Genetic Counseling in Inherited Cardiomyopathies
نویسندگان
چکیده
منابع مشابه
Inherited cardiomyopathies.
Editor—It was interesting to read Staikou and colleagues' 1 excellent review of Perioperative management of hereditary arrhythmogenic syndromes. This group of disorders seems to have previously been under represented in mainstream anaesthetic literature. The collective incidence of the group of disorders that are described means that all consultant anaesthetists will have anaesthetized a number...
متن کاملInherited cardiomyopathies.
From the Department of Genetics,* Harvard Medical School, Boston; the Cardiovascular Division,y Brigham and Women’s Hospital and Harvard Medical School, Boston; the Laboratory for Molecular Medicine,z Partners HealthCare Center for Personalized Genetic Medicine, Boston; and the Department of Pathology,x Massachusetts General Hospital, Brigham and Women’s Hospital and Harvard Medical School, Bos...
متن کاملInherited cardiomyopathies.
Copyright © 2011 Massachusetts Medical Society. I nherited cardiomyopathies are a major cause of heart disease in all age groups, often with an onset in adolescence or early adult life. Not only the patients but also their families can be severely burdened by these illnesses. More than 20 years ago, the first “disease gene” for hypertrophic cardiomyopathy was identified.1,2 This finding led to ...
متن کاملPersonalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies.
Major advances in the field of molecular genetics have expanded our ability to identify genetic substrates underlying the pathogenesis of various disorders that follow Mendelian inheritance patterns. Included among these disorders are the potentially lethal and heritable channelopathies and cardiomyopathies for which the underlying genetic basis has been identified and is now better understood....
متن کاملGenetic engineering and therapy for inherited and acquired cardiomyopathies.
The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: JACC: Case Reports
سال: 2020
ISSN: 2666-0849
DOI: 10.1016/j.jaccas.2020.02.007