Evidence map›Paper›PMID 41342799›Full record

ArticleJACC. Case reports2026

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.

Athanasios Feidakis, Richard Nies, Merve Kural, Lenhard Pennig, Nora Winnerling, Florian Erger, Roman Pfister, Katharina Seuthe

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Athanasios FeidakisDepartment III of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. Electronic address: athanasios.feidakis@gmail.com.
Richard NiesDepartment III of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Merve KuralDepartment III of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Lenhard PennigInstitute for Diagnostic and Interventional Radiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Nora WinnerlingDepartment of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Florian ErgerDepartment of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Roman PfisterDepartment III of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Katharina SeutheDepartment III of Internal Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyosin inhibitor therapy is a novel option for hypertrophic cardiomyopathy (HCM) with left ventricular outflow tract obstruction. Noonan syndrome (NS), a RASopathy, can mimic HCM but was excluded from myosin inhibitor trials. CASE SUMMARY: A 60-year-old woman with obstructive HCM (HOCM) presented with progressive dyspnea (NYHA functional class III). Echocardiography showed severe septal hypertrophy (19 mm) and persistent left ventricular outflow tract obstruction (peak gradient: 51 mm Hg during Valsalva) despite beta-blocker therapy. Mavacamten, a myosin ATPase inhibitor, was initiated. After 6 months, symptoms improved (NYHA functional class II), the gradient decreased to 11 mm Hg, and N-terminal pro-B-type natriuretic peptide levels normalized. Genetic testing later confirmed NS. DISCUSSION: This is to our knowledge the first reported case of myosin inhibitor efficacy in NS-associated HOCM. Although NS-related hypertrophy stems from RAS/MAPK pathway dysregulation, the patient responded similarly to those with sarcomeric mutations. This suggests downstream hypercontractility may be a shared therapeutic target. TAKE-HOME MESSAGES: Myosin inhibitors may benefit syndromic HOCM. Further research is warranted.

Indexed as

cardiomyopathygenetic disordersleft ventriclephenotype

Identifiers

PMID41342799
PMCPMC12926177

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Registered trials

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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.