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Molecular studies in familial dilated cardiomyopathy - A pilot study
Vyom Mori1, J P S Sawhney1, I C Verma2
1Department of Cardiology, Sir Ganga Ram Hospital, New Delhi 110060, India.
Insights
Genetic variants are common in familial dilated cardiomyopathy, with Titin gene mutations being most frequent. Next-generation sequencing and cascade testing are recommended for early detection and monitoring.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Medicine
Background:
- Familial dilated cardiomyopathy (FDC) is a significant cause of heart failure.
- Identifying genetic underpinnings is crucial for diagnosis and management.
- Previous studies highlight the heterogeneity of genetic causes in FDC.
Purpose of the Study:
- To investigate the spectrum of genetic variants in patients diagnosed with familial dilated cardiomyopathy.
- To determine the prevalence of pathogenic variants in a cohort of FDC patients.
- To identify common genes associated with FDC in the studied population.
Main Methods:
- A pilot study included 20 patients meeting diagnostic criteria for FDC.
- Exclusion of secondary causes of dilated cardiomyopathy was performed.
- Next-generation sequencing (NGS) was employed to analyze blood samples for genetic variants.
Main Results:
- Pathogenic variants were detected in 70% of the FDC patients (14 out of 20).
- A total of 16 different pathogenic variants were identified.
- The most frequently implicated genes were Titin, Filamin, Lamin, and Desmosomal genes, with sarcomeric mutations accounting for 32%.
Conclusions:
- Next-generation sequencing is a valuable tool for identifying genetic variants in familial dilated cardiomyopathy.
- Titin gene mutations are a primary cause of FDC in this cohort.
- Cascade testing in first-degree relatives of affected individuals is recommended for early detection and monitoring.
Aim:
To study genetic variants in patients of familial dilated cardiomyopathy.
Methodology:
Patients with reduced ejection fraction of less than 45% and dilated left ventricle are considered to have dilated cardiomyopathy. Clinical history was taken and possible secondary causes of dilated cardiomyopathy were excluded. Family history of ≥2 affected relatives or sudden cardiac death in a relative with age less than 35 years were included. Such patients blood sample were sent for next generation sequencing and analysed for presence of genetic variants.
Results:
As part of pilot study 20 patients (44% were female and 66% were male) were included. There was presence of 16 different pathogenic variants in 14 patients. Two patients had more than one variants in them. Most common of which were sarcomeric mutations constituting 32%. Titin followed by Filamin, Lamin and Desmosomal where the most commonly repeated mutations.
Discussion:
In our patients of familial dilated cardiomyopathy, 70% were detected to have pathogenic variants in them. Most common variations were seen on Titin gene. Thus those with familial dilated cardiomyopathy should be considered for next generation sequencing. First degree relatives of those with pathogenic variants should be screened using cascade testing for earlier detection and disease monitoring in them.
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