Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?

doi:10.1080/13506120600877136

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

Community

Back to search

Article

Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Sept 2006

Rapezzi Claudio, Perugini Enrica, Salvi Fabrizio, Grigioni Francesco, Riva Letizia, Cooke Robin M T, Ferlini Alessandra, Rimessi Paola, Bacchi-Reggiani Letizia, Ciliberti Paolo, Pastorelli Francesca, Leone Ornella, Bartolomei Ilaria, Pinna Antonio D, Arpesella Giorgio, Branzi Angelo

Abstract excerpt

Transthyretin-related hereditary amyloidosis (ATTR) is genotypically/phenotypically heterogeneous. We investigated myocardial involvement in ATTR in a cohort of patients with a wide range of mutations. Clinical/echocardiographic follow-up of 41 consecutive symptomatic ATTR patients from a single referral center was analyzed according to TTR mutation. Diagnosis was based on histology, immunohistochemistry and...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to TTR gene

Share to Genetic Heterogeneity

Source

Open in PubMed

Identifiers

PMID: 17062380
DOI: 10.1080/13506120600877136

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?PMID 17062380Read ↗

Specificities of amyloid cardiomyopathy caused by transthyretin V30 mutation.Semantic proximity Read ↗

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS)Semantic proximity Read ↗

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.Semantic proximity Read ↗

Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.Semantic proximity Read ↗

Amyloid Cardiomyopathy in Hereditary Transthyretin V30M Amyloidosis - Impact of Sex and Amyloid Fibril CompositionSemantic proximity Read ↗

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.Semantic proximity Read ↗

Not So Rare After All: Rethinking Hereditary Transthyretin AmyloidosisSemantic proximity Read ↗

Transthyretin-related amyloidoses and the heart: a clinical overview.Semantic proximity Read ↗

Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association.Semantic proximity Read ↗

Transthyretin Amyloid Cardiomyopathy–2025 Update: Current Diagnostic Approaches and Emerging Therapeutic OptionsSemantic proximity Read ↗

Amyloid Cardiomyopathy.Semantic proximity Read ↗

ATTR Epidemiology, Genetics, and Prognostic FactorsSemantic proximity Read ↗

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