Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Background: The Val30Met (V30M) and Val122Ile (V122I) transthyretin (TTR) mutations often beget hereditary amyloid transthyretin amyloidosis (hATTR). Since symptoms are progressively debilitating and potentially fatal if untreated, low survival rates result from late diagnoses of hATTR patients. Thi...

Full description

Saved in:

Bibliographic Details
Main Authors:	Sameer U. Kini, Ha My Thi Vy, Madhav Subramanian, Parasuram M. Krishnamoorthy, Son Q. Duong, Ghislain Rocheleau, Jagat Narula, Ron Do, Girish N. Nadkarni
Format:	Article
Language:	English
Published:	Elsevier 2025-06-01
Series:	International Journal of Cardiology: Heart & Vasculature
Subjects:	Heart failure Symptom onset Phenome-Wide Association Study (PheWAS) Echocardiogram Inflammatory markers African American
Online Access:	http://www.sciencedirect.com/science/article/pii/S2352906725000661
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Investigation of potential toxicity associated with long-term amitriptyline exposure: Evidence from genomics
by: Jiachen Liu, et al.
Published: (2025-09-01)

Unsupervised Learning-Derived Complex Metabolic Signatures Refine Cardiometabolic Risk
by: Yujia Zhou, MD, et al.
Published: (2025-03-01)

Integrative multi-omics investigation of sleep apnea: gut microbiome metabolomics, proteomics and phenome-wide association study
by: Shuxu Wei, et al.
Published: (2025-06-01)

A sex-specific Mendelian randomization-phenome-wide association study of body mass index
by: Zhu Liduzi Jiesisibieke, et al.
Published: (2025-06-01)

Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics
by: Hanna Abe, et al.
Published: (2025-04-01)

Pathway insights and predictive modeling for type 2 diabetes using polygenic risk scores
by: Wen-Ling Liao, et al.
Published: (2025-08-01)

Statins for polycystic ovary syndrome in varying resource settings: a phenome-wide association study and evidence synthesis
by: Laura A. Zahn, et al.
Published: (2025-08-01)

Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer
by: Elisabeth A. Rosenthal, et al.
Published: (2025-07-01)

A study of impulsivity and adverse childhood experiences in a population health setting
by: Robert W. Read, et al.
Published: (2024-12-01)

Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient
by: E. S. Naumova, et al.
Published: (2018-04-01)

General Attitudes, Intelligibility, and Acceptability: How Philippine English Is Perceived by Filipino-Americans
by: Leah Gustilo, et al.
Published: (2025-05-01)

A General Overview of Transthyretin Cardiac Amyloidosis and Summary of Expert Opinions on Pre-Symptomatic Testing and Management of Asymptomatic Patients with a Focus on Transthyretin V122I
by: Khalid Sawalha, et al.
Published: (2025-02-01)

Phenome-wide association studies as a research tool for identifying new pathogenetic links
by: N. A. Mashkina, et al.
Published: (2025-02-01)

Morphological diversity determination of the tomato fruit collection (Solanum lycopersicum L.) by phenotyping based on digital images
by: Gonzalo Quispe-Choque, et al.
Published: (2022-08-01)

Non-Destructive Prediction of Apple Moisture Content Using Thermal Diffusivity Phenomics for Quality Assessment
by: Jung-Kyu Lee, et al.
Published: (2025-04-01)

Hereditary transthyretin amyloidosis
by: T. A. Adyan, et al.
Published: (2020-01-01)

Vutrisiran in Transthyretin Amyloidosis
by: Ronald M. Witteles, MD, et al.
Published: (2025-09-01)

Prospective Study of Prevalence and Clinical Determinants of Pulmonary Hypertension in Patients on Maintenance Hemodialysis
by: Jalal Ahmed, et al.
Published: (2023-07-01)

Precise 3D geometric phenotyping and phenotype interaction network construction of maize kernels
by: Shuaihao Zhao, et al.
Published: (2025-04-01)

Clinical case of allergic blepharoconjunctivitis in a girl after eyelash dyeing
by: T.V. Svyatenko, et al.
Published: (2025-04-01)

Advances in the treatment of transthyretin amyloidosis
by: Intissar Anan
Published: (2025-07-01)

The Effects of FR and UVA Irradiation Timing on Multi-Omics of Purple Lettuce in Plant Factories
by: Yubin Zhang, et al.
Published: (2024-11-01)

Morphophysiological Plant Phenotyping for the Development of Plant Breeding Under Drought and Heat Conditions: A Practical Approach
by: Félix Estrada, et al.
Published: (2025-01-01)

Multimodality cardiac evaluation in patients with Multisystem Inflammatory Syndrome in Children (MIS-C)
by: Hend Abu Shady, et al.
Published: (2025-07-01)

Coronary artery echocardiogram in the adult patient and its role in multimodality imaging: examples of different clinical settings and a case report
by: B. Kunev, et al.
Published: (2024-12-01)

Rare Case of Marantic Endocarditis in Metastatic Lung Adenocarcinoma
by: Anirudh Palicherla, et al.
Published: (2023-08-01)

Endocarditis Presenting as Right Atrial Mass, Diagnosed with 18F-Fluorodeoxyglucose-PET: A Case Report
by: Alexandra Ramos, et al.
Published: (2023-04-01)

Assessing the influence of plasma metabolites on chronic skin ulcer risk: a two-sample Mendelian randomization study
by: Zheng Ye, et al.
Published: (2025-03-01)

Kidney, the Cinderella Story of Transthyretin Amyloidosis
by: Nelson Leung
Published: (2025-06-01)

Clinical case of hereditary transthyretin amyloidosis
by: N. Spasova, et al.
Published: (2024-12-01)

PHYSICAL, PHYSIOLOGICAL, AND NUTRITIONAL CHARACTERIZATION OF SOYBEAN SEEDS AND CANONICAL INTERRELATIONS
by: Gabriel M. W. Bruinsma, et al.
Published: (2025-08-01)

Genomics, phenomics, and machine learning in transforming plant research: Advancements and challenges
by: Sheikh Mansoor, et al.
Published: (2025-03-01)

Phenome-wide association studies between SERINC2 and neuropsychiatric disorders
by: Ping Liu, et al.
Published: (2025-01-01)

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6
by: Blaine A. Bates, et al.
Published: (2025-04-01)

Echocardiographic Findings in Jordanian Atrial Fibrillation Patients: Analysis from Jo-Fib Study
by: Zaid A. Abdulelah, et al.
Published: (2025-02-01)

A Silent Dissection Complicating Myocardial Infarction: A Case Report
by: Adithya Shelley, et al.
Published: (2025-03-01)

Longitudinal assessment of systolic anterior motion of the mitral valve in cats with hypertrophic cardiomyopathy
by: Joonbum Seo, et al.
Published: (2024-11-01)

Temporal changes in prevalence and severity of pulmonary hypertension, and relationship to outcomes in coarctation of aorta
by: Ahmed Younis, et al.
Published: (2025-04-01)

Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis
by: Morie A. Gertz, et al.
Published: (2025-12-01)

A Clinical Case of the Hereditary Transthyretin Amyloidosis
by: E. V. Reznik, et al.
Published: (2021-05-01)