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(Circulation. 2006;113:1130-1135.)
© 2006 American Heart Association, Inc.

Contemporary Reviews in Cardiovascular Medicine

Role of Genetic Analyses in Cardiology

Part I: Mendelian Diseases: Cardiac Channelopathies

Silvia G. Priori, MD, PhD; Carlo Napolitano, MD, PhD

From the Molecular Cardiology, Maugeri Foundation, IRCCS (S.G.P., C.N.), and Department of Cardiology, University of Pavia (S.G.P.), Pavia, Italy.

Correspondence to Silvia G. Priori, MD, PhD, Molecular Cardiology, Maugeri Foundation, University of Pavia, Via Ferrata 8, 27100 Pavia, Italy. E-mail spriori{at}fsm.it

Genetic analysis can be performed to identify the molecular substrate of inherited arrhythmogenic diseases; however, the role of this information in helping the management of patients is still debated. Here, we support the view that the practical value of genetic analysis is different in the various inherited conditions and that it is strongly influenced by the amount of information available in each disease about genotype-phenotype correlations. In some diseases, clinical management of patients is profoundly affected by the type of the underlying genetic defect; therefore, in these conditions, there is a high priority to introduce genetic analysis into clinical practice. In the absence of genotype-phenotype correlations, genetic testing still can be very useful when there is a clinical advantage in establishing presymptomatic diagnosis or when screening of family members may point to reproductive counseling. Finally, there is a high priority for introducing genetic testing for those genetic diseases in which a limited number of genes allow a high yield of successfully genotyped patients. We have developed a "score" to compare the value of genetic testing in arrhythmogenic diseases and to convey our view that the clinical role of genetic analysis is different in the various inherited cardiomyopathies and channelopathies. Healthcare authorities should become responsive to the advancement of knowledge in this field and should help facilitate access to genotyping for families affected by those conditions in which genetic analysis provides useful information for clinical management.

Key Words: cardiomyopathy • death, sudden • genetics • hypertrophy • ion channels • myocardium

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