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

Daniel Diaz-Gil; Chrystalle Katte Carreon; Natalia Silva-Gomez; Alan E Benheim; Sitaram M Emani; Pedro J Del Nido; Gerald R Marx; Ingeborg Friehs

doi:10.3389/fcvm.2022.1041039

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. doi: 10.3389/fcvm.2022.1041039. eCollection 2022.

Authors

Daniel Diaz-Gil^{1

2}, Chrystalle Katte Carreon^{3

4}, Natalia Silva-Gomez¹, Alan E Benheim⁵, Sitaram M Emani¹, Pedro J Del Nido¹, Gerald R Marx⁶, Ingeborg Friehs¹

Affiliations

¹ Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
² Klinik für Kinderherzmedizin und Erwachsene mit angeborenen Herzfehlern, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Cardiac Registry, Department of Cardiology, Pathology, and Cardiac Surgery, Boston Children's Hospital, Boston, MA, United States.
⁴ Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
⁵ Division of Cardiology, Inova L.J. Murphy Children's Hospital, Falls Church, VA, United States.
⁶ Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

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.

Keywords: ABL1; endocardial fibroelastosis; endothelial-to-mesenchymal transformation; flow disturbance; hypoplastic left heart complex.

Publication types

Case Reports