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Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy
Article

Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

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Department of Cardiology, Aarhus University Hospital, DK-8200 Aarhus, Denmark
2
Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark
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Department of Neurology, Aarhus University Hospital, DK-8200 Aarhus, Denmark
*
Author to whom correspondence should be addressed.
Academic Editor: George E. Louridas
Cardiogenetics 2022, 12(1), 1-11; https://doi.org/10.3390/cardiogenetics12010001
Received: 1 November 2021 / Revised: 15 December 2021 / Accepted: 28 December 2021 / Published: 4 January 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
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. View Full-Text
Keywords: transthyretin; amyloidosis; cardiomyopathy; genetics; TTR; ATTRv; ATTRm; DPD-scintigraphy transthyretin; amyloidosis; cardiomyopathy; genetics; TTR; ATTRv; ATTRm; DPD-scintigraphy
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MDPI and ACS Style

Rasmussen, T.B.; Ladefoged, B.T.; Dybro, A.M.; Clemmensen, T.S.; Sørensen, R.H.; Terkelsen, A.J.; Mølgaard, H.; Vase, H.; Poulsen, S.H. Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy. Cardiogenetics 2022, 12, 1-11. https://doi.org/10.3390/cardiogenetics12010001

AMA Style

Rasmussen TB, Ladefoged BT, Dybro AM, Clemmensen TS, Sørensen RH, Terkelsen AJ, Mølgaard H, Vase H, Poulsen SH. Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy. Cardiogenetics. 2022; 12(1):1-11. https://doi.org/10.3390/cardiogenetics12010001

Chicago/Turabian Style

Rasmussen, Torsten B., Bertil T. Ladefoged, Anne M. Dybro, Tor S. Clemmensen, Rikke H. Sørensen, Astrid J. Terkelsen, Henning Mølgaard, Henrik Vase, and Steen H. Poulsen. 2022. "Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy" Cardiogenetics 12, no. 1: 1-11. https://doi.org/10.3390/cardiogenetics12010001

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