Publications by authors named "Natalia Silva-Gomez"

Article Synopsis
  • Endocardial fibroelastosis (EFE) is a condition often seen in patients with congenital heart disease that can reoccur even after surgical removal; the reasons for this recurrence are not well understood.* -
  • A study with 92 patients undergoing left ventricular EFE resection analyzed preoperative hemodynamic factors and performed genetic sequencing to find links to EFE recurrence; results showed a 55.4% recurrence rate within about 2.2 years post-surgery.* -
  • Specific heart-related hemodynamic parameters were identified as predictors of recurrence, and damaging genetic variants in heart-related genes linked to cell transition processes were found to increase the risk, leading to a new predictive scoring system for assessing EFE recurrence
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This is the first description of active clinical manifestation of endocardial fibroelastosis (EFE) and remodeling of the endocardium 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.

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