There is much debate regarding screening for cardiac disease in our athletic population.
There is much debate regarding screening for cardiac disease in our athletic population. Prevalence of inherited cardiac disease is estimated at 3% in the general population. We try to screen for hypertrophic obstructive cardiomyopathy during cardiac auscultation with a Valsalva maneuver but we have no physical exam test for channelopathies.
Channelopathies are alterations in ion channels that can lead to arrhythmias and sudden cardiac death. Two of the most studied channelopathies are congenital long QT syndrome and Brugada syndrome (BrS). Less known are catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome.
Although the majority are inherited through an autosomal dominant mode, these arrhythmias are difficult to manage because they can be autosomal recessive or exist due to a sporadic mutation. This has led to developments in next generation sequencing techniques to detect mutations. The yield for genetic tests also varies based on arrhythmia type.
For example, Long QT syndrome testing provides a yield of 75% while short QT syndrome is less than 20%. The gold standard to detect mutations is direct DNA sequencing. However, due to its limitation in large scale gene sequencing, next generation DNA sequencing has been created to help overcome some of these barriers.
The purpose of these DNA sequencing advancements is to provide a commercially available genetic test for inherited cardiac diseases. Genetic tests are currently available for structural cardiomyopathies including hypertrophic cardiomyopathy, diastolic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Tests are also available for LQTS, Brugada Syndrome, CPVT, and short QT syndrome.
If you are experiencing symptoms that may be related to channelopathies and their role in sudden cardiac arrest, it is important to see a sports medicine physician. Early evaluation and treatment typically lead to better outcomes. Do not ignore pain or symptoms that are limiting your activity.
*This article is for educational purposes only and does not substitute for professional medical advice. Always consult a qualified healthcare provider.*
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