Genetic arrhythmias

Silvia G. Priori, Marina Cerrone

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The increasing interaction between molecular biology and clinical cardiology has allowed to demonstrate that mutations on the genes encoding cardiac on channels or regulatory proteins can cause inherited arrhythmogenic disorders predisposing to sudden death in young individuals. These diseases are the long QT syndrome, the Brugada syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the short QT syndrome. Since incomplete penetrance is present, genetic screening is pivotal to perform a correct diagnosis in mutation carriers who do not manifest phenotype, but are still at increased risk of cardiac events if left untreated. All these syndromes show genetic heterogeneity and it is becoming evident that each genetic variant of the disease presents distinguishing clinical characteristics suggesting that genetics may be used for targeting risk stratification and treatment of these diseases. In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented.

Original languageEnglish
Pages (from-to)241-248
Number of pages8
JournalItalian Heart Journal
Volume6
Issue number3
Publication statusPublished - Mar 2005

Fingerprint

Cardiac Arrhythmias
Brugada Syndrome
Long QT Syndrome
Mutation
Inborn Genetic Diseases
Genetic Heterogeneity
Penetrance
Genetic Testing
Sudden Death
Cardiology
Molecular Biology
Phenotype
Therapeutics
Genes
Proteins
SHORT syndrome
Polymorphic catecholergic ventricular tachycardia

Keywords

  • Genetics
  • Implantable cardioverter-defibrillator
  • Ion channels
  • QT interval
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Priori, S. G., & Cerrone, M. (2005). Genetic arrhythmias. Italian Heart Journal, 6(3), 241-248.

Genetic arrhythmias. / Priori, Silvia G.; Cerrone, Marina.

In: Italian Heart Journal, Vol. 6, No. 3, 03.2005, p. 241-248.

Research output: Contribution to journalArticle

Priori, SG & Cerrone, M 2005, 'Genetic arrhythmias', Italian Heart Journal, vol. 6, no. 3, pp. 241-248.
Priori SG, Cerrone M. Genetic arrhythmias. Italian Heart Journal. 2005 Mar;6(3):241-248.
Priori, Silvia G. ; Cerrone, Marina. / Genetic arrhythmias. In: Italian Heart Journal. 2005 ; Vol. 6, No. 3. pp. 241-248.
@article{c2c70485b4384dc1a21f84082f7078e1,
title = "Genetic arrhythmias",
abstract = "The increasing interaction between molecular biology and clinical cardiology has allowed to demonstrate that mutations on the genes encoding cardiac on channels or regulatory proteins can cause inherited arrhythmogenic disorders predisposing to sudden death in young individuals. These diseases are the long QT syndrome, the Brugada syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the short QT syndrome. Since incomplete penetrance is present, genetic screening is pivotal to perform a correct diagnosis in mutation carriers who do not manifest phenotype, but are still at increased risk of cardiac events if left untreated. All these syndromes show genetic heterogeneity and it is becoming evident that each genetic variant of the disease presents distinguishing clinical characteristics suggesting that genetics may be used for targeting risk stratification and treatment of these diseases. In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented.",
keywords = "Genetics, Implantable cardioverter-defibrillator, Ion channels, QT interval, Sudden cardiac death",
author = "Priori, {Silvia G.} and Marina Cerrone",
year = "2005",
month = "3",
language = "English",
volume = "6",
pages = "241--248",
journal = "Italian Heart Journal",
issn = "1129-471X",
publisher = "Societa Italiana di Cardiologia",
number = "3",

}

TY - JOUR

T1 - Genetic arrhythmias

AU - Priori, Silvia G.

AU - Cerrone, Marina

PY - 2005/3

Y1 - 2005/3

N2 - The increasing interaction between molecular biology and clinical cardiology has allowed to demonstrate that mutations on the genes encoding cardiac on channels or regulatory proteins can cause inherited arrhythmogenic disorders predisposing to sudden death in young individuals. These diseases are the long QT syndrome, the Brugada syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the short QT syndrome. Since incomplete penetrance is present, genetic screening is pivotal to perform a correct diagnosis in mutation carriers who do not manifest phenotype, but are still at increased risk of cardiac events if left untreated. All these syndromes show genetic heterogeneity and it is becoming evident that each genetic variant of the disease presents distinguishing clinical characteristics suggesting that genetics may be used for targeting risk stratification and treatment of these diseases. In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented.

AB - The increasing interaction between molecular biology and clinical cardiology has allowed to demonstrate that mutations on the genes encoding cardiac on channels or regulatory proteins can cause inherited arrhythmogenic disorders predisposing to sudden death in young individuals. These diseases are the long QT syndrome, the Brugada syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the short QT syndrome. Since incomplete penetrance is present, genetic screening is pivotal to perform a correct diagnosis in mutation carriers who do not manifest phenotype, but are still at increased risk of cardiac events if left untreated. All these syndromes show genetic heterogeneity and it is becoming evident that each genetic variant of the disease presents distinguishing clinical characteristics suggesting that genetics may be used for targeting risk stratification and treatment of these diseases. In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented.

KW - Genetics

KW - Implantable cardioverter-defibrillator

KW - Ion channels

KW - QT interval

KW - Sudden cardiac death

UR - http://www.scopus.com/inward/record.url?scp=22344434914&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=22344434914&partnerID=8YFLogxK

M3 - Article

C2 - 15875515

AN - SCOPUS:22344434914

VL - 6

SP - 241

EP - 248

JO - Italian Heart Journal

JF - Italian Heart Journal

SN - 1129-471X

IS - 3

ER -