Testes Genéticos em Cardiologia (Genetic Testing for Cardiac Diseases 2025)

■ Genetic testing for heritable cardiovascular diseases in pediatric patients: A Scientific Statement From the American Heart Association

Andrew P. Landstrom, Jeffrey J. Kim, Bruce D. Gelb et al

Circ Genom Precis Med. 2021 Oct; 14(5): e000086.

https://pmc.ncbi.nlm.nih.gov/articles/PMC8546375/

■ Desafios e aplicações dos testes genéticos na cardiomiopatia dilatada: genótipo, fenótipo e implicações clínicas

S R Furquim, B Linnenkamp, N Q S Olivetti et al

Arq Bras Cardiol 2023, vol 120 (10): e20230174

https://www.scielo.br/j/abc/a/tzwdTw7M87HTnQyh6Yn7L8x/?lang=pt (portuguese)

https://www.scielo.br/j/abc/a/tzwdTw7M87HTnQyh6Yn7L8x/?lang=en (english)

■ European Heart Rhythm Association (EHRA(/Heart Rhythm Society (HRS)/ASIA Pacific Heart Rhythm Society (APHRS(/Latin American Heart Rhythm Society (LAHRS) expert consensus statment on the state of genetic testing for cardiac diseases

Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez et al

Europace. 2022 Aug; 24(8): 1307–1367

https://pmc.ncbi.nlm.nih.gov/articles/PMC9435643/

■ Clinical guideline for preimplantation genetic testing in inherited cardiac diseases

Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel et al

Circ Genom Precis Med. 2024 Apr; 17(2): e004416

https://pmc.ncbi.nlm.nih.gov/articles/PMC11019983/

■ Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey

Ivan Zeljkovic, Anaïs Gauthey, Martin Manninger, Katarzyna Malaczynska-Rajpold et al

Europace. 2024 Sep; 26(9): euae216.

https://pmc.ncbi.nlm.nih.gov/articles/PMC11411205/

■ Idiopathic ventricular fibrillation: is it a case for genetic testing?

N. van der Crabben, A. A. M. Wilde

Herzschrittmacherther Elektrophysiol. 2024; 35(1): 19–24

https://pmc.ncbi.nlm.nih.gov/articles/PMC10879354/

■ Cascade genetic counseling and testing in hereditary syndrome: inherited cardiovascular disease as a model: a narrative review

Laura A. Grutters, Imke Christiaans

Fam Cancer. 2024; 23(2): 155–164

https://pmc.ncbi.nlm.nih.gov/articles/PMC11153290/

■ The yield of genetic testing and putative genetic factors of disease heterogeneity in long QT syndrome patients

Anna Bukaeva, Alexandra Ershova, Maria Kharlap et al

Int J Mol Sci. 2024 Nov; 25(22): 11976

https://pmc.ncbi.nlm.nih.gov/articles/PMC11593843/

■ Genetic testing yield and clinical characteristics of hypertrophic cardiomyopathy in understudied ethnic groups: insignts from a nes Zealand National Registry

Nikki J. Earle, Annika Winbo, Jackie Crawford et al

Circ Heart Fail. 2024 Mar; 17(3): e010970

https://pmc.ncbi.nlm.nih.gov/articles/PMC10942243/

■ Primary electrical heart disease – principle of pathophysiology and genetics

Krzysztof Badura, Dominika Buławska, Bartłomiej Dąbek et al

Int J Mol Sci. 2024 Feb; 25(3): 1826.

https://pmc.ncbi.nlm.nih.gov/articles/PMC10855675/

■ Importance of genetic testing in unexplained cardiac arrest

Steffany Grondin, Brianna Davies, Julia Cadrin-Tourigny et al

Eur Heart J. 2022 Aug 21; 43(32): 3071–3081.

https://pmc.ncbi.nlm.nih.gov/articles/PMC9392649/

■ Síndrome de Brugada: Genética Médica (Brugada Syndrome: Medical Genetics)