Linking Clinical Parameters and Genotype in Dilated Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Genotype‐specific pathogenic effects in human dilated cardiomyopathy
KEY POINTS Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca2+ -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. A mutation in the gene encoding Lamin A/C (LMNAp...
متن کاملImaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.
Advances in cardiovascular imaging increasingly afford unique insights into heritable myocardial disease. Because the clinical presentation of genetic cardiomyopathies may range from nonspecific symptoms to sudden cardiac death, an accurate diagnosis has implications for individual patients as well as related family members. The initial consideration of genetic cardiomyopathy may occur in the i...
متن کاملTitin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy
Background Cardiovascular magnetic resonance (CMR) imaging is the gold standard imaging modality for characterization of dilated cardiomyopathy (DCM). We recently identified genetic variants that truncate the giant protein Titin (TTN) accounting for up to 25% of DCM cases: a discovery that will increase the utility of genetic testing and family screening in DCM. However, the clinical consequenc...
متن کاملEchocardiographic evaluation of diastolic parameters in dogs with dilated cardiomyopathy.
Echocardiography is a valuable tool for the evaluation of systolic and diastolic cardiac function. A high correlation between measurements of diastolic mitral inflow parameters analyzed with Doppler echocardiography and invasive methods makes the former valuable. The aim of this study was to ascertain if significant differences occur in diastolic myocardial parameters between dogs with no heart...
متن کاملCanine Dilated Cardiomyopathy—Recognition & Clinical Management
Waltham USA, Inc The Ohio State University, College of Veterinary Medicine All rights including that of translation into other languages, reserved. Photomechanical reproduction (photocopy, microcopy) of this publication or parts thereof without written permission from Waltham USA, Inc. is prohibited. The opinions expressed in these proceedings are those of the authors and not necessarily those ...
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: Circulation: Heart Failure
سال: 2018
ISSN: 1941-3289,1941-3297
DOI: 10.1161/circheartfailure.118.005459