ReviewMinerva medica2001
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.
Review in Minerva medica, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis.Scientific reports · 2017Pooled it
- The Role of Nt-Pro-Bnp in Predicting Outcome in Pediatric Hypertrophic Cardiomyopathy.Pediatric cardiology · 2025Article
- Cardiac myosin inhibitors - a cutting-edge solution for the management of hypertrophic cardiomyopathy: a narrative review.Annals of medicine and surgery (2012) · 2025Review
- Influence of Clinical Aspects and Genetic Factors on Feline HCM Severity and Development.Veterinary sciences · 2024Article
- Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Review
- Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.Korean circulation journal · 2021Review
- Identification of differentially expressed proteins in the injured lung from zinc chloride smoke inhalation based on proteomics analysis.Respiratory research · 2019Article
- Myosin Head Configurations in Resting and Contracting Murine Skeletal Muscle.International journal of molecular sciences · 2018Article
- Hypertrophic cardiomyopathy in children.Annals of cardiothoracic surgery · 2017Article
- Reduction of left ventricular longitudinal global and segmental systolic functions in patients with hypertrophic cardiomyopathy: Study of two-dimensional tissue motion annular displacement.Experimental and therapeutic medicine · 2014Article
- New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.European journal of human genetics : EJHG · 2013Article
- Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.Journal of cardiovascular translational research · 2013Article
- Article
- A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.Biochemistry research international · 2012Article
- Hypertrophic cardiomyopathy in daily practice: an introduction on diagnosis, prognosis and treatment.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2005Review
- New insights into the pathology of inherited cardiomyopathy.Heart (British Cardiac Society) · 2005Review
- To screen or not is not the question--it is when and how to screen.Circulation · 2003Article
- Modifier genes for hypertrophic cardiomyopathy.Current opinion in cardiology · 2002Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Advances in molecular genetics of hypertrophic cardiomyopathy (HCM) have led to identification of mutations in 11 genes coding for sarcomeric proteins. In addition, mutations in gene coding for the gamma subunit of AMP-activated protein kinase and triplet-repeat syndromes, as well as in mitochondrial DNA have been identified in patients with HCM. Mutations in genes coding for the beta-myosin heavy chain, myosin binding protein-C, and cardiac troponin T account for approximately 2/3 of all HCM cases. Accordingly, HCM is considered a disease of contractile sarcomeric proteins. Genotype-phenotype correlation studies show mutations and the genetic background affect the phenotypic expression of HCM. The final phenotype is the result of interactions between the causal genes, genetic background (modifier genes), and probably the environmental factors. The molecular pathogenesis of HCM is not completely understood. The initial defects caused by the mutant proteins are diverse. However, despite their diversity, they converge into common final pathway of impaired cardiac myocyte function. The latter leads to an increased myocyte stress and subsequent activation of stress-responsive signaling kinases and trophic factors, which activate the transcriptional machinery inducing cardiac hypertrophy, interstitial fibrosis and myocyte disarray, the pathological characteristics of HCM. Studies in transgenic animal models show that cardiac hypertrophy, interstitial fibrosis, and myocyte disarray are potentially reversible. These findings raise the possibility of reversal of evolving phenotype or prevention of phenotypes in human patients with HCM. Elucidation of the molecular genetic basis and the pathogenesis of HCM could provide the opportunity for genetic based diagnosis, risk stratification, and implementation of preventive and therapeutic measures in those who have inherited the causal mutations for HCM.
Indexed as
Identifiers
11740432PMC2910253W1482020310What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.