Evidence map›Paper›PMID 40565972›Full record

ReviewJournal of clinical medicine2025

Hypertrophic Cardiomyopathy and Phenocopies: New Therapies for Old Diseases-Current Evidence and Future Perspectives.

Maria Alfarano, Federico Ciccarelli, Giulia Marchionni, Federico Ballatore, Jacopo Costantino, Antonio Lattanzio, Giulia Pecci, Silvia Stavagna, Leonardo Iannelli, Gioacchino Galardo and 4 more

Abstract readReview
In one paragraph

Review in Journal of clinical medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Maria AlfaranoDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-0390-4262
Federico CiccarelliDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Giulia MarchionniDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-4311-7570
Federico BallatoreDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0009-0002-5061-0424
Jacopo CostantinoDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Antonio LattanzioDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Giulia PecciDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Silvia StavagnaDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Leonardo IannelliDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Gioacchino GalardoDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Carlo LavalleDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-0794-4296
Fabio MiraldiDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-2404-3369
Carmine Dario VizzaDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-3540-4983
Cristina ChimentiDepartment of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The hypertrophic cardiomyopathy (HCM) clinical phenotype includes sarcomeric HCM, which is the most common form of inherited cardiomyopathy with a population prevalence of 1:500, and phenocopies such as cardiac amyloidosis and Anderson-Fabry disease, which are considered rare diseases. Identification of cardiac and non-cardiac red flags in the context of multi-organ syndrome, multimodality imaging, including echocardiography, cardiac magnetic resonance, and genetic testing, has a central role in the diagnostic pathway. Identifying the specific disease underlying the hypertrophic phenotype is very important since many disease-modifying therapies are currently available, and phase 3 trials for new treatments have been completed or are ongoing. In particular, many chemotherapy agents (alkylating agents, proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies targeting clonal cells) allowing one to treat AL amyloidosis, transthyretin stabilizers (tafamidis and acoramidis), and gene silencers (patisiran and vutrisiran) are available in transthyretin cardiac amyloidosis, and enzyme replacement therapies (agalsidase-alpha, agalsidase-beta, and pegunigalsidase-alpha) or oral chaperone therapy (migalastat) can be used in Anderson-Fabry disease. In addition, the introduction of cardiac myosin inhibitors (mavacamten and aficamten) has deeply modified the treatment of hypertrophic obstructive cardiomyopathy. The aim of this review is to describe the new disease-modifying treatments available in HCM and phenocopies in light of current scientific evidence.

Indexed as

cardiac magnetic resonancecardiomyopathydisease-modifying therapygenetic test

Identifiers

PMID40565972
PMCPMC12193899

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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.