Evidence map›Paper›PMID 42138665›Full record

ArticleJACC. Case reports2026

Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu.

Emily Li, Steve L Liao, Maria Giovanna Trivieri, Peter Gorevic, Veronica Fettig, Anuradha Lala, Alan Sheyman, Susan Shin, Noura S Abul-Husn, Amy R Kontorovich

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.

Emily LiDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Steve L LiaoFuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Maria Giovanna TrivieriFuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Biomedical Engineering and Imaging Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Peter GorevicDivision of Rheumatology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Veronica FettigFuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Division of Pediatric Cardiology, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Anuradha LalaFuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Alan SheymanDepartment of Ophthalmology, The Mount Sinai Hospital and New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Susan ShinDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Noura S Abul-HusnDivision of Genomic Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA; 23andMe Research Institute, Palo Alto, California, USA.
Amy R KontorovichFuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: amy.kontorovich@mountsinai.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The pathogenic transthyretin (TTR) gene variant c.182G>T, p.Trp61Leu (Trp61Leu) was previously reported once, as variant transthyretin amyloidosis (ATTRv) manifesting with vitreous and cutaneous involvement, with symptom onset at age 42. We report updated clinical progression of Trp61Leu-associated ATTRv in an patient (the proband) and her 2 daughters, who represent the first known cases of Trp61Leu cardiac amyloidosis (CA) with onset before age 40. This early-onset CA stands in stark contrast to that observed with most other ATTRv genotypes and is further highlighted by the finding that technetium pyrophosphate scans were severely abnormal before any echocardiographic abnormalities became apparent. We also report an unrelated patient with wild-type germline TTR who developed ATTR after receiving the proband's transplanted liver through a domino procedure. Furthermore, vitreous amyloid preceded CA in 3 of 4 cases, highlighting an important and often overlooked "red flag" feature of ATTRv not addressed with existing transthyretin silencer or stabilizing therapies.

Indexed as

amyloidgenetictransthyretin

Identifiers

PMID42138665
PMCPMC13309724

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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.