Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00246-022-03086-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evolving knowledge of "red flag" clinical features associated with TTR p.(Val142Ile) in a diverse electronic health record-linked biobank.
Genet Med
December 2024
The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:
Purpose: Previous studies have established "red flags" that raise clinical suspicion for the hereditary form of transthyretin amyloidosis (ATTRv). However, these have not been specifically evaluated for the most common associated variant, TTR p.(Val142Ile).
View Article and Find Full Text PDFPrevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Muscle Nerve
February 2025
Colorado Center for Personalized Medicine, Aurora, Colorado, USA.
Introduction/aims: Hereditary transthyretin amyloidosis (ATTRv) is a genetic condition caused by pathogenic variants in the transthyretin (TTR) gene resulting in multisystem amyloid deposition, especially in peripheral nerve and heart. Information on the prevalence of ATTRv in the United States is limited. The objective of this study was to understand the prevalence and genetic ancestry in the Val142Ile population in a large regional US population.
View Article and Find Full Text PDFPrevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.
JAMA Cardiol
November 2024
Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London, United Kingdom.
Article Synopsis
- * Conducted with data from the UK Biobank, which included extensive genetic, electrocardiogram, and imaging data from nearly 470,000 participants, the study found that 0.1% carried likely pathogenic TTR variants.
- * Results showed a significant difference in variant prevalence based on ancestry, with a 0.02% prevalence in individuals of European ancestry versus 4.3% in those of African ancestry, highlighting the need for more targeted research and awareness.
Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of V142I with Heart Failure and/or Arrhythmia.
J Pers Med
February 2024
Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, USA.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive systemic disease involving the extracellular deposition of misfolded transthyretin protein. The hereditary subtype is caused by mutations in the transthyretin ( gene. An estimated 2-3% of individuals of African American (AA) ancestry carry the p.
View Article and Find Full Text PDFCase Report: A rare homozygous patient affected by systemic amyloidosis with a prominent heart involvement.
Front Cardiovasc Med
August 2023
Clinical Neurology Unit, ASST Santi Paolo e Carlo, Department of Neuroscience, University of Milan, Milan, Italy.
Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!