Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disorder; mutations in at least 20 genes have been associated. Brugada syndrome (BrS) is an autosomal dominant inherited disorder caused by mutations mainly in theSCN5Agene. A new clinical entity that consists of HCM, typical electrical instability of BrS and sudden death (SD), is described.

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome / Mango, Ruggiero; Luchetti, Andrea; Sangiuolo, Raffaele; Ferradini, Valentina; Briglia, Nicola; Giardina, Emiliano; Ferrè, Fabrizio; Helmer Citterich, Manuela; Romeo, Francesco; Novelli, Giuseppe; Sangiuolo, Federica. - In: CIRCULATION JOURNAL. - ISSN 1346-9843. - ELETTRONICO. - 80:4(2016), pp. 938-949. [10.1253/circj.CJ-15-0685]

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

FERRE', FABRIZIO;
2016

Abstract

Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disorder; mutations in at least 20 genes have been associated. Brugada syndrome (BrS) is an autosomal dominant inherited disorder caused by mutations mainly in theSCN5Agene. A new clinical entity that consists of HCM, typical electrical instability of BrS and sudden death (SD), is described.
2016
Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome / Mango, Ruggiero; Luchetti, Andrea; Sangiuolo, Raffaele; Ferradini, Valentina; Briglia, Nicola; Giardina, Emiliano; Ferrè, Fabrizio; Helmer Citterich, Manuela; Romeo, Francesco; Novelli, Giuseppe; Sangiuolo, Federica. - In: CIRCULATION JOURNAL. - ISSN 1346-9843. - ELETTRONICO. - 80:4(2016), pp. 938-949. [10.1253/circj.CJ-15-0685]
Mango, Ruggiero; Luchetti, Andrea; Sangiuolo, Raffaele; Ferradini, Valentina; Briglia, Nicola; Giardina, Emiliano; Ferrè, Fabrizio; Helmer Citterich, Manuela; Romeo, Francesco; Novelli, Giuseppe; Sangiuolo, Federica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/536361
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