open access

Vol 80, No 4 (2022)
Short communication
Published online: 2022-02-17
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Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report

Tadeusz Osadnik12, Anna Frycz-Kurek3, Mateusz Lejawa1, Martyna Fronczek14, Justyna Małyszek-Tumidajewicz5, Wioletta Szczurek-Wasilewicz3, Karolina Macioł-Skurk3, Mariusz Gąsior6, Bożena Szyguła-Jurkiewicz6
DOI: 10.33963/KP.a2022.0052
·
Pubmed: 35176171
·
Kardiol Pol 2022;80(4):482-484.
Affiliations
  1. Department of Pharmacology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland
  2. 2nd Department of Cardiology and Angiology, Silesian Center for Heart Diseases, Zabrze, Poland
  3. 3rd Department of Cardiology, Silesian Center for Heart Diseases, Zabrze, Poland
  4. Kardio-Med Silesia, Zabrze, Poland
  5. Department of Cardiac, Vascular and Endovascular Surgery and Transplantology in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases, Zabrze, Poland
  6. 3rd Department of Cardiology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland

open access

Vol 80, No 4 (2022)
Short communication
Published online: 2022-02-17

Abstract

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Abstract

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Get Citation
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About this article
Title

Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 80, No 4 (2022)

Article type

Short communication

Pages

482-484

Published online

2022-02-17

Page views

251

Article views/downloads

132

DOI

10.33963/KP.a2022.0052

Pubmed

35176171

Bibliographic record

Kardiol Pol 2022;80(4):482-484.

Authors

Tadeusz Osadnik
Anna Frycz-Kurek
Mateusz Lejawa
Martyna Fronczek
Justyna Małyszek-Tumidajewicz
Wioletta Szczurek-Wasilewicz
Karolina Macioł-Skurk
Mariusz Gąsior
Bożena Szyguła-Jurkiewicz

References (11)
  1. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35(39): 2733–2779.
  2. Pysz P, Rajtar-Salwa R, Smolka G, et al. Mavacamten — a new disease-specific option for pharmacological treatment of symptomatic patients with hypertrophic cardiomyopathy. Kardiol Pol. 2021; 79(9): 949–954.
  3. Team RC. R: A Language and Environment for Statistical Computing [Internet]. Vienna: R Foundation for Statistical Computing; 2019. Available online: https: //www.r-project.org/ (Access: January 2022).
  4. Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, et al. Genetics of hypertrophic cardiomyopathy: A review of current state. Clin Genet. 2018; 93(1): 3–14.
  5. Loar RW, Bos JM, Will ML, et al. Genotype-phenotype correlations of hypertrophic cardiomyopathy when diagnosed in children, adolescents, and young adults. Congenit Heart Dis. 2015; 10(6): 529–536.
  6. Steriotis AK, Sharma S. Risk stratification in hypertrophic cardiomyopathy. Eur Cardiol. 2015; 10(1): 31–36.
  7. Kuusisto J. Genetics of hypertrophic cardiomyopathy: what is the next step? Heart. 2020; 106(17): 1291–1292.
  8. Teekakirikul P, Zhu W, Huang HC, et al. Hypertrophic cardiomyopathy: an overview of genetics and management. Biomolecules. 2019; 9(12).
  9. Fujino N, Ino H, Hayashi K, et al. et al.. A novel missense mutation in cardiac ryanodine receptor gene as a possible cause of hypertrophic cardiomyopathy: Evidence from familial analysis. Circulation. 2006; 114(18): II-165–915.
  10. Landstrom AP, Ackerman MJ. Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. Curr Mol Med. 2012; 12(5): 507–518.
  11. Alvarado FJ, Bos JM, Yuchi Z, et al. Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2. JCI Insight. 2019; 5.

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