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 …
[HTML][HTML] Overview of the muscle cytoskeleton
CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Aim Hypertrophic cardiomyopathy (HCM) exhibits genetic heterogeneity that is dominated
by variation in eight sarcomeric genes. Genetic variation in a large number of non …
by variation in eight sarcomeric genes. Genetic variation in a large number of non …
The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy
Rationale: Mutations in the intercalated disc proteins, such as plakophilin 2 (PKP2), cause
arrhythmogenic cardiomyopathy (AC). AC is characterized by the replacement of cardiac …
arrhythmogenic cardiomyopathy (AC). AC is characterized by the replacement of cardiac …
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
R Valdés-Mas, A Gutiérrez-Fernández, J Gómez… - Nature …, 2014 - nature.com
Mutations in different genes encoding sarcomeric proteins are responsible for 50–60% of
familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations …
familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations …
DNA damage response/TP53 pathway is activated and contributes to the pathogenesis of dilated cardiomyopathy associated with LMNA (Lamin A/C) mutations
Rationale: Mutations in the LMNA gene, encoding LMNA (lamin A/C), are responsible for
laminopathies. Dilated cardiomyopathy (DCM) is a major cause of mortality and morbidity in …
laminopathies. Dilated cardiomyopathy (DCM) is a major cause of mortality and morbidity in …
Genetic testing for inherited cardiac disease
AAM Wilde, ER Behr - Nature Reviews Cardiology, 2013 - nature.com
Over the past 2 decades, investigators in the field of cardiac genetics have evolved a
complex understanding of the pathophysiological basis of inherited cardiac diseases, which …
complex understanding of the pathophysiological basis of inherited cardiac diseases, which …
Rewiring of 3D chromatin topology orchestrates transcriptional reprogramming and the development of human dilated cardiomyopathy
Background: Transcriptional reconfiguration is central to heart failure, the most common
cause of which is dilated cardiomyopathy (DCM). The effect of 3-dimensional chromatin …
cause of which is dilated cardiomyopathy (DCM). The effect of 3-dimensional chromatin …
Cardiac fibro-adipocyte progenitors express desmosome proteins and preferentially differentiate to adipocytes upon deletion of the desmoplakin gene
Rationale: Mutations in desmosome proteins cause arrhythmogenic cardiomyopathy (AC), a
disease characterized by excess myocardial fibroadipocytes. Cellular origin (s) of …
disease characterized by excess myocardial fibroadipocytes. Cellular origin (s) of …
Molecular genetic basis of hypertrophic cardiomyopathy
AJ Marian - Circulation research, 2021 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium characterized
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …