An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

Cristian Orlando Porras Bueno; Roberto Hernando Cruz Buitrago; Mariño Correa Alejandro; Edward Andres Cáceres Méndez; Eugenio Meek; Edgar Giovanni Ríos Dueñas

doi:10.1002/ccr3.70213

An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

Cristian Orlando Porras Bueno
, Roberto Hernando Cruz Buitrago
, Mariño Correa Alejandro
, Edward Andres Cáceres Méndez
, Eugenio Meek
, Edgar Giovanni Ríos Dueñas

Pontificia Universidad Javeriana
Hospital Universitario San Ignacio

Producción: Contribución a una revista › Artículo › revisión exhaustiva

Resumen

Several diseases have been linked to αB-crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that hasbeen associated in recent years with the development of dilated cardiomyopathy. We report a case of dilated cardiomyopathy withrestrictive physiology due to a CRYAB mutation.

Idioma original	Inglés
Páginas (desde-hasta)	1-6
Número de páginas	6
Publicación	Clinical Case Reports (discontinued)
Volumen	13
N.º	3
DOI	https://doi.org/10.1002/ccr3.70213 https://doi.org/10.1002/ccr3.v13.3
Estado	Publicada - 01 mar. 2025
Publicado de forma externa	Sí

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Porras Bueno, C. O., Cruz Buitrago, R. H., Alejandro, M. C., Cáceres Méndez, E. A., Meek, E., & Ríos Dueñas, E. G. (2025). An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature. Clinical Case Reports (discontinued), 13(3), 1-6. https://doi.org/10.1002/ccr3.70213, https://doi.org/10.1002/ccr3.v13.3

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title = "An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature",

abstract = "Several diseases have been linked to αB-crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that hasbeen associated in recent years with the development of dilated cardiomyopathy. We report a case of dilated cardiomyopathy withrestrictive physiology due to a CRYAB mutation.",

keywords = "alpha- crystallin B chain, cardiomyopathies, case reports, dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy",

author = "\{Porras Bueno\}, \{Cristian Orlando\} and \{Cruz Buitrago\}, \{Roberto Hernando\} and Alejandro, \{Mari{\~n}o Correa\} and \{C{\'a}ceres M{\'e}ndez\}, \{Edward Andres\} and Eugenio Meek and \{R{\'i}os Due{\~n}as\}, \{Edgar Giovanni\}",

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doi = "10.1002/ccr3.70213",

language = "English",

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Porras Bueno, CO, Cruz Buitrago, RH, Alejandro, MC, Cáceres Méndez, EA, Meek, E & Ríos Dueñas, EG 2025, 'An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature', Clinical Case Reports (discontinued), vol. 13, n.º 3, pp. 1-6. https://doi.org/10.1002/ccr3.70213, https://doi.org/10.1002/ccr3.v13.3

An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature. / Porras Bueno, Cristian Orlando; Cruz Buitrago, Roberto Hernando; Alejandro, Mariño Correa et al.
En: Clinical Case Reports (discontinued), Vol. 13, N.º 3, 01.03.2025, p. 1-6.

Producción: Contribución a una revista › Artículo › revisión exhaustiva

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T1 - An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

AU - Porras Bueno, Cristian Orlando

AU - Cruz Buitrago, Roberto Hernando

AU - Alejandro, Mariño Correa

AU - Cáceres Méndez, Edward Andres

AU - Meek, Eugenio

AU - Ríos Dueñas, Edgar Giovanni

PY - 2025/3/1

Y1 - 2025/3/1

N2 - Several diseases have been linked to αB-crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that hasbeen associated in recent years with the development of dilated cardiomyopathy. We report a case of dilated cardiomyopathy withrestrictive physiology due to a CRYAB mutation.

AB - Several diseases have been linked to αB-crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that hasbeen associated in recent years with the development of dilated cardiomyopathy. We report a case of dilated cardiomyopathy withrestrictive physiology due to a CRYAB mutation.

KW - alpha- crystallin B chain

KW - cardiomyopathies

KW - case reports

KW - dilated cardiomyopathy

KW - hypertrophic cardiomyopathy

KW - restrictive cardiomyopathy

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U2 - 10.1002/ccr3.70213

DO - 10.1002/ccr3.70213

M3 - Article

SN - 2050-0904

VL - 13

SP - 1

EP - 6

JO - Clinical Case Reports (discontinued)

JF - Clinical Case Reports (discontinued)

IS - 3

ER -

Porras Bueno CO, Cruz Buitrago RH, Alejandro MC, Cáceres Méndez EA, Meek E, Ríos Dueñas EG. An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature. Clinical Case Reports (discontinued). 2025 mar. 1;13(3):1-6. doi: 10.1002/ccr3.70213, 10.1002/ccr3.v13.3

An Unusual Case of 11αB-Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

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