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© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Genotyping divides transthyretin cardiac amyloidosis (ATTR-CA) in hereditary (ATTRv) and wild type (ATTRwt) forms. This study investigated the prevalence and clinical presentation of ATTRv in a contemporary cohort of consecutive ATTR-CA patients diagnosed at a tertiary Danish amyloidosis center. Age at diagnosis, clinical- and echocardiographic data, and transthyretin (TTR) genotype were recorded. Relatives of ATTRv patients underwent clinical phenotyping and predictive gene testing. Genetic testing in 102 patients identified four TTR variant carriers: p.Pro63Ser, p.Ala65Ser (n = 2) and p.Val142Ile. The mean age of ATTRv index patients was significantly lower compared to ATTRwt patients: 70.2 ± 1.2 versus 80.0 ± 6.2, p-value: 0.005. Evaluation of ATTRv families identified seven TTR variant carriers with a median age of 65 years (range 48–76) and three were diagnosed with ATTR-CA by DPD-scintigraphy. Family members with ATTR-CA were all asymptomatic and had normal levels of cardiac biomarkers. In conclusion, the prevalence of ATTRv in a contemporary Danish ATTR-CA cohort is 4%. ATTRv index patients were significantly younger age at diagnosis than ATTRwt patients. Non-p.Leu131Met TTR variants have reduced penetrance at the age of 65 years in which approximately half of variant carriers have asymptomatic ATTR-CA with normal LV systolic function and cardiac biomarker analyses.

Details

Title
Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy
Author
Rasmussen, Torsten B 1   VIAFID ORCID Logo  ; Ladefoged, Bertil T 1   VIAFID ORCID Logo  ; Dybro, Anne M 1 ; Clemmensen, Tor S 1 ; Sørensen, Rikke H 2   VIAFID ORCID Logo  ; Terkelsen, Astrid J 3 ; Mølgaard, Henning 1 ; Vase, Henrik 1 ; Poulsen, Steen H 1 

 Department of Cardiology, Aarhus University Hospital, DK-8200 Aarhus, Denmark; [email protected] (B.T.L.); [email protected] (A.M.D.); [email protected] (T.S.C.); [email protected] (H.M.); [email protected] (H.V.); [email protected] (S.H.P.) 
 Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark; [email protected] 
 Department of Neurology, Aarhus University Hospital, DK-8200 Aarhus, Denmark; [email protected] 
First page
1
Publication year
2022
Publication date
2022
Publisher
MDPI AG
ISSN
20358253
e-ISSN
20358148
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2655560119
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.