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 …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging
I Olivotto, F Cecchi, C Poggesi… - Circulation: Heart …, 2012 - Am Heart Assoc
LVEF indicates left ventricular ejection fraction; CMR, cardiac magnetic resonance; LGE, late
gadolinium enhancement; TDI, tissue Doppler imaging; LVOTO, left ventricular outflow tract …
gadolinium enhancement; TDI, tissue Doppler imaging; LVOTO, left ventricular outflow tract …
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 …
[HTML][HTML] Hypertrophic cardiomyopathy: genetics and clinical perspectives
CM Wolf - Cardiovascular diagnosis and therapy, 2019 - ncbi.nlm.nih.gov
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and
defined by unexplained isolated progressive myocardial hypertrophy, systolic and diastolic …
defined by unexplained isolated progressive myocardial hypertrophy, systolic and diastolic …
Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
Objective A predictable relation between genotype and disease expression is needed in
order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy …
order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy …
Molecular genetic studies of complex phenotypes
AJ Marian - Translational Research, 2012 - Elsevier
The approach to molecular genetic studies of complex phenotypes evolved considerably
during the recent years. The candidate gene approach, which is restricted to an analysis of a …
during the recent years. The candidate gene approach, which is restricted to an analysis of a …
Obesity and its association to phenotype and clinical course in hypertrophic cardiomyopathy
I Olivotto, BJ Maron, B Tomberli, E Appelbaum… - Journal of the American …, 2013 - jacc.org
Objectives: This study sought to assess the impact of body mass index (BMI) on cardiac
phenotypic and clinical course in a multicenter hypertrophic cardiomyopathy (HCM) cohort …
phenotypic and clinical course in a multicenter hypertrophic cardiomyopathy (HCM) cohort …
Hypertrophic cardiomyopathy: from genetics to treatment
AJ Marian - European journal of clinical investigation, 2010 - Wiley Online Library
Eur J Clin Invest 2010; 40 (4): 360–369 Abstract Background Hypertrophic cardiomyopathy
(HCM) is the prototypic form of pathological cardiac hypertrophy. HCM is an important cause …
(HCM) is the prototypic form of pathological cardiac hypertrophy. HCM is an important cause …
Human Molecular Genetic and Functional Studies Identify TRIM63, Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic …
SN Chen, G Czernuszewicz, Y Tan… - Circulation …, 2012 - Am Heart Assoc
Rationale: A delicate balance between protein synthesis and degradation maintains cardiac
size and function. TRIM63 encoding Muscle RING Finger 1 (MuRF1) maintains muscle …
size and function. TRIM63 encoding Muscle RING Finger 1 (MuRF1) maintains muscle …