2021
DOI: 10.3390/jcdd9010002
|View full text |Cite
|
Sign up to set email alerts
|

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Abstract: Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

0
5
0

Year Published

2022
2022
2024
2024

Publication Types

Select...
8

Relationship

2
6

Authors

Journals

citations
Cited by 11 publications
(7 citation statements)
references
References 30 publications
(32 reference statements)
0
5
0
Order By: Relevance
“…Two pipelines were used to identify the copy number variants (CNVs) based on ExomeDepth and one created in-house, as previously described [ 11 ]. All the CNVs detected by both pipelines were annotated by matching every call with the genes involved and related diseases and classified according to ACMG and ClinGen guidelines [ 12 ].…”
Section: Methodsmentioning
confidence: 99%
“…Two pipelines were used to identify the copy number variants (CNVs) based on ExomeDepth and one created in-house, as previously described [ 11 ]. All the CNVs detected by both pipelines were annotated by matching every call with the genes involved and related diseases and classified according to ACMG and ClinGen guidelines [ 12 ].…”
Section: Methodsmentioning
confidence: 99%
“…Beyond individual outcomes, an early and accurate diagnosis remains imperative for epidemiology and planning for healthcare systems ( Esquivel-Sada and Nguyen, 2018 ). Studies have demonstrated the utility of early and precise molecular diagnoses of newborns and children with RD to guide treatment and improve patient outcomes in the healthcare system ( Pezzoli et al, 2021 ; Smedley et al, 2021 ).…”
Section: Resultsmentioning
confidence: 99%
“…The correlation with LVNC has been corroborated by Mehaney et al [ 34 ], who reported the case of a 7-year-old male patient who was diagnosed at the age of 6 months with an overlapping phenotype of LVNC and DCM, and presented with a homozygous c.258del (p.Leu88Trpfs*27) mutation. The two distinct case series published in 2021 by Seidel et al [ 35 ] and Pezzoli et al [ 36 ] further consolidated the p.Arg69Alafs* and c.24+2T>A mutations as recurrent causes of early onset autosomal recessive DCM in four unrelated patients; notably, Seidel’s study was performed on a selected cohort of myocarditis patients, as was the case of Belkaya’s. Janin et al [ 37 ] reported the most extensive case series to date, supplemented by a very accurate phenotypic characterization.…”
Section: Discussionmentioning
confidence: 96%