Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications

Francesca Girolami, Giulia Frisso, Matteo Benelli, Lia Crotti, Maria Iascone, Ruggiero Mango, Cristina Mazzaccara, Kalliope Pilichou, Eloisa Arbustini, Benedetta Tomberli, Giuseppe Limongelli, Cristina Basso, Iacopo Olivotto

Research output: Contribution to journalReview article

10 Citations (Scopus)

Abstract

Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. With a combined estimated prevalence of 3% in the general population, these conditions represent a relevant epidemiological entity worldwide, and are a major cause of cardiac morbidity and mortality in the young. The extraordinary progress achieved in molecular genetics over the last three decades has unveiled the complex molecular basis of many familial cardiac conditions, paving the way for routine use of gene testing in clinical practice. In current practice, genetic testing can be used in a clinically affected patient to confirm diagnosis, or to formulate a differential diagnosis among overlapping phenotypes or between hereditary and acquired (nongenetic) forms of disease. Although genotype-phenotype correlations are generally unpredictable, a precise molecular diagnosis can help predict prognosis in specific patient subsets and may guide management. In clinically unaffected relatives, genetic cascade testing is recommended, after the initial identification of a pathogenic variation, with the aim of identifying asymptomatic relatives who might be at risk of disease-related complications, including unexpected sudden cardiac death. Future implications include the identification of novel therapeutic targets and development of tailored treatments including gene therapy. This document reflects the multidisciplinary, 'real-world' experience required when implementing genetic testing in cardiomyopathies and arrhythmic syndromes, along the recommendations of various guidelines.

Original languageEnglish
Pages (from-to)1-11
Number of pages11
JournalJournal of Cardiovascular Medicine
Volume19
Issue number1
DOIs
Publication statusPublished - Jan 1 2018

Fingerprint

Genetic Testing
Ethics
Heart Diseases
Cardiomyopathies
Channelopathies
Sudden Cardiac Death
Genetic Association Studies
Genetic Therapy
Molecular Biology
Differential Diagnosis
Guidelines
Morbidity
Phenotype
Mortality
Therapeutics
Population
Genes

Keywords

  • arrhythmias
  • cardiomyopathies
  • genetic counselling
  • genetic testing
  • massive sequencing

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Contemporary genetic testing in inherited cardiac disease : Tools, ethical issues, and clinical applications. / Girolami, Francesca; Frisso, Giulia; Benelli, Matteo; Crotti, Lia; Iascone, Maria; Mango, Ruggiero; Mazzaccara, Cristina; Pilichou, Kalliope; Arbustini, Eloisa; Tomberli, Benedetta; Limongelli, Giuseppe; Basso, Cristina; Olivotto, Iacopo.

In: Journal of Cardiovascular Medicine, Vol. 19, No. 1, 01.01.2018, p. 1-11.

Research output: Contribution to journalReview article

Girolami, F, Frisso, G, Benelli, M, Crotti, L, Iascone, M, Mango, R, Mazzaccara, C, Pilichou, K, Arbustini, E, Tomberli, B, Limongelli, G, Basso, C & Olivotto, I 2018, 'Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications', Journal of Cardiovascular Medicine, vol. 19, no. 1, pp. 1-11. https://doi.org/10.2459/JCM.0000000000000589
Girolami, Francesca ; Frisso, Giulia ; Benelli, Matteo ; Crotti, Lia ; Iascone, Maria ; Mango, Ruggiero ; Mazzaccara, Cristina ; Pilichou, Kalliope ; Arbustini, Eloisa ; Tomberli, Benedetta ; Limongelli, Giuseppe ; Basso, Cristina ; Olivotto, Iacopo. / Contemporary genetic testing in inherited cardiac disease : Tools, ethical issues, and clinical applications. In: Journal of Cardiovascular Medicine. 2018 ; Vol. 19, No. 1. pp. 1-11.
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