1 - Centro Hospitalar Universitário de Lisboa Central, EPE / Hospital de D. Estefânia; 2- Instituto de Ciências Biomédicas Abel Salazar
- Poster no Congresso Português de Cardiologia, 2024
Resumo:
Background: Inherited cardiomyopathies and arrhythmias (ICAs) are a heterogeneous and prevalent group of genetic diseases that affect the function and structure of the heart muscle. ICAs are also an important cause of morbidity and mortality, particularly heart failure and sudden cardiac death at a young age and often without any previous symptoms. Family screening with clinical evaluation and genetic testing enables early identification of at-risk relatives, impacting the prevention and surveillance of these patients.Aim: To evaluate how often genetic counselling and testing are performed after identification of a (likely) pathogenic variant in a symptomatic patient with ICAs, assessment of current strategy of family screening and to analyze the yield of genetic testing.
Methods: Retrospective review of data from probands with clinical and molecular confirmed diagnosis of ICAs and their relatives referred for genetic evaluation to our Genetics Department (2016-2022) in a Portuguese tertiary hospital.Results: After evaluation of 65 probands diagnosed with ICAs, a total of 396 relatives were eligible for counselling on predictive DNA testing (273 first-degree and 123 second-degree relatives). Only 88 attended genetic consultation during the first year after genetic testing was performed on the proband, and in total of 190 (48%) relatives were evaluated. The average time that the relatives attended the consultation is 567 days (7 days – 3837 days). Almost every relative that received genetic counselling underwent genetic testing (99,15%), and 58% of these were genotype-positive. Overall, 168 relatives (88%) were phenotypenegative at the first appointment and 22 (12%) were phenotype-positive. The percentage of the uptake to the genetic consultation is 51%.
Conclusion: Our results showed that almost half of at-risk relatives are not adequately screened, which prompts urgente discussion and reevaluation of actual cascade screening protocols. Molecular genetic testing is a fundamental step of the clinical care of patients with ICAs. Adequate genetic counselling, pre-test and after test, is fundamental to successful cascade screening of family members. Predictive genetic testing of at-risk relatives is crucial for early disease and adequate follow-up.
Palavras Chave: Inherited cardiomyopathies; Genetic Counseling