Genetics of dilated cardiomyopathy: practical implications for heart failure management

Andrew N. Rosenbaum, Katherine E. Agre, Naveen L. Pereira

Research output: Contribution to journalReview article

Abstract

Given the global burden of heart failure, strategies to understand the underlying cause or to provide prognostic information are critical to reducing the morbidity and mortality associated with this highly prevalent disease. Cardiomyopathies often have a genetic cause, and the field of heart failure genetics is progressing rapidly. Through a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increased identification of pathogenic genetic variants. Much research has also been focused on identifying markers of risk in patients with cardiomyopathy with the use of genetic testing. Advances in our understanding of genetic variants have been slightly offset by an increased recognition of the heterogeneity of disease expression. Greater breadth of genetic testing can increase the likelihood of identifying a variant of uncertain significance, which is resolved only rarely by cellular functional validation and segregation analysis. To increase the use of genetics in heart failure clinics, increased availability of genetic counsellors and other providers with experience in genetics is necessary. Ultimately, through ongoing research and increased clinical experience in cardiomyopathy genetics, an improved understanding of the disease processes will facilitate better clinical decision-making about the therapies offered, exemplifying the implementation of precision medicine.

Original languageEnglish (US)
JournalNature Reviews Cardiology
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Dilated Cardiomyopathy
Cardiomyopathies
Heart Failure
Genetic Testing
Precision Medicine
Research
Morbidity
Mortality
Therapeutics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Genetics of dilated cardiomyopathy : practical implications for heart failure management. / Rosenbaum, Andrew N.; Agre, Katherine E.; Pereira, Naveen L.

In: Nature Reviews Cardiology, 01.01.2019.

Research output: Contribution to journalReview article

@article{d4ff55d998ed49858fd7e2a23a7967cf,
title = "Genetics of dilated cardiomyopathy: practical implications for heart failure management",
abstract = "Given the global burden of heart failure, strategies to understand the underlying cause or to provide prognostic information are critical to reducing the morbidity and mortality associated with this highly prevalent disease. Cardiomyopathies often have a genetic cause, and the field of heart failure genetics is progressing rapidly. Through a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increased identification of pathogenic genetic variants. Much research has also been focused on identifying markers of risk in patients with cardiomyopathy with the use of genetic testing. Advances in our understanding of genetic variants have been slightly offset by an increased recognition of the heterogeneity of disease expression. Greater breadth of genetic testing can increase the likelihood of identifying a variant of uncertain significance, which is resolved only rarely by cellular functional validation and segregation analysis. To increase the use of genetics in heart failure clinics, increased availability of genetic counsellors and other providers with experience in genetics is necessary. Ultimately, through ongoing research and increased clinical experience in cardiomyopathy genetics, an improved understanding of the disease processes will facilitate better clinical decision-making about the therapies offered, exemplifying the implementation of precision medicine.",
author = "Rosenbaum, {Andrew N.} and Agre, {Katherine E.} and Pereira, {Naveen L.}",
year = "2019",
month = "1",
day = "1",
doi = "10.1038/s41569-019-0284-0",
language = "English (US)",
journal = "Nature Reviews Cardiology",
issn = "1759-5002",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Genetics of dilated cardiomyopathy

T2 - practical implications for heart failure management

AU - Rosenbaum, Andrew N.

AU - Agre, Katherine E.

AU - Pereira, Naveen L.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Given the global burden of heart failure, strategies to understand the underlying cause or to provide prognostic information are critical to reducing the morbidity and mortality associated with this highly prevalent disease. Cardiomyopathies often have a genetic cause, and the field of heart failure genetics is progressing rapidly. Through a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increased identification of pathogenic genetic variants. Much research has also been focused on identifying markers of risk in patients with cardiomyopathy with the use of genetic testing. Advances in our understanding of genetic variants have been slightly offset by an increased recognition of the heterogeneity of disease expression. Greater breadth of genetic testing can increase the likelihood of identifying a variant of uncertain significance, which is resolved only rarely by cellular functional validation and segregation analysis. To increase the use of genetics in heart failure clinics, increased availability of genetic counsellors and other providers with experience in genetics is necessary. Ultimately, through ongoing research and increased clinical experience in cardiomyopathy genetics, an improved understanding of the disease processes will facilitate better clinical decision-making about the therapies offered, exemplifying the implementation of precision medicine.

AB - Given the global burden of heart failure, strategies to understand the underlying cause or to provide prognostic information are critical to reducing the morbidity and mortality associated with this highly prevalent disease. Cardiomyopathies often have a genetic cause, and the field of heart failure genetics is progressing rapidly. Through a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increased identification of pathogenic genetic variants. Much research has also been focused on identifying markers of risk in patients with cardiomyopathy with the use of genetic testing. Advances in our understanding of genetic variants have been slightly offset by an increased recognition of the heterogeneity of disease expression. Greater breadth of genetic testing can increase the likelihood of identifying a variant of uncertain significance, which is resolved only rarely by cellular functional validation and segregation analysis. To increase the use of genetics in heart failure clinics, increased availability of genetic counsellors and other providers with experience in genetics is necessary. Ultimately, through ongoing research and increased clinical experience in cardiomyopathy genetics, an improved understanding of the disease processes will facilitate better clinical decision-making about the therapies offered, exemplifying the implementation of precision medicine.

UR - http://www.scopus.com/inward/record.url?scp=85074479632&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85074479632&partnerID=8YFLogxK

U2 - 10.1038/s41569-019-0284-0

DO - 10.1038/s41569-019-0284-0

M3 - Review article

C2 - 31605094

AN - SCOPUS:85074479632

JO - Nature Reviews Cardiology

JF - Nature Reviews Cardiology

SN - 1759-5002

ER -