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Predictive Modeling of Endocardial Fibroelastosis Recurrence in Patients with Congenital Heart Disease.
Diaz-Gil, Daniel; Silva-Gomez, Natalia; Morton, Sarah U; Seidman, Jonathan G; Seidman, Christine E; Zurakowski, David; Staffa, Steven J; Marx, Gerald R; Emani, Sitaram M; Del Nido, Pedro J; Friehs, Ingeborg.
Afiliación
  • Diaz-Gil D; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Boston University Chobanian & Avedisian School of Medici
  • Silva-Gomez N; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA.
  • Morton SU; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.
  • Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA, USA.
  • Seidman CE; Department of Genetics, Harvard Medical School, Boston, MA, USA; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Zurakowski D; Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Anesthesia, Harvard Medical School, Boston, MA, USA.
  • Staffa SJ; Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
  • Marx GR; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
  • Emani SM; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA.
  • Del Nido PJ; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA.
  • Friehs I; Department of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA. Electronic address: Ingeborg.Friehs@childrens.harvard.edu.
J Thorac Cardiovasc Surg ; 2024 Aug 27.
Article en En | MEDLINE | ID: mdl-39208926
ABSTRACT

OBJECTIVE:

Endocardial fibroelastosis (EFE) is a major effector in the maldevelopment of the heart in patients with congenital heart disease. Despite successful surgical removal, EFE can redevelop, but the underlying cause of EFE recurrence remains unknown.

HYPOTHESIS:

This study aimed to identify hemodynamic predictors and genetic links to epithelial/endothelial-to-mesenchymal transition (EMT/EndMT) alterations for preoperative risk assessment.

METHODS:

We assessed the impact of preoperative hemodynamic parameters on EFE recurrence in a cohort of 92 patients with congenital heart disease who underwent left ventricular (LV) EFE resection between January 2010 and March 2021. Additionally, whole-exome sequencing in 18 patients was used to identify rare variants (minor allele frequency <10-5) in high-expression heart genes (HHE) related to cardiac EMT/EndMT and congenital heart disease.

RESULTS:

EFE recurred in 55.4% of patients, within a medium 2.2 years post-surgery. Multivariable analysis revealed specific hemodynamic parameters (mitral valve inflow and area, LV filling pressure, and aortic valve gradient and diameter) as predictors, forming a predictive model with an AUC of 0.782. Furthermore, 89% of the patients exhibited damaging variants in HHE, with 38% linked to cardiac EMT/EndMT GO processes and 22% associated with known CHD genes. Notably, HHE genes associated with cardiac EMT/EndMT were significantly associated with faster EFE recurrence in multivariate analysis (HR 3.56, 95% CI 1.24-10.17, p=0.018).

CONCLUSIONS:

These findings established a predictive scoring system using preoperative hemodynamic parameters for EFE recurrence risk assessment. Alterations in HHE genes, particularly those linked to cardiac EMT/EndMT, exacerbate the risk of recurrence.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Thorac Cardiovasc Surg Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Thorac Cardiovasc Surg Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos