References:
1. Thorkelsson A, Chin MT. Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease. Int J Mol Sci. 2024;25(5):2826. Published 2024 Feb 29. doi:10.3390/ijms25052826
2. Ha C, Kim D, Bak M, et al. CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy. J Hum Genet. 2024;69(3-4):159-162. doi:10.1038/s10038-023-01218-1
3. Marcos AT, Amorós D, Muñoz-Cabello B, et al. A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset. Mol Genet Genomic Med. 2020;8(8):e1290. doi:10.1002/mgg3.1290
4. Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev. 2022;27(4):1173-1191. doi:10.1007/s10741-021-10139-0
5. Hafizi M, Chebotareva NA, Ghahramani M, et al. Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases. PLoS One. 2021;16(11):e0260306. Published 2021 Nov 29. doi:10.1371/journal.pone.0260306
6. Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503-3626. doi:10.1093/eurheartj/ehad194
7. Inagaki N, Hayashi T, Arimura T, et al. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006;342(2):379-386. doi:10.1016/j.bbrc.2006.01.154
8. van der Smagt JJ, Vink A, Kirkels JH, et al. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies. Clin Genet. 2014;85(4):381-385. doi:10.1111/cge.12169
9. Sanbe A, Osinska H, Saffitz JE, et al. Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis. Proc Natl Acad Sci U S A. 2004;101(27):10132-10136. doi:10.1073/pnas.0401900101
10. Maloyan A, Osinska H, Lammerding J, et al. Biochemical and mechanical dysfunction in a mouse model of desmin-related myopathy. Circ Res. 2009;104(8):1021-1028. doi:10.1161/CIRCRESAHA.108.193516
11. Maloyan A, Sanbe A, Osinska H, et al. Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation. 2005;112(22):3451-3461. doi:10.1161/CIRCULATIONAHA.105.572552
12. McDonagh TA, Metra M, Adamo M, et al. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure [published correction appears in Eur Heart J. 2021 Dec 21;42(48):4901. doi: 10.1093/eurheartj/ehab670]. Eur Heart J. 2021;42(36):3599-3726. doi:10.1093/eurheartj/ehab368
13. McDonagh TA, Metra M, Adamo M, et al. 2023 Focused Update of the 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure [published correction appears in Eur Heart J. 2024 Jan 1;45(1):53. doi: 10.1093/eurheartj/ehad613]. Eur Heart J. 2023;44(37):3627-3639. doi:10.1093/eurheartj/ehad195
14. Maddox TM, Januzzi JL Jr, Allen LA, et al. 2024 ACC Expert Consensus Decision Pathway for Treatment of Heart Failure With Reduced Ejection Fraction: A Report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2024;83(15):1444-1488. doi:10.1016/j.jacc.2023.12.024
15. Maloyan A, Gulick J, Glabe CG, Kayed R, Robbins J. Exercise reverses preamyloid oligomer and prolongs survival in alphaB-crystallin-based desmin-related cardiomyopathy. Proc Natl Acad Sci U S A. 2007;104(14):5995-6000. doi:10.1073/pnas.0609202104