ReviewJournal of clinical medicine2021
Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies.
Review in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed.
- The Multifaceted Role of theGenes · 2026Review
- Molecular Pathology of Cardiomyopathies: Bridging Morphology, Genomics, and Clinical Phenotypes.Current issues in molecular biology · 2026Review
- Bridging the Gap in AL and ATTR Cardiac Amyloidosis: Integrating Histopathology, Biomarkers, and Multimodal Imaging for Subtype-Specific Diagnosis.Reviews in cardiovascular medicine · 2026Review
- Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.Biomedicines · 2025Review
- Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study.The Journal of international medical research · 2025Article
- Evidence for chronic inflammation in cats with cardiomyopathies.Journal of feline medicine and surgery · 2025Article
- A New Perspective on the Role of Alterations in Mitochondrial Proteins Involved in ATP Synthesis and Mobilization in Cardiomyopathies.International journal of molecular sciences · 2025Review
- Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing.Scientific reports · 2025Article
- Review
- Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.Frontiers in cardiovascular medicine · 2025Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Examining the Difficulties in Identifying and Handling Cardiac Amyloidosis; Acquiring Important Knowledge and Robust Treatment Methods.Cardiovascular & hematological disorders drug targets · 2024Review
- Accurate Classification of Non-ischemic Cardiomyopathy.Current cardiology reports · 2023Review
- Pediatric restrictive cardiomyopathy: a case report.The Journal of international medical research · 2023Article
- Hamartoma of mature cardiomyocytes presenting with atypical angina,European heart journal. Case reports · 2023Article
- Article
- Arrhythmias as Presentation of Genetic Cardiomyopathy.Circulation research · 2022Review
- Dysfunctional sarcomeric relaxation in the heart.Current opinion in physiology · 2022Article
- Anatomical-MRI Correlations in Adults and Children with Hypertrophic Cardiomyopathy.Diagnostics (Basel, Switzerland) · 2022Review
- ATTR Epidemiology, Genetics, and Prognostic Factors.Methodist DeBakey cardiovascular journal · 2022Review
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These "sarcomeric cardiomyopathies" also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.
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Registered trials
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