ArticleJournal of medical case reports2025
A mutation in transthyretin gene in a Mexican patient leading to hereditary amyloidosis: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTransthyretin is a protein produced by the liver, and when normal, it carries out the role of transporting thyroid hormone and vitamin A in the body. Mutations in the gene that codes for this protein can cause it to misfold. A misfolded protein can not carry out its functions and can also build up in different organs leading to a group of diseases known as amyloidosis. Depending upon the site in which this protein accumulates, a large variety of symptoms can be seen. If the protein deposits in the heart, it can lead to heart failure and associated symptoms and is known as cardiac amyloidosis. If in the nerves, it can lead to neuropathy and tingling and numbness and so on. Due to the various symptom's transthyretin amyloidosis can present with, it is difficult to keep it on the differential and diagnose the disease, as suspicions for it should be high. We would like to use this case report to help raise awareness about hereditary transthyretin amyloidosis. CASE PRESENTATION: A 66-year-old Mexican male patient with a family history significant for hereditary amyloidosis presented with intermittent chest pain, shortness of breath, and neurological symptoms. An echocardiogram done at an outside hospital showed an ejection fraction of 55-60% with grade 2 diastolic dysfunction. A technetium pyrophosphate scan was used to make the diagnosis of transthyretin amyloidosis, and genetic testing showed that the patient was heterozygous for p.G67A (also known as c.2000G > C) pathogenic mutation in the transthyretin (TTR) gene. Due to these findings the patient was started on tafamidis free acid 61 mg daily and vutrisiran (Amvuttra) injections. He was also given vitamin A supplementation to prevent vutrisiran-associated vitamin A deficiency, which is a known side effect.
conclusionsA high index of suspicion is required for diagnosing transthyretin amyloidosis. This case will help raise awareness among physicians regarding the presence of the G67A mutation in Mexican patients and its management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.