■ 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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Maio 2023