Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Journal of the American Heart Association - 3 Dec 2024

Bhatt Kunal, Delgado Diego H, Khella Sami, Bumma Naresh, Karam Chafic, Keller Andrew, Rosen Andrew M, Bozas Ana, Shea Amy, Towne Meghan C, Polfus Linda M, Kaeser Gwendolyn E, Sanjurjo Victoria, Shah Keyur B

Abstract excerpt

BACKGROUND: Diagnosis of hereditary amyloid transthyretin (hATTR) amyloidosis with cardiomyopathy is frequently delayed, in large part because of symptom overlap with other cardiovascular diseases and limited provider knowledge of this disease. The sponsored and provider referred hATTR Compass Genetic Testing Program (Ionis, Carlsbad, CA; Ambry Genetics, Aliso Viejo, CA) provided no-cost genetic testing to adults...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Canada

Share to Cross-Sectional Studies

Share to Genetic Testing

Share to Prealbumin

Share to Referral and Consultation

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 39575713
DOI: 10.1161/JAHA.123.033770
PMCID: PMC11681574

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.PMID 39575713Read ↗

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health RecordsSemantic proximity Read ↗

DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis.Semantic proximity Read ↗

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.Semantic proximity Read ↗

[Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis].Semantic proximity Read ↗

Transthyretin Cardiac Amyloidosis in Black Americans.Semantic proximity Read ↗

Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis: A Retrospective Single-Center Cohort Study.Semantic proximity Read ↗

Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UKSemantic proximity Read ↗

Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Semantic proximity Read ↗

Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.Semantic proximity Read ↗

Genotype-Phenotype Correlations in ATTR Amyloidosis: A Clinical Update.Semantic proximity Read ↗

A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).Semantic proximity Read ↗

Prevalence, Characteristics and Outcomes of Older Patients with Hereditary Versus Wild-Type Transthyretin Amyloid CardiomyopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.