Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy
AJ Marian, E Braunwald - Circulation research, 2017 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …
Calcium signaling and cardiac arrhythmias
There has been a significant progress in our understanding of the molecular mechanisms by
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. A growing list of …
European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …
AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022 - academic.oup.com
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy
JM Bos, JA Towbin, MJ Ackerman - Journal of the American College of …, 2009 - jacc.org
Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular
disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting …
disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting …
Hypertrophic cardiomyopathy: an overview of genetics and management
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle
disorder with a diverse natural history, characterized by unexplained left ventricular …
disorder with a diverse natural history, characterized by unexplained left ventricular …
[HTML][HTML] Cardiac disorders and pathophysiology of sarcomeric proteins
J van der Velden, GJM Stienen - Physiological reviews, 2018 - journals.physiology.org
The sarcomeric proteins represent the structural building blocks of heart muscle, which are
essential for contraction and relaxation. During recent years, it has become evident that …
essential for contraction and relaxation. During recent years, it has become evident that …
Coding Sequence Rare Variants Identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy
Background—Rare variants in> 30 genes have been shown to cause idiopathic or familial
dilated cardiomyopathy (DCM), but the frequency of genetic causation remains poorly …
dilated cardiomyopathy (DCM), but the frequency of genetic causation remains poorly …
Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
RH Willott, AV Gomes, AN Chang, MS Parvatiyar… - Journal of molecular and …, 2010 - Elsevier
Troponin (Tn) is a critical regulator of muscle contraction in cardiac muscle. Mutations in Tn
subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies …
subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies …
Targeting the sarcomere to correct muscle function
Various human diseases can disrupt the balance between muscle contraction and
relaxation. Sarcomeric modulators can be used to readjust this balance either indirectly by …
relaxation. Sarcomeric modulators can be used to readjust this balance either indirectly by …
Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs
In striated muscle, the protein troponin complex turns contraction on and off in a calcium-
dependent manner. The calcium-sensing component of the complex is troponin C, which is …
dependent manner. The calcium-sensing component of the complex is troponin C, which is …