Case Report

A Case Report of Genetic Cascade Screening in Dilated Cardiomyopathy: A Perspective for Preventive Cardiology

Abstract

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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IssueVol 50 No 12 (2021) QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/ijph.v50i12.7943
Keywords
Next-generation sequencing Cardiomyopathies Personalized medicine Molecular targeted therapy
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Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Barati Z, Farhud D, Nixdorff U, Mohammadhasani M, Eslami M, Nayerniya K. A Case Report of Genetic Cascade Screening in Dilated Cardiomyopathy: A Perspective for Preventive Cardiology. Iran J Public Health. 2021;50(12):2593-2598.