Genetic Testing/methods

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Editorial

Targeted Screening of Familial Hypercholesterolemia in 11 Small Brazilian Cities: An Effective Approach to Detect Clusters of Affected Individuals

Maria Cristina Oliveira Izar et al. Francisco A. H. Fonseca

Familial hypercholesterolemia (FH) is an autosomal codominant disease associated with high levels of LDL-cholesterol and premature atherosclerotic cardiovascular disease. The condition is underrecognized, and screening tools must be implemented to improve diagnosis and promote early treatment. The screening methods include universal, selective, cascade, reverse cascade, and oportunistic screening;^, however, in small cities in certain regions, where founder effects can be present, target search for affected individuals can be an interesting option. The HipercolBrasil is a genetic cascade screening program carried out in the Heart Institute, with more than 2,000 patients identified with pathogenic variants, and from these results, index cases (IC) from small cities with pathogenic variants were selected to amplify the cascade. The program performs genetic tests for FH in individuals with confirmed LDL-C ≥ 210 mg/dL in two separate analyses: (IC) and in first-degree relatives of those in whom pathogenic or likely pathogenic variants were identified.

In our country, the recommendations for genetic testing follow the First Brazilian Guideline for Familial Hypercholesterolemia, endorsed by the Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021.

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Review Article

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Arsonval Lamounier Júnior et al. Filipe Ferrari Renato Max Luiz Eduardo Fonteles Ritt Ricardo Stein

Abstract

Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.

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Targeted Screening of Familial Hypercholesterolemia in 11 Small Brazilian Cities: An Effective Approach to Detect Clusters of Affected Individuals

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Abstract

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Electronic Document Format (Vancouver)

Electronic Document Format (ABNT)

Electronic Document Format (APA)

Electronic Document Format (ISO)