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Cardiomyopathies: The importance of genetic testing in the elderly
Session:
Sessão de Posters 34 - Medicina Cardiovascular: Para além dos cardiologistas
Speaker:
Micaela Oliveira
Congress:
CPC 2024
Topic:
P. Other
Theme:
37. Miscellanea
Subtheme:
28.1 Risk Factors and Prevention – Epidemiology
Session Type:
Cartazes
FP Number:
---
Authors:
Micaela Oliveira; Rafael Graça; Diana Antunes; Catarina Silveira; Yuri Chiodo; Maria Carmo-Fonseca
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="font-family:"Arial",sans-serif">Cardiomyopathies are a heterogeneous group of pathologies characterised by structural and functional alterations of the heart. The determination of their aetiology is crucial for the management of index patients and their relatives. The prevalence of hypertrophic cardiomyopathy (HCM, 1:500) and dilated cardiomyopathy (DCM, 1:250) may be underestimated in the general population, in part due to their common late-onset. Therefore, it is important to consider a genetic aetiology of cardiomyopathies in the elderly: genetic testing can play a critical role in family screening and in the prevention of multiple disease-related complications. </span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><span style="font-family:"Arial",sans-serif">In this work, we present a retrospective observational analysis of genetic testing, between January 2020 and December 2023, in patients over 65 years old, with suspected cardiomyopathies. The mean age of the studied cohort (n=255) was 72 years old and the focus of the study was to identify the genetic diagnostic success rate of these patients. It was observed that, of the 255 index cases under study, 17.65% (n=45) obtained a positive result, with a pathogenic or likely pathogenic genetic variant that could explain their phenotype. Among these positive cases, 57.78% (n=26) had a HCM phenotype, whereas 26.67% (n=12) showed a DCM phenotype. Accordingly, around 58.70% of the variants were found in sarcomeric genes, namely in the <em>MYBPC3</em>, <em>MYH7</em>, <em>MYL2</em>, <em>TNNT2</em> and <em>TPM1</em> genes, being known that pathogenic and likely pathogenic variants in these genes are frequently associated with HCM. The remaining variants, mainly detected in patients with DCM, were located in other genes, such as the <em>FLNC</em>, <em>LMNA</em>, <em>PKP2</em>, <em>RYR2</em>, <em>TTN</em> and <em>TTR</em> genes. The other 210 patients presented a high percentage of variants of uncertain significance. However, additional studies are still required to investigate their pathogenicity and the consequent possible justification of the phenotype of their carriers. </span></span></span></p> <p><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">Taken together, these results reinforce the importance of the genetic testing of cardiomyopathies in the elderly, not only to effectively treat the affected patients, but also to provide the appropriate </span></span><span style="font-size:11.0pt"><span style="font-family:"Arial",sans-serif">genetic counselling for their family members.</span></span></p>
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