Key result
Whole exome sequencing identifies 3 damaging mutations linked to early-onset DCM and sudden cardiac death.
Why the study?
Early-onset sudden cardiac death is commonly associated with dilated cardiomyopathy induced by pathogenic genetic mutations, for which whole exome sequencing with targeted gene analysis serves as an effective diagnostic tool.
Population
1 24-year-old patient from a Chinese Han family with early-onset DCM and SCD
Design
Case report with genetic and bioinformatics analysis
Authors
Loading...
Does not support practice change from single case; hypothesis-generating for multigenic early-onset DCM/SCD.
Case Report (n=1)
Multiple heterozygous mutations in SYNE1, LDB3, and MYH6 may be associated with young and early-onset dilated cardiomyopathy and sudden cardiac death.
Zhao et al. (2021) conducted a case report in Dilated cardiomyopathy and sudden cardiac death (n=1). Whole exome sequencing was evaluated. Whole exome sequencing identified 3 damaging heterozygous mutations (LDB3, MYH6, SYNE1) associated with early-onset dilated cardiomyopathy and sudden cardiac death in a 24-year-old patient.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: