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A Case Report of Genetic Cascade Screening in Dilated Cardiomyopathy: A Perspective for Preventive Cardiology
Zeinab Barati1,2,3, Dariush Farhoud4,5, Uwe Nixdorff6
1Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
Insights
Next-generation sequencing (NGS) confirmed dilated cardiomyopathy (DCM) in a patient with borderline clinical findings. This genetic analysis aids in diagnosing and preventing inherited heart muscle disorders.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a common inherited heart muscle disorder, with genetic factors implicated in approximately 50% of cases.
- Accurate diagnosis of DCM can be challenging, particularly in borderline clinical presentations.
Observation:
- A case study of a 42-year-old woman with suspected DCM at Farhud Genetic Clinic, Tehran, Iran.
- Whole-exome sequencing (WES) was employed to identify genetic variations.
- Detected genetic variations in genes crucial for cardiac muscle structure (e.g., Titin, Obscurin, MYH6, LAMA4) and ion channels (e.g., CAVNA1C, SCN1B, SCN5A).
Findings:
- Molecular analysis, including WES, confirmed the diagnosis of DCM.
- NGS proved effective in the genetic diagnosis of a borderline DCM case.
- Identified specific gene variations associated with DCM in the patient.
Implications:
- Highlights the diagnostic utility of NGS and high-throughput sequencing in challenging DCM cases.
- Supports the role of genetic testing in personalized medicine for DCM, enabling risk stratification and preventative strategies.
- Demonstrates how genetic insights can guide diagnosis, treatment, and prevention of inherited cardiomyopathies.
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.
