Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

被引：298

作者：

Hershberger, Ray E. ^{[1
,2
]}

Givertz, Michael M. ^{[3
]}

Ho, Carolyn Y. ^{[3
]}

Judge, Daniel P. ^{[4
]}

Kantor, Paul F. ^{[5
,6
]}

Mcbride, Kim L. ^{[7
,8
]}

Morales, Ana ^{[1
]}

Taylor, Matthew R. G. ^{[9
]}

Vatta, Matteo ^{[10
,11
,12
]}

Ware, Stephanie M. ^{[11
,13
]}

机构：

[1] Ohio State Univ, Wexner Med Ctr, Div Human Genet, Columbus, OH 43210 USA

[2] Ohio State Univ, Wexner Med Ctr, Div Cardiovasc Med, Columbus, OH 43210 USA

[3] Brigham & Womens Hosp, Cardiovasc Div, 75 Francis St, Boston, MA 02115 USA

[4] Med Univ South Carolina, Div Cardiol, Charleston, SC 29425 USA

[5] Univ Alberta, Div Pediat Cardiol, Edmonton, AB, Canada

[6] Stollery Childrens Hosp, Edmonton, AB, Canada

[7] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA

[8] Ohio State Univ, Nationwide Childrens Hosp, Ctr Cardiovasc Res, Columbus, OH 43210 USA

[9] Univ Colorado, Adult Med Genet Program, Div Cardiol, Anschutz Med Campus, Aurora, CO USA

[10] Invitae Corp, San Francisco, CA USA

[11] Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46204 USA

[12] Indiana Univ, Sch Med, Dept Med, Indianapolis, IN 46204 USA

[13] Indiana Univ, Sch Med, Dept Pediat, Indianapolis, IN 46204 USA

来源：

JOURNAL OF CARDIAC FAILURE | 2018年 / 24卷 / 05期

关键词：

Cardiomyopathy; genetics; genetic analysis; practice guideline; secondary findings; LEFT-VENTRICULAR NONCOMPACTION; IMPLANTABLE CARDIOVERTER-DEFIBRILLATORS; IDIOPATHIC RESTRICTIVE CARDIOMYOPATHY; EXPERT CONSENSUS STATEMENT; A/C MUTATION CARRIERS; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; TASK-FORCE; SCIENTIFIC STATEMENT; CARDIAC AMYLOIDOSIS;

D O I：

10.1016/j.cardfail.2018.03.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the guideline has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine. The genetic evaluation of cardiomyopathy is a rapidly emerging key clinical priority, because high-throughput sequencing is now feasible for clinical testing and conventional interventions can improve survival, reduce morbidity, and enhance quality of life. Moreover, specific interventions may be guided by genetic analysis. A systematic approach is recommended: always a comprehensive family history; an expert phenotypic evaluation of the proband and at-risk family members to confirm a diagnosis and guide genetic test selection and interpretation; referral to expert centers as needed; genetic testing, with pre- and post-test genetic counseling; and specific guidance as indicated for drug and device therapies. The evaluation of infants and children demands special expertise. The approach to managing secondary and incidental sequence findings as recommended by the ACMG is provided.

引用

页码：281 / 302

页数：22

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