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Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.
Orphanet J Rare Dis
December 2024
Department of Physical Medicine and Rehabilitation, Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No.45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.
Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.
View Article and Find Full Text PDFEvolving 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 PDF[Transthyretin cardiac amyloidosis patients in internal medicine : a 10-year retrospective study].
Rev Med Liege
December 2024
Service de Médicine Interne, HUS, Strasbourg, France.
Introduction: Transthyretin cardiac amyloidosis is a pathology increasingly encountered in all hospital departments, including internal medicine. The aim of our study is to describe the characteristics and care pathway of patients with transthyretin cardiac amyloidosis in internal medicine and to show that the number of patients diagnosed is increasing.
Methods: Descriptive, retrospective, non-interventional, single-center study at Strasbourg University Hospitals (HUS).
Amyloids and the Heart: An Update.
J Clin Med
November 2024
Department of Cardiology, University Hospital of Larissa, 41110 Larissa, Greece.
Amyloids consist of fibrils that can be formed by a large variety of different precursor proteins. In localized amyloidosis, amyloids accumulate at the production site with a single organ being affected, whereas in systemic amyloidosis several organs are affected, with the heart being the most common, followed by the kidneys, liver, and the nervous system. The two most frequent systemic amyloidosis types affecting the heart in the vast majority (>95%) of cases are immunoglobulin light chain (AL) amyloidosis and transthyretin (TTR) amyloidosis (ATTR amyloidosis).
View Article and Find Full Text PDF[Cluster analysis and analysis of risk factors for hereditary transthyretin amyloidosis cardiomyopathy].
Zhonghua Xin Xue Guan Bing Za Zhi
December 2024
Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing100730, China.
To explore the clinical characteristics and prognostic value in hereditary transthyretin amyloidosis cardiomyopathy (hATTR-CM) patients based on cluster analysis, and to explore the risk factors for cardiovascular composite events. This retrospective cohort study included hATTR-CM patients who were admitted to Peking Union Medical College Hospital from January 2000 to January 2024. These patients were divided into two clusters using cluster analysis, based on genetic information, demographic information and clinical information.
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