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AHA科学声明:解读偶然发现的与遗传性心血管疾病相关的基因变异

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AHA科学声明:解读偶然发现的与遗传性心血管疾病相关的基因变异-医知素材库
AHA科学声明:解读偶然发现的与遗传性心血管疾病相关的基因变异
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Circulation:Genomic and Precision MedicineAHA SCIENTIFIC STATEMENTInterpreting Incidentally Identified Variants inGenes Associated With Heritable CardiovasculanDisease:A Scientific Statement From theAmerican Heart AssociationAndrew P.Landstrom,MD,PhD,FAHA,Chair;Anwar A.Chahal,MBChB,PhD,MRCP Vice Chair;Michael J.Ackerman,MD,PhD;Sharon Cresci,MD;Dianna M.Milewicz,MD,PhD;Alanna A.Morris,MD,MSc,FAHA;Georgia Sarquella-Brugada,MD,PhD;Christopher Semsarian,MBBS PhD,MPH,FAHA;Svati H.Shah,MD,MHS,FAHA;Amy C.Sturm,MS,LCGC;on behalf of theAmerican Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicineand Council on Clinical Cardiology:Council on Cardiovascular and Stroke Nursing;Council on Hypertension;Council on LifelongCongenital Heart Disease and Heart Health in the Young;Council on Peripheral Vascular Disease;and Stroke CouncilABSTRACT:Rapid advances in genetic technologies have led to expanding use of diagnostic,research,and direct-to-consumerexome and genome sequencing.Incidentally identified variants from this sequencing represent a significant and growingchallenge to interpret and translate into clinical care and include variants in genes associated with heritable cardiovasculardisease such as cardiac ion channelopathies,cardiomyopathies,thoracic aortic disease,dyslipidemias,and congenital/structural heart disease.These variants need to be properly reported,the risk of associated disease accurately assessed,andclinical management implemented to prevent or lessen the disease so that cardiovascular genomic medicine can becomeboth predictive and preventive.The goal of this American Heart Association consensus statement is to provide guidanceto clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovasculardisease genes and to assist them in the interpretation and clinical application of variants.This scientific statement outlines aframework through which clinicians can assess the pathogenicity of an incidental variant,which includes a clinical evaluationfromof the patient and the patient's family and re-evaluation of the genetic variant in question.Furthermore,this guidancehttp:/underscores the importance of a multidisciplinary team to address these challenging clinical evaluations and highlights howclinicians can effectively interface with specialty centers.Key Words:AHA Scientific Statements aortic diseases cardiomyopathies cardiovascular diseases channelopathies■dyslipidemias■genomics■patient care teamagnostic genetic testing has been a critical compo-Although diagnostic genetic testing is performednent of the evaluation of heritable monogenic car-when there is a clinical evaluation suggestive of adiovascular disease (CVD)for >3 decades.Theseheritable CVD,ES and GS are frequently conductedconditions include cardiac ion channelopathies,cardio-for a primary indication unrelated to CVD but canmyopathies,heritable thoracic aortic disease,
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