular laboratories around the world. Translation of this new, fundamental genetic knowledge about human disorders, into improved clinical diagnosis and care of individuals affected by these disorders has become a new frontier in medicine. This translation is often hampered by a limited understanding by physicians of the difficulties of molecular genetic technologies and a failure by researchers to comprehend the complexities of clinical manifestations of disease. Despite these intrinsic problems, the effort of integrating basic science and medicine in hypertrophic cardiomyopathy has particular merit because the complex molecular genetics of this disease may account for the diverse clinical manifestations of this pathology. The paper will review our current understanding of the genetic basis for hypertrophie cardiomyopathy and discuss the impact this research has on clinical diagnosis and management.
KeywordsCardiac Hypertrophy Hypertrophic Cardiomyopathy Cardiac Troponin Cardiac Myosin Essential Light Chain
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