Type:

Other

Description:

Unexplained cardiac hypertrophy, the diagnostic criterion for hypertrophic cardiomyopathy (HCM), occurs in 1 in 500 adults. Insights into the genetic cause and molecular pathophysiology of HCM are reshaping clinical paradigms for diagnosis and treatment of this common myocardial disorder. Human genetic studies have established that dominant mutations in the proteins that make up the contractile apparatus (the sarcomere) cause HCM. With the current availability of clinical gene-based diagnostics, pathogenic mutations in affected patients can be defined, which can suggest a clinical course and allow definitive preclinical identification of family members at risk for HCM. Genetic discoveries have also fostered mechanistic investigations in model organisms that are engineered to carry human HCM mutations. Novel therapeutic targets have emerged from these fundamental studies and are currently under clinical assessment in humans. The combination of contemporary gene-based diagnosis with new strategies to attenuate disease development and progression is changing the natural history of lifelong cardiac symptoms, arrhythmias, and heart failure from HCM.

Subjects:

  • Education > General

Education Levels:

    Keywords:

    Cardiac physiology,NSDL,NSDL_SetSpec_BEN,Hypertrophy,Life Science,Teacher-centered/traditional instruction,Education,Physiology,oai:nsdl.org:2200/20110722024305853T

    Language:

    English

    Access Privileges:

    Public - Available to anyone

    License Deed:

    Creative Commons Attribution Non-Commercial Share Alike

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