SOPHiA DDM™ for Cardiology

Getting to the heart of inherited cardiac diseases
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Cardiac diseases are the #1 cause of death globally1,2. Genetic testing is frequently considered a key component of the clinical management process of inherited cardiac disorders, such as hypertrophic, dilated, and arrhythmogenic cardiomyopathies, aortopathies, and inherited arrhythmia syndromes3.



This approach is typically reserved for patients with a confirmed or suspected diagnosis of an inherited cardiac disease or individuals at high risk due to a previously identified pathogenic variant in their family.
NGS-based assays have the potential to identify disease-causing variants by simultaneously analyzing multiple genes, improving prognosis, and guiding the choice of the appropriate care options.



Despite the benefits of short turnaround time and cost-effectiveness of NGS tests, the main challenge relies on accurately and efficiently analyzing the large number of variants detected. Besides pathogenic variants, multiple variants, including variants of uncertain significance (VUS), can be detected, thus complicating the clinical decision-making process.
A universal health data analytics platform for a decentralized approach to healthcare
A universal health data analytics platform for a decentralized approach to healthcare
SOPHiA GENETICS solutions enable clinical researchers to quickly and confidently identify disease-causing genomic variants, facilitating the early discovery of multiple types of arrhythmias and cardiomyopathies. We offer a robust, scalable, end-to-end workflow (from sample to insights) to match your specific research laboratory needs. The adoption of the intuitive SOPHiA DDM™ analytical platform, which facilitates knowledge sharing among users, and pre-designed NGS-based applications helps laboratories streamline the variant interpretation process, reducing turnaround time and improving outcomes.
1 World Health Organization. (2020) ‘The top 10 causes of death’, 9 December [Online]. Available at: https://www.who.int/news-room/fact-sheets/detail/the-top-10-causes-of-death (Accessed: 23 April 2021)
2 Harvard Heart Letter. (2017) ‘The genetics of heart disease: an update’, Harvard Health Publishing, September.
3Ingles, J., Macciocca, I., Morales, A. & Thomson, K. Genetic testing in inherited heart diseases. Heart Lung Circ. 29, 505–511 (2020).
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Most common diseases covered by SOPHiA DDM™ for Cardiology


Arrhythmia
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Long / Short QT syndromes
  • Brugada syndrome (BRS)Arrhythmia
Cardiomyopathy
  • Hypertrophic cardiomyopathy (HCM)
  • Dilated cardiomyopathy (DCM)
  • Restrictive cardiomyopathy (RCM)
  • Left ventricular non-compaction (LVNC)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Streamlined workflow to accelerate variant analysis


In one experiment, the SOPHiA DDM™ for inherited cardiac diseases offers:

- Uniform coverage of the most relevant genes linked to cardiac disorders
- Accurate detection and annotation of single-nucleotide variants (SNVs), small insertion or deletion events (Indels), and copy number variations (CNVs)
- Simplified variant interpretation process with intuitive variant filter options (e.g., Virtual Panel and Cascading Filters), machine learning-based variant classification (complementing the ACMG ranking), and the possibility to gain and share knowledge on relevant variants with peers through global and local user networks.
Data pooling and knowledge sharing

Read more

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Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies. 
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Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction
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HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy
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A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death
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SOPHiA DDM™ for Rare and Inherited Disorders

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Quickly and accurately analyze the massive amount of data coming from your NGS-based applications (from multiple exome solutions) to identify variants associated with rare and inherited disorders.

Delivering deep, impactful insights to BioPharma

Leverage our broad real-world genomic database and AI driven analytics to support your clinical development strategy and:

  • gain insights into biomarker testing practices
  • streamline biomarker driven clinical trial enrollment
  • accelerate drug development process
A universal health data analytics platform for a decentralized approach to healthcare
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