title: New molecular genetic tests in the diagnosis of heart disease.
abstract: With the increasing use of next-generation sequencing applications, there has been an increase in identification of genetic causes of cardiac disease. This technology has also enabled the transition of these genes into the clinical setting and the rapid growth of large gene tests for the diagnosis of heart disorders. The ability to combine tests to include similar, but distinct, diseases has shown that many genes can be responsible for a wide variety of both syndromic and nonsyndromic disorders. This article discusses the current state of molecular genetic diagnosis for cardiac disorders, focusing on diseases with mendelian inheritance.
authors: Partners HealthCare Center for Personalized Genetic Medicine, Boston, MA, USA; Department of Pathology, Brigham and Woman's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA. Electronic address: mlebo@partners.org.
authors: Matthew S
authors: MS
authors: Lebo
authors: Partners HealthCare Center for Personalized Genetic Medicine, Boston, MA, USA.
authors: Samantha M
authors: SM
authors: Baxter
mesh_terms: D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics; D001158:Arteries / Q000002:abnormalities; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics; D003935:Diagnostic Techniques, Cardiovascular; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006331:Heart Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis / Q000235:genetics; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics
keywords: Biomarkers; Cardiac markers; Cardiomyopathy; Cardiovascular genetics; Channelopathy; Congenital heart defects; Genetic testing; Thoracic aneurysm