Peer-Reviewed Publication
JACC Case Rep2026;31(24):108337.June 17, 2026Case Reports
Early-Onset Vitreous and Cardiac Amyloidosis With TTR Trp61Leu.
Emily Li1, Steve L Liao2, Maria Giovanna Trivieri3, Peter Gorevic4, Veronica Fettig5, Anuradha Lala2, Alan Sheyman6, Susan Shin7, Noura S Abul-Husn8, Amy R Kontorovich9
1Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
2Fuster Heart Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
3Fuster 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.
4Division of Rheumatology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
5Fuster 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.
6Department of Ophthalmology, The Mount Sinai Hospital and New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
7Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
8Division 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.
9Fuster 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.
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 Trp61L…
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