Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations

Revisiting phenotype after genetic assessment in a master runner athlete

Stefano Castellana, Sandra Mastroianno, Pietro Palumbo, Orazio Palumbo, Tommaso Biagini, Maria Pia Leone, Giovanni De Luca, Domenico Rosario Potenza, Cesare Maria Amico, Tommaso Mazza, Aldo Russo, Giuseppe Di Stolfo, Massimo Carella

Research output: Contribution to journalArticle

Abstract

Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.

Original languageEnglish
Pages (from-to)95-99
Number of pages5
JournalJournal of Electrocardiology
Volume53
DOIs
Publication statusPublished - Mar 1 2019

Fingerprint

Desmoglein 2
Desmocollins
Hypertrophic Cardiomyopathy
Sudden Death
Cardiomyopathies
Athletes
Phenotype
Mutation
Myosin Heavy Chains
Tachycardia
Sports
Differential Diagnosis
Heart Failure
Genes

Keywords

  • Complex cardiomyopathy phenotype
  • Next Generation Sequencing
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

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title = "Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete",
abstract = "Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.",
keywords = "Complex cardiomyopathy phenotype, Next Generation Sequencing, Sudden cardiac death",
author = "Stefano Castellana and Sandra Mastroianno and Pietro Palumbo and Orazio Palumbo and Tommaso Biagini and Leone, {Maria Pia} and {De Luca}, Giovanni and Potenza, {Domenico Rosario} and Amico, {Cesare Maria} and Tommaso Mazza and Aldo Russo and {Di Stolfo}, Giuseppe and Massimo Carella",
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T2 - Revisiting phenotype after genetic assessment in a master runner athlete

AU - Castellana, Stefano

AU - Mastroianno, Sandra

AU - Palumbo, Pietro

AU - Palumbo, Orazio

AU - Biagini, Tommaso

AU - Leone, Maria Pia

AU - De Luca, Giovanni

AU - Potenza, Domenico Rosario

AU - Amico, Cesare Maria

AU - Mazza, Tommaso

AU - Russo, Aldo

AU - Di Stolfo, Giuseppe

AU - Carella, Massimo

PY - 2019/3/1

Y1 - 2019/3/1

N2 - Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.

AB - Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.

KW - Complex cardiomyopathy phenotype

KW - Next Generation Sequencing

KW - Sudden cardiac death

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JF - Journal of Electrocardiology

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