RT-126
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Molecular diagnosis of inherited
cardiac diseases: impact on clinical practice
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Silvia G. Priori, Carlo
Napolitano.
Laboratori di Cardiologia Molecolare ed Elettrofisiologia, Fondazione Salvatore
Maugeri, Pavia, Cattedra di Cardiologia, Facolta di Medicina e Chirurgia, Universita degli
Studi di Pavia, Policlinico San Matteo IRCCS, Pavia, Italy
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Abstract
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Molecular genetics is progressively entering clinical
practice. This new approach is modifying medical thinking as it becomes possible to
diagnose diseases in their pre-symptomatic phase. It is therefore important for physicians
to become acquainted with the "language" and the "methodology" of
molecular biologists in order to balance opposite attitudes of the novice, ie skepticism
and over-expectation, and to establish a fruitful interaction with the molecular
diagnostic laboratories.
There are conditions such as long QT syndrome and hypertrophic cardiomyopathy where
knowledge is rather advanced and therefore clinical value of molecular diagnosis is
proven. For other conditions such as arrhythmogenic right ventricular dysplasia, familial
atrial fibrillation and familial Wolf Parkinson White only the chromosomal region where
the gene is most likely located is known. In this cases the clinical value is limited by
the fact that only relatively large families can be studied. Collaboration of physicians
and basic scientists is warranted to develop molecular diagnosis into a clinical tool.
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Key Words
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Molecular biology - structural anatomy,
pathology
congenital cardiac diseases, gene disease, long QT syndrome, hypertrophic cardiomyopathy,
arrhythmogenic right ventricular dysplasia, famial aftrial fibrillation, familial WPW
syndrome, familal heart block, idiopathic ventricualr fibrillation, Brugada´s syndrome, R
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