Genetic Counseling and Testing for Hypertrophic Cardiomyopathy: An Adult Perspective

被引：0
|
作者：
Cécile Skrzynia
Erin M. Demo
Samantha M. Baxter
机构：
[1] University of North Carolina at Chapel Hill,Departments of Medicine and Genetics
[2] Emory University,Children’s Healthcare of Atlanta
[3] Partners Center for Personalized Genetic Medicine,Sibley Heart Center Cardiology
来源：
Journal of Cardiovascular Translational Research | 2009年 / 2卷
关键词：
Genetic Counseling; Hypertrophic Cardiomyopathy; Cardiac Genetics;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Hypertrophic cardiomyopathy (HCM) is considered to be a genetic disease. As such, multidisciplinary approach is needed to evaluate and treat this condition. We present several patient vignettes to illustrate the complementary skills of cardiologists and genetic counselors in providing comprehensive care. Translational application of research will continue to expand as more genetic causes of HCM will be recognized and more genetic tests will become available. Now is the opportunity to build a strong collaboration between the two disciplines to be prepared for the era of personalized medicine.
引用
收藏
页码：493 / 499
页数：6
相关论文
共 50 条
  • [21] Genetic testing and genetic counselling in hypertrophic cardiomyopathy:: the French experience
    Charron, P
    Héron, D
    Gargiulo, M
    Richard, P
    Dubourg, O
    Desnos, M
    Bouhour, JB
    Feingold, J
    Carrier, L
    Hainque, B
    Schwartz, K
    Komajda, M
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (10) : 741 - 746
  • [22] A new perspective in the study of genetic basis of hypertrophic cardiomyopathy
    Filatova, Elena V.
    Krylova, Natalia S.
    Vlasov, Ivan
    Maslova, Maria
    Poteshkina, Natalia
    Slominsky, Petr A.
    Shadrina, Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 193 - 193
  • [23] Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy
    Chiswell, Katherine
    Zaininger, Louisa
    Semsarian, Christopher
    PROGRESS IN CARDIOVASCULAR DISEASES, 2023, 80 : 38 - 45
  • [24] Merits and Pitfalls of Genetic Testing in a Hypertrophic Cardiomyopathy Clinic
    Arad, Michael
    Monserrat, Lorenzo
    Haron-Khun, Shiraz
    Seidman, Jonathan G.
    Seidman, Christine E.
    Arbustini, Eloisa
    Glikson, Michael
    Freimark, Dov
    ISRAEL MEDICAL ASSOCIATION JOURNAL, 2014, 16 (11): : 707 - 713
  • [25] Yield of cardiac sarcomere genetic testing in hypertrophic cardiomyopathy
    Van Driest, SL
    Ommen, SR
    Ackerman, MJ
    PEDIATRIC RESEARCH, 2004, 55 (04) : 49A - 49A
  • [26] Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy
    Naraen, Akriti
    McKay, Victoria
    Shaw, Matthew
    Modi, Simon
    Fairbairn, Timothy
    Somauroo, John
    Todd, Derick
    Cooper, Rob
    EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, 2020, 27 (07) : 777 - 779
  • [27] AN AN ETHICAL DEBATE - GENETIC TESTING FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY IN NEWBORN-INFANTS - CLINICIAN PERSPECTIVE
    RYAN, MP
    FRENCH, J
    ALMAHDAWI, S
    NIHOYANNOPOULOS, P
    CLELAND, JGF
    OAKLEY, CM
    BRITISH MEDICAL JOURNAL, 1995, 310 (6983): : 856 - 857
  • [28] DNA-chips for genetic testing of hypertrophic cardiomyopathy
    Waldmüller, S
    Freund, P
    Mauch, S
    Toder, R
    Vosberg, HP
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2001, 33 (06) : A127 - A127
  • [29] A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy
    Wheeler, Matthew
    Pavlovic, Aleksandra
    DeGoma, Emil
    Salisbury, Heidi
    Brown, Colleen
    Ashley, Euan A.
    JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2009, 2 (04) : 381 - 391
  • [30] Gene database for the development of genetic testing for hypertrophic cardiomyopathy
    Justin Carlus Silas
    Khalid Moghem Al Harbi
    BMC Genomics, 15 (Suppl 2)
12345