SOPHiA DDM™ for Cardiovascular Diseases

Getting to the heart of genetic cardiac conditions

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The molecular characterization of genetic cardiovascular diseases is often challenging due to significant genetic and clinical heterogeneity. We bring more clarity to variants associated with cardiovascular diseases with our next-generation sequencing (NGS) applications.

Enhance your variant discovery with advanced analytics and dedicated features
Quickly and accurately detect variants associated with cardiovascular diseases in a single sample-to-report workflow
with the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.

Accurate CNV detection

The SOPHiA DDM™ Platform supports the accurate detection of copy number variations (CNVs) at exon-level resolution alongside single nucleotide variants (SNVs) and Indels in a single experiment, facilitating a fast and cost-effective workflow.

Comprehensive variant filtering

NGS sequencing potentially detects thousands of cardiovascular disease-associated variants for interpretation. Virtual Panels, Familial Variant Analysis, and Cascading Filters are user-friendly, time-saving features in the SOPHiA DDM™ Platform that facilitate the prioritization of variants for further analysis.

Clear visualization of variants

Alamut™ Visual Plus is a comprehensive, full genome browser, accessible both through SOPHiA DDM™ Platform and as a stand-alone product. Alamut™ Visual Plus is supported by world-renowned curated databases, guidelines, and splicing predictors, and allows visualization of GRCh37/38 assemblies and the mitochondrial genome, displaying flanking regions and overlapping genes.

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Applications for every workflow

Our Cardiovascular Disease Applications leverage the analytical capabilities of the SOPHiA DDM™ Platform for accurate and streamlined variant detection and assessment.

SOPHiA DDM™ Extended Cardio Solutions

Quickly and confidently characterize arrhythmias and cardiomyopathies with the SOPHiA DDM ™ Extended Cardio Solution. High-affinity probe design ensures high on-target rate and coverage uniformity, and SOPHiA DDM™ Platform provides 100% sensitivity and reproducibility with high confidence calling of SNVs, Indels, and CNVs.

A universal health data analytics platform for a decentralized approach to healthcare

Community Panels

Accelerate your analysis with cardiovascular disease panels pre-designed, developed, and tested by genomic experts. Our targeted, capture-based NGS Community Panels minimize set-up challenges with the flexibility to add or remove genes to meet your unique requirements.


A universal health data analytics platform for a decentralized approach to healthcare

Exome Applications

Our broad range of comprehensive exome applications allow deep exploration of clinical and whole exomes, including the mitochondrial genome. Virtual panels in the SOPHiA DDM™ Platform limit interpretation to a subset of genes for quicker initial screening of variants.

A universal health data analytics platform for a decentralized approach to healthcare

Custom Pipelines

Design and adopt an analytical solution or capture-based target enrichment kit that accurately analyzes genes relevant to your laboratory. Benefit from full consulting and set-up assistance for a fast and worry-free transition to routine variant analysis.

A universal health data analytics platform for a decentralized approach to healthcare

Genetic Cardiovascular Diseases

Cardiac channelopathies / arrhythmias

atrial fibrillation, Brugada syndrome (BRS), cardiac conduction disease, catecholaminergic polymorphic ventricular tachycardia (CPVT), early repolarization syndrome, long QT syndrome, short QT syndrome, sinus node disease (SND)


arrhythmogenic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction cardiomyopathy (LVNC), restrictive cardiomyopathy (RCM)

Familial hypercholesterolemia (FH)

Congenital heart disease


Loeys-Dietz syndrome, Marfan syndrome, thoracic aortic aneurysm (TAA) and dissection, vascular Ehlers-Danlos syndrome

Sudden cardiac death or unexplained cardiac arrest

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