Key result
Next-generation sequencing successfully identified variations in structural and channel genes, confirming the diagnosis of dilated cardiomyopathy in a 42-year-old woman.
Why the study?
Dilated cardiomyopathy is a common inherited disorder with genetic causes found in approximately 50% of cases, warranting evaluation of high-throughput sequencing for diagnosis and prevention.
Does whole-exome sequencing identify pathogenic genetic variants in familial dilated cardiomyopathy to enable cascade screening?
Case Report (n=1)
No
Does whole-exome sequencing identify pathogenic genetic variants in familial dilated cardiomyopathy to enable cascade screening?
Whole-exome sequencing can identify genetic variants in familial dilated cardiomyopathy, enabling cascade screening and personalized preventive management for at-risk relatives.
May support NGS for DCM diagnosis in select cases; hypothesis-generating for cascade screening utility.
Cardiomyopathies are heterogeneous and critical disorders of cardiovascular diseases. One of the most common inherited cardiomyopathies is DCM (dilated cardiomyopathy). Genetic disorders are found in approximately 50% of DCM cases. We aimed to describe a case of DCM in a 42-year-old woman in 2018 at Farhud Genetic Clinic, Tehran, Iran. To detect genetic involvement, Next-generation sequencing (NGS) was performed and the data were evaluated carefully. Variations in different genes coding crucial proteins in cardiac muscle structure (i.e. Titin, Obscurin, MYH6, and LAMA4) and proteins involved in channels (i.e. CAVNA1C, SCN1B and SCN5A) were detected by whole-exome sequencing (WES). In agreement with the clinical manifestations and molecular analysis, DCM was confirmed. This study provides further evidence on the diagnostic role of NGS in borderline DCM cases. It also shows the recently developed high throughput sequencing can provide clinicians with this approach to diagnosis, treatment, and prevention of such hard-to-diagnose disorders. Furthermore, this study highlights the basis of personalized medicine, namely detection of high-risk individuals by revealing some genetic variants as predictive risk factors, and initial prevention of DCM.
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Barati et al. (2021) conducted a case report in Dilated cardiomyopathy (n=1). Next-generation sequencing (NGS) was evaluated on Detection of genetic variations. Next-generation sequencing successfully identified variations in structural and channel genes, confirming the diagnosis of dilated cardiomyopathy in a 42-year-old woman.
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