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, Jahrgang 9, 1041039, 30.11.2022, S. 1041039.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -