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Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation

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Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation. / Diaz-Gil, D; Carreon, CK; Silva-Gomez, N; Benheim, AE; Emani, SM; Del, Nido PJ; Marx, GR; Friehs, I.

In: FRONT CARDIOVASC MED, Vol. 9, 1041039, 30.11.2022, p. 1041039.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Diaz-Gil, D, Carreon, CK, Silva-Gomez, N, Benheim, AE, Emani, SM, Del, NPJ, Marx, GR & Friehs, I 2022, 'Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation', FRONT CARDIOVASC MED, vol. 9, 1041039, pp. 1041039. https://doi.org/10.3389/fcvm.2022.1041039

APA

Diaz-Gil, D., Carreon, CK., Silva-Gomez, N., Benheim, AE., Emani, SM., Del, N. PJ., Marx, GR., & Friehs, I. (2022). Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation. FRONT CARDIOVASC MED, 9, 1041039. [1041039]. https://doi.org/10.3389/fcvm.2022.1041039

Vancouver

Diaz-Gil D, Carreon CK, Silva-Gomez N, Benheim AE, Emani SM, Del NPJ et al. Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation. FRONT CARDIOVASC MED. 2022 Nov 30;9:1041039. 1041039. https://doi.org/10.3389/fcvm.2022.1041039

Bibtex

@article{faaeb17781ae4a0e87ebcef592f20558,
title = "Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation",
abstract = "This is the first description of active clinical manifestation of endocardial fibroelastosis (EFE) and remodeling of the endocardium via endothelial-to-mesenchymal transformation (EndMT) in an adolescent with Shone's variant hypoplastic left heart complex (HLHC) and a genetic heterozygous ABL1 variant. While EFE has not been typically associated HLHC or Shone's syndrome, in this patient flow alterations in the left ventricle (LV), combined with genetic alterations of intrinsic EndMT pathways led to active clinical manifestation of EFE in adolescence. This case emphasizes that new therapies for EFE might need to focus on molecular factors influenced by intrinsic and extrinsic stimuli of EndMT.",
author = "D Diaz-Gil and CK Carreon and N Silva-Gomez and AE Benheim and SM Emani and Del, {Nido PJ} and GR Marx and I Friehs",
year = "2022",
month = nov,
day = "30",
doi = "10.3389/fcvm.2022.1041039",
language = "English",
volume = "9",
pages = "1041039",
journal = "FRONT CARDIOVASC MED",
issn = "2297-055X",
publisher = "Frontiers Media S. A.",

}

RIS

TY - JOUR

T1 - Case report: Active clinical manifestation of endocardial fibroelastosis in adolescence in a patient with mitral and aortic obstruction-histologic presence of endothelial-to-mesenchymal transformation

AU - Diaz-Gil, D

AU - Carreon, CK

AU - Silva-Gomez, N

AU - Benheim, AE

AU - Emani, SM

AU - Del, Nido PJ

AU - Marx, GR

AU - Friehs, I

PY - 2022/11/30

Y1 - 2022/11/30

N2 - This is the first description of active clinical manifestation of endocardial fibroelastosis (EFE) and remodeling of the endocardium via endothelial-to-mesenchymal transformation (EndMT) in an adolescent with Shone's variant hypoplastic left heart complex (HLHC) and a genetic heterozygous ABL1 variant. While EFE has not been typically associated HLHC or Shone's syndrome, in this patient flow alterations in the left ventricle (LV), combined with genetic alterations of intrinsic EndMT pathways led to active clinical manifestation of EFE in adolescence. This case emphasizes that new therapies for EFE might need to focus on molecular factors influenced by intrinsic and extrinsic stimuli of EndMT.

AB - This is the first description of active clinical manifestation of endocardial fibroelastosis (EFE) and remodeling of the endocardium via endothelial-to-mesenchymal transformation (EndMT) in an adolescent with Shone's variant hypoplastic left heart complex (HLHC) and a genetic heterozygous ABL1 variant. While EFE has not been typically associated HLHC or Shone's syndrome, in this patient flow alterations in the left ventricle (LV), combined with genetic alterations of intrinsic EndMT pathways led to active clinical manifestation of EFE in adolescence. This case emphasizes that new therapies for EFE might need to focus on molecular factors influenced by intrinsic and extrinsic stimuli of EndMT.

U2 - 10.3389/fcvm.2022.1041039

DO - 10.3389/fcvm.2022.1041039

M3 - SCORING: Journal article

C2 - 36531727

VL - 9

SP - 1041039

JO - FRONT CARDIOVASC MED

JF - FRONT CARDIOVASC MED

SN - 2297-055X

M1 - 1041039

ER -