Genetic variants and cardiomyopathy, two clinical spectra of the same disease

Sonia del Carmen Chávez-Ocaña; César Daniel Alonso-Bello; Aholibama Estrada-Martínez; Carol Vivian Moncayo-Coello; Joanna Martínez-Castillo; Octavio Alberto Medel-Jiménez; María Isabel Rojo-Gutiérrez

2024, Number 4

Acta Med 2024; 22 (4)

Genetic variants and cardiomyopathy, two clinical spectra of the same disease

Chávez-Ocaña SC, Alonso-Bello CD, Estrada-Martínez A, Moncayo-Coello CV, Martínez-Castillo J, Medel-Jiménez OA, Rojo-Gutiérrez MI

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How to cite this article

10.35366/117531

Language: Spanish
References: 6
Page: 338-341
PDF size: 217.38 Kb.

ABSTRACT

Hypertrophic cardiomyopathy is an inherited heart muscle disease that affects about 1 in 500 people. The patient's symptoms may be minimal or relentlessly progressive, with resultant heart failure and/or sudden cardiac death. Alterations in the MYH7 gene have been reported as hypertrophic cardiomyopathy and dilated cardiomyopathy. We present two clinical cases with mutations identified in the MYH7 gene, one with the typical manifestation of hypertrophy related to systemic arterial hypertension and another with presentation as dilated cardiomyopathy.

REFERENCES

Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J et al. Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Sci Transl Med. 2019; 11 (476): eaat1199. doi: 10.1126/scitranslmed.aat1199.
Navarro Lo?pez F, Francino Batlle A, Miocardiopati?a hipertro?fica. Sociedad Española de Cardiología, Grupo Acción Médica, 1-12. Disponible en: https://secardiologia.es/images/publicaciones/libros/2009-sec-miocardiopatia-hipertrofica.pdf
GeneCards. The human gene database. MYH7 Gene - Myosin Heavy Chain 7. 2023. Disponible en: https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH7
Liu HT, Ji FF, Wei L, Zuo AJ, Gao YX, Qi L et al. Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance. Chin Med J (Engl). 2019; 132 (23): 2835-2841. doi: 10.1097/CM9.0000000000000428.
Rani DS, Vijaya Kumar A, Nallari P, Sampathkumar K, Dhandapany PS, Narasimhan C, et al. Novel Mutations in β-MYH7 Gene in Indian Patients with Dilated Cardiomyopathy. CJC Open. 2021;4(1):1-11. doi: 10.1016/j.cjco.2021.07.020.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I. Natural history of MYH7-related dilated cardiomyopathy. J Am Coll Cardiol. 2022; 80 (15): 1447-1461. doi: 10.1016/j.jacc.2022.07.023.