Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective | Zendy

Claudio Rapezzi | Zendy; Candida Cristina Quarta | Zendy; Laura Obici | Zendy; Federico Perfetto | Zendy; Simone Longhi | Zendy; Fabrizio Salvi | Zendy; Elena Biagini | Zendy; Massimiliano Lorenzini | Zendy; Francesco Grigioni | Zendy; Ornella Leone | Zendy; Francesco Cappelli | Zendy; Giovanni Palladini | Zendy; Paola Rimessi | Zendy; Alessandra Ferlini | Zendy; Giorgio Arpesella | Zendy; A.D. Pinna | Zendy; Giampaolo Merlini | Zendy; Stefano Perlini | Zendy

Open Access

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

Author(s) -

Claudio Rapezzi,

Candida Cristina Quarta,

Laura Obici,

Federico Perfetto,

Simone Longhi,

Fabrizio Salvi,

Elena Biagini,

Massimiliano Lorenzini,

Francesco Grigioni,

Ornella Leone,

Francesco Cappelli,

Giovanni Palladini,

Paola Rimessi,

Alessandra Ferlini,

Giorgio Arpesella,

A.D. Pinna,

Giampaolo Merlini,

Stefano Perlini

Publication year - 2012

Publication title -

european heart journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.336

H-Index - 293

eISSN - 1522-9645

pISSN - 0195-668X

DOI - 10.1093/eurheartj/ehs123

Subject(s) - medicine , cardiac amyloidosis , hypertrophic cardiomyopathy , transthyretin , amyloidosis , restrictive cardiomyopathy , ejection fraction , phenotype , cardiomyopathy , disease , differential diagnosis , cardiology , heart failure , pathology , genetics , biology , gene

Hereditary transthyretin (TTR)-related amyloidosis (ATTR) is mainly considered a neurologic disease. We assessed the phenotypic and genotypic spectra of ATTR in a Caucasian area and evaluated the prevalence, genetic background, and disease profile of cases with an exclusively cardiac phenotype, highlighting possible hints for the differential diagnosis with hypertrophic cardiomyopathy (HCM) and senile systemic amyloidosis (SSA).

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