Evidence map›Paper›PMID 41043930›Full record

ArticleJACC. Case reports2025

A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis.

Jingwen Zhang, Lori R Roth, Isabel Wees, Lauren Phillips, Rose Pedretti, Pauline Nguyen, Lorena Saelices, Justin L Grodin

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

Article in JACC. Case reports, 2025. 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. 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

8 authors.

Jingwen ZhangDivision of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Lori R RothDivision of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Isabel WeesDivision of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Lauren PhillipsDepartment of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Rose PedrettiDepartment of Biophysics, Center for Alzheimer's and Neurodegenerative Diseases, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Pauline NguyenDepartment of Biophysics, Center for Alzheimer's and Neurodegenerative Diseases, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Lorena SaelicesDepartment of Biophysics, Center for Alzheimer's and Neurodegenerative Diseases, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Justin L GrodinDivision of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Electronic address: Justin.Grodin@utsouthwestern.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary transthyretin amyloidosis (ATTRv) is more typically associated with earlier onset and neurological symptoms compared with wild-type ATTR, although a very early, very symptomatic disease presentation is rare. CASE SUMMARY: A 21-year-old male with gastrointestinal distress and neuropathy underwent cardiac evaluation after gastrointestinal biopsies identified ATTR. Family history was notable for amyloidosis and premature deaths. Examination showed neurological deficits without clinical heart failure, and echocardiogram showed concentric left ventricular remodeling. TTR gene sequencing identified a rare pathogenic variant, p.Phe84Ser. Magnetic resonance imaging demonstrated diffuse leptomeningeal enhancement of the brain and spine. Treatment with vutrisiran and tafamidis was initiated. DISCUSSION: The p.Phe84Ser variant is strongly associated with central nervous system and gastrointestinal involvement. This patient had an early phenotypic presentation with leptomeningeal amyloidosis, which is exceedingly rare. TAKE-HOME MESSAGE: Understanding the phenotype associated with this ATTRv genotype, along with the patient's family history, guided targeted and timely evaluation and treatment.

Indexed as

ATTR cardiomyopathyATTRvgene sequencingleptomeningeal amyloidosisPhe84Servutrisiran

Identifiers

PMID41043930
PMCPMC12540296

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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.