Evidence map›Paper›PMID 36204818›Full record

ArticleMolecular genetics & genomic medicine2022

Genetic variants in Colombian patients with inherited cardiac conditions.

Cynthia Rucinski, Luz Karime Yunis, Fernando Rosas, David Santacruz, Juan Manuel Camargo, Juan José Yunis

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Cynthia RucinskiGrupo de Patología Molecular, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.ORCID 0000-0003-2259-7867
Luz Karime YunisGrupo de Patología Molecular, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.
Fernando RosasFundación Clínica Shaio, Bogotá, Colombia.
David SantacruzFundación Clínica Shaio, Bogotá, Colombia.
Juan Manuel CamargoFundación Clínica Shaio, Bogotá, Colombia.
Juan José YunisGrupo de Patología Molecular, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundClinical and molecular diagnosis of inherited cardiac conditions is key to find at-risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac conditions.

methodsNext-generation sequencing (Illumina platform) using a 231 gene panel was performed in blood samples of 25 unrelated patients with age disease onset between 9 and 55 years.

resultsGenetic testing yield was 52%. Two novel likely pathogenic/ pathogenic variants were found: a DSP nonsense variant in a patient with arrhythmogenic cardiomyopathy and a KCNE1 frameshift variant in two patients with long QT syndrome. Younger individuals (<18 years) had the highest genetic testing yield (66.6%) compared to 50% and 20% in young adults and patients over 40 years, respectively. All subjects affected with long QT syndrome with a severe event while exercising had a positive genetic test. They also had four times more loss of consciousness events and, resuscitated sudden cardiac arrest was more representative.

conclusionThis study is the first one undertaken in Colombia to evaluate inherited cardiac conditions. It highlights the need to perform mutational analysis to provide adequate genetic counseling and to be able to identify patients at risk of severe events.

Indexed as

Death, Sudden, CardiacLong QT SyndromeAdolescentAdultChildColombiaGenetic CounselingGenetic TestingHumansMiddle AgedYoung Adultarrhythmogenic cardiomyopathyBrugada syndromeColombiahypertrophic cardiomyopathylong QT syndrome

Identifiers

PMID36204818
PMCPMC9651603

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