ArticleJournal of cardiovascular echography
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease.
Article in Journal of cardiovascular echography. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024.Arquivos brasileiros de cardiologia · 2024Guideline
- Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.Biomedicines · 2025Review
- Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management.Journal of clinical medicine · 2023Review
- Cardiac magnetic resonance in the assessment of hypertrophic cardiomyopathy phenotypes and stages - pictorial review.Polish journal of radiology · 2021Review
- Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.International journal of environmental research and public health · 2020Review
- Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.PloS one · 2020Article
- Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.The application of clinical genetics · 2019Review
- Concomitant Dynamic Left Ventricular Outflow Tract Obstruction and Severe Aortic Stenosis a Case Report and a Literature Review.Journal of cardiovascular echographyArticle
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopies) in about 10%-15% of the patients. Early diagnosis of storage and infiltrative disorders, particularly those with specific treatments (i.e., Fabry disease and/or amyloidosis), means early management and treatment, with a significant impact on patients prognosis. Here, we report on four different cases of HCM, highlighting difficulties to make differential diagnosis of different forms of cardiomyopathies, and their potential impact on the management.
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Registered trials
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