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Cardiologia: Testes Genéticos (Cardiology: Genetic Testing)

Por Paulo Leite 09/05/2023

■ Genetic testing and counselling in hypertrophic cardiomyopathy: frequently asked questons

Francesca Girolami, Alessia Gozzini, Eszter Dalma Pálinkás et al

J Clin Med. 2023 Apr; 12(7): 2489

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095452/

■ Importância do teste genético na miocardiopatia dilatada: aplicações e desafios na prática clínica

A Lamonunier Junior, F Ferrari, R Max et al

Arq Bras. Cardiol 2019, vol 113 (2)

https://www.scielo.br/j/abc/a/Vr34J4y4DpkZSjynPQYrSKd/?lang=pt (portuguese)

https://www.scielo.br/j/abc/a/Vr34J4y4DpkZSjynPQYrSKd/?lang=en7 (english)

■ Genetic testing in familial hypercholesterolemia: Is it for everyone?

M. Medeiros, M. Bourbon

Curr Atheroscler Rep. 2023; 25(4): 127–132

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027780/

■ European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC9435643/

■ Diagnostic yield of genetic testing in heart transplant recipientes with prior cardiomyopathy

Hanne M. Boen, Bart L. Loeys, Maaike Alaerts, et al

J Heart Lung Transplant. 2022 Sep; 41(9): 1218–1227

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512016/

■ 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8546375/

■ The multifaced perspective of genetic testing in pediatric cardiomyopathies and channelopathies

Nicoleta-Monica Popa-Fotea, Cosmin Cojocaru, Alexandru Scafa-Udriste et al

J Clin Med. 2020 Jul; 9(7): 2111

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408669/

■ Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing

Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis et al

JAMA Cardiol. 2022 Sep; 7(9): 966–974

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366660/

■ Role of genetic testing in cardiomyopathies: a primer for cardiologists

Georgia Vogiatzi, George Lazaros, Evangelos Oikonomou et al

World J Cardiol. 2022 Jan 26; 14(1): 29–39

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788175/

■ Genetic evaluation of cardiomyopathy – A Heart Failure Society of America Practice Guideline

R E Hershberger, M M Givertz, C Y Ho et al

J Card Fail. 2018 May; 24(5): 281–302

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903357/

■ Genetics of cardiomyopathy: clinical and mechanistic implications for heart failure

Kyung-Hee Kim, Naveen L. Pereira

Korean Circ J. 2021 Oct; 51(10): 797–836

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484993/

■ Precision cardiovascular Medicine: State of genetic testing

John R. Giudicessi, Iftikhar J. Kullo, Michael J. Ackerman

Mayo Clin Proc. 2017 Apr; 92(4): 642–662

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364981/

■ Interpretation of incidental genetic findings localizing to genes associated with cardiac channelopathies and cardiomyopathies

Jordan E. Ezekian, Catherine Rehder, Priya S. Kishnani, Andrew P. Landstrom

Circ Genom Precis Med. 2021 Aug; 14(4): e003200

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375606/

■ Genetic causes of cardiomyopathy in children: first results from the pediatric cardiomyopathy genes study

Stephanie M. Ware, James D. Wilkinson, Muhammad Tariq, et al

Pediatric Cardiomyopathy Registry Study Group

J Am Heart Assoc. 2021 May 4; 10(9): e01773

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8200745/

■ Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

T T Koopmann, Y Jamshidi, M Naghibi-Sistani et a

Eur J Hum Genet 2023, vol 31 (1): 97-104

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9823012/

■ Genetic counselling and testing in pulmonar arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung et al

Eur Respir J. 2023 Feb; 61(2): 2201471

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947314/

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■ Médico Responsável: Dr Paulo Fernando Leite

CRMMG: 7026

Belo Horizonte/MG/Brasil

Email: pfleite1873@gmail.com

Maio 2023

Câncer de Próstata: Testes Genéticos (Prostate Cancer: Genetic Testing)

Por Paulo Leite 08/05/2023

– A próstata é uma glândula exócrina, anexa ao aparelho genital masculino. Tem por finalidade armazenar e secretar um fluído alcalino que em conjunto com os espermatozoides constitui parte do sêmen. Devido a isso, ele tem sido alvo de inúmeras pesquisas, entre as quais se descobriu sua relação com a hereditariedade. Sabe-se que o câncer decorre de alterações em oncogênese, em genes pertencentes ao grupo supressor tumoral ou em genes do grupo que repara o DNA.

■ Delivering genetic testing for patients with prostate cancer: moving beyond provider knowledge as a barrier to care

Christine M. Gunn, Emma X. Li, Gretchen A. Gignac, et al

Cancer Control. 2023 Jan-Dec; 30: 10732748221143884

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037728/

■ Internet-based germline genetic testing for men with metastatic prostate cancer

Heather H. Cheng, Alexandra O. Sokolova, Roman Gulati, et al

JCO Precis Oncol. 2023 Jan; 7: e2200104

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928882/

■ Genetic aspects and molecular testing in prostate cancer: a report from a Dutch multidisciplinar consensus meeting

Niven Mehra, Iris Kloots, Michiel Vlaming et al

Eur Urol Open Sci. 2023 Mar; 49: 23–31

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9975012/

■ Modern paradigms for prostate cancer detection and management

Isabella SC Williams, Aoife McVey, Sachin Perera, et al

Med J Aust. 2022 Oct; 217(8): 424–433

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828197/

■ An appraisal of genetic testing for prostate cancer susceptibility

A Finch, R Clark, D Vesprini et al

NPJ Precis Oncol 2022, vol 6: 43

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217944/

■ Genomic, epigenomic, and transcriptomic signatures of prostate cancer between African American and European American patients

Claire Stevens, Alexandria Hightower, Sarah G. Buxbaum et

Front Oncol. 2023; 13: 1079037

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018228/

■ CanRisk-Prostate: a comprehensive, externally validated risk model for the prediction of future prostate cancer

Tommy Nyberg, Mark N. Brook, Lorenzo Ficorella et al

J Clin Oncol. 2023 Feb 10; 41(5): 1092–1104

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928632/

■ Câncer de próstata: fator da hereditariedade, biologia molecular das neoplasias de próstata, prevenção e diagnóstico

A D R Nuens, V S Bottos, J C L L Bizinotto, M Cheirubim

Corpus Hipocraticum 2020, vol 2 (1)

https://revistas.unilago.edu.br/index.php/revista-medicina/article/view/425