Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Jodie InglesChristopher Semsarian

Abstract

Purpose:A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases.Methods:Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1-3, 6, and 12 months after the result was given.Results:A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands and 21 asymptomatic relatives. Physical and mental co...Continue Reading

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Citations

Jul 30, 2014·Trends in Cardiovascular Medicine·Jodie Ingles, Christopher Semsarian
Mar 19, 2014·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Jodie Ingles, Christopher Semsarian
May 24, 2013·European Journal of Cardiovascular Nursing : Journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology·Imke Christiaans
Apr 10, 2013·European Journal of Cardiovascular Nursing : Journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology·Laura YeatesJodie Ingles
Dec 16, 2017·Journal of Genetic Counseling·Julia WynnWendy K Chung
Feb 23, 2018·Journal of Genetic Counseling·Carissa BonnerKirsten McCaffery
May 10, 2020·Journal of Clinical Medicine·Céline BordetPhilippe Charron
Oct 2, 2019·Cold Spring Harbor Perspectives in Medicine·Julia Platt
Jul 9, 2020·Journal of Clinical Medicine·Nicoleta-Monica Popa-FoteaMaria Dorobantu
Jan 25, 2020·Heart, Lung & Circulation·Claire O'DonovanNadine A Kasparian

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