Evidence map›Paper›PMID 42622590›Full record

ArticleJACC. Case reports2026

Novel Use of Mavacamten in RAF1-Associated Noonan Syndrome With Hypertrophic Cardiomyopathy.

Lubna Ziauddin, Erin Davidson, Hannah Spears, Erin Coffman, Markey McNutt, Nicholas Hendren, Katherine Kearney, Sheila M Hegde, Justin L Grodin, Natalie Tapaskar

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. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Lubna ZiauddinDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Erin DavidsonDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Hannah SpearsDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Erin CoffmanMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Markey McNuttMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Nicholas HendrenDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Katherine KearneyDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Sheila M HegdeDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Justin L GrodinDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Natalie TapaskarDivision of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Electronic address: natalie.tapaskar@utsouthwestern.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMavacamten is a first-in class allosteric inhibitor of cardiac myosin that is shown to reduce left ventricular outflow tract obstruction and improves symptoms in obstructive hypertrophic cardiomyopathy (HCM). However, there have been limited studies of the use of mavacamten in nonsarcomeric forms of HCM, such as Noonan syndrome. CASE SUMMARY: This case report describes therapeutic benefit with mavacamten in a 26-year-old man with RAF1-associated Noonan syndrome and previous septal myectomy. DISCUSSION: This case represents one of the first reports of mavacamten use in RAF1-associated Noonan syndrome, a nonsarcomeric form of HCM, in a patient with recurrent obstruction after early septal myectomy. Treatment was associated with progressive reduction in left ventricular outflow tract gradients and symptomatic improvement, supporting myosin inhibition as a potential therapeutic strategy in syndromic HCM. TAKE-HOME MESSAGE: Mavacamten may be an effective treatment for obstructive HCM from RAF1-associated Noonan syndrome.

Indexed as

cardiomyopathychronic heart failuregenetic disorders

Identifiers

PMID42622590
PMCPMC13643557

What OpenQuestion holds

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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.