The Restrictive Cardiomyopathy Panel is a comprehensive NGS panel that can be used to confirm a clinical diagnosis of restrictive cardiomyopathy or identify at-risk individuals. Restrictive cardiomyopathy is characterized by a stiffening of the heart muscle which causes blood in the heart to back up into the atria and lungs. Childrenaffected with this condition can present with failure to thrive, fatigue, ascites, fainting, and lung congestion. Adults may present with fatigue, shortness of breath, and heart palpitations. In the absence of treatment, affected children and adults are at risk of death due to heart failure, which can occur suddenly, even in the absence of other symptoms.
The exact prevalence of restrictive cardiomyopathy is unknown, although it is considered to be a rare condition, accounting for only 2-5% of all cardiomyopathy seen in children (Russo et al, 2005).
This panel includes genes associated with:
- Restrictive cardiomyopathy
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Left ventricular noncompaction
- Transthyretin (TTR) amyloidosis
Inheritance and Penetrance
Restrictive cardiomyopathy is typically inherited in an autosomal dominant fashion and, similarly to other cardiomyopathy syndromes, may exhibit reduced penetrance.
Disease causing mutations can be identified in approximately 35% of individuals with restrictive cardiomyopathy (Teekakirikul et al, 2013). The Restrictive Cardiomyopathy Panel includes all of common genetic causes related to this disease.
Methodology & Analytical Sensitivity
Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is 99.5%.
Indications for Testing
- Confirmation of a clinical diagnosis
- Unexplained cardiac arrest
- Risk assessment for asymptomatic family of members of proband with molecular diagnosis of restrictive cardiomyopathy
Included Genes (8)
Optional Additions to Restrictive Cardiomyopathy Panel
Emerging Evidence Genes (2)
Emerging evidence genes can also be added on to the comprehensive panel. These genes do not have a clear association with restrictive cardiomyopathy, but emerging evidence suggests that they may play a role in disease:
- Russo LM, Webber SA. Idiopathic restrictive cardiomyopathy in children. Heart. 2005;91(9):1199-202.
- Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013;15(2):158-70.