Key result
ARVC exemplifies translational medicine progress from anatomical identification to genetic etiology and early detection.
The paper highlights the translational medicine journey of arrhythmogenic right ventricular cardiomyopathy from anatomical discovery to genetic identification and early detection.
ARVC model guides genetic screening to avert sudden death; leaves open extension of this translational paradigm to other inherited cardiomyopathies.
Arrhythmogenic right ventricular cardiomyopathy is a recent discovery in the field of non-ischaemic myocardial diseases. It represents a unique example on how it is possible in few years to move from the identification of a new lethal morbid entity at the anatomical theatre towards the unveiling of the genetic aetiology, thus allowing early detection of carriers with effective strategies for premature death prevention.
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Gaetano Thiene (2015) conducted a review in Arrhythmogenic right ventricular cardiomyopathy. Arrhythmogenic right ventricular cardiomyopathy serves as a paradigm of translational medicine, progressing from anatomical identification to genetic etiology and early detection for death prevention.
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