Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Autor: Keisling J; Rugters, The State University of New Jersey, New Brunswick, NJ., Bedoukian E; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Burstein DS; Division of Pediatric Cardiology, University of Vermont Medical Center, Burlington, VT., Gaynor JW; Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA., Gray C; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Krantz I; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Leonard J; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Lin KY; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA., Medne L; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Seymour C; Rugters, The State University of New Jersey, New Brunswick, NJ., Skraban C; Division of Human Genetics, Individualized Medical Genetic Center, Children's Hospital of Philadelphia, Philadelphia, PA., Rippert AL; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: ahrensnicklasr@chop.edu.
Jazyk: angličtina
Zdroj: The Journal of pediatrics [J Pediatr] 2024 Feb; Vol. 265, pp. 113808. Date of Electronic Publication: 2023 Nov 03.
DOI: 10.1016/j.jpeds.2023.113808
Abstrakt: Objective: To assess the diagnostic yield of exome sequencing (ES) in pediatric cardiomyopathy.
Study Design: A single-institution, retrospective chart review of 91 patients with pediatric cardiomyopathy was performed. While pediatric cardiomyopathy is often genetic in nature, no genetic test is recommended as standard of care. All our patients were diagnosed with cardiomyopathy and evaluated by a medical geneticist between January 2010 through September 2022. Demographic information and clinical data were abstracted.
Results: Of 91 patients with pediatric cardiomyopathy, 36 (39.6%) received a diagnosis by ES. Twenty-two (61.1%) of these diagnoses would have been missed on cardiac multigene panel testing. The diagnostic yield for cardiomyopathy presenting under 1 year of age was 38.3%, while the yield for patients over 1 year of age was 41.9%.
Conclusions: ES has a high diagnostic yield in pediatric cardiomyopathy compared with a gene panel. Over 60% of patients with diagnosis by ES would not have received their molecular genetic diagnosis if only multigene panel testing was sent. Diagnostic yield did not vary significantly between the subtypes of cardiomyopathy and patient age groups, highlighting the likely clinical utility of ES for all pediatric cardiomyopathy patients.
Competing Interests: Declaration of Competing Interest Conflicts of Interest: The authors have no conflicts of interest to declare for this manuscript. Julia Keisling wrote the first draft of the manuscript. No honorarium, grant, or other form of payment was given to anyone to produce the manuscript. The authors declare no conflicts of interest.
(Copyright © 2023 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: