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Publication Detail
Insights and challenges in hypertrophic cardiomyopathy, 2012.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Sen-Chowdhry S, Tomé Esteban MT, McKenna WJ
  • Publication date:
  • Pagination:
    174, 185
  • Journal:
    Herzschrittmacherther Elektrophysiol
  • Volume:
  • Issue:
  • Status:
  • Country:
  • Language:
  • Keywords:
    Cardiomyopathy, Hypertrophic, Familial, Death, Sudden, Cardiac, Genetic Testing, Humans
We present a contemporary overview of hypertrophic cardiomyopathy (HCM), incorporating recent thinking on disease mechanisms and advances in therapy. Clinical, pathological, genetic, and mechanistic definitions of HCM are discussed. The genetic profile of HCM in both adults and children is explored to the extent of present knowledge. The spectrum of morphological and histological abnormalities in HCM is reviewed, including involvement of the right ventricle, which is less widely recognised. Morbidity and mortality from HCM may result from diastolic dysfunction, ischaemia, left ventricular outflow tract obstruction, mitral regurgitation, supraventricular and ventricular arrhythmia, or--less commonly--progression to "burnt out" disease or sudden cardiac death (SCD). Defibrillators offer an efficacious means of averting SCD, but are not without their complications, underscoring the importance of identifying at-risk cases. We address the strengths and weaknesses of prognostication based on readily obtainable clinical markers, and discuss the integration of auxiliary approaches such as genotyping, cardiovascular magnetic resonance, and fractionation analysis into existing risk stratification guidelines. Finally, we provide an update on the pharmacological and interventional management of HCM, including the advent of disease-modifying therapy.
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