<h2><span style="color: #993300;">List of cardiovascular diseases, related to sudden cardiac death, included in the panel</span></h2>
<p>&nbsp;</p>
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<p><strong>Condition</strong></p>
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<td style="width: 14.3923%; height: 10px; text-align: center;" width="130">
<p><strong>Prevalence</strong></p>
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<td style="width: 23.7708%; height: 10px; text-align: center;" width="175">
<p><strong>Diagnostic yield by DNA sequencing</strong></p>
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<td style="width: 66.2996%; height: 46px;">
<h4><span style="color: #ff6600;"><strong>Aortopathies</strong></span></h4>
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<td style="width: 14.3923%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<td style="width: 23.7708%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<p>Familial Thoracic Aortic Aneurysm and Dissection (FTAAD)</p>
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<td style="width: 14.3923%; height: 10px; text-align: center;" width="130">
<p>Unknown</p>
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<td style="width: 23.7708%; height: 10px; text-align: center;" width="175">
<p>25%</p>
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<h4><span style="color: #ff6600;"><strong>Channelopathies</strong></span></h4>
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<p>&nbsp;</p>
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<td style="width: 23.7708%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<p>Brugada syndrome</p>
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<td style="width: 14.3923%; height: 49px; text-align: center;" width="130">
<p>1:2 500</p>
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<td style="width: 23.7708%; height: 49px; text-align: center;" width="175">
<p>25 &ndash; 30%</p>
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<td style="width: 66.2996%; height: 49px;" width="216">
<p>Short QT syndrome</p>
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<td style="width: 14.3923%; height: 49px; text-align: center;" width="130">
<p>1:10 000</p>
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<td style="width: 23.7708%; height: 49px; text-align: center;" width="175">
<p>20 &ndash; 30%&nbsp;</p>
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<td style="width: 66.2996%; height: 49px;" width="216">
<p>Long QT syndrome</p>
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<td style="width: 14.3923%; height: 49px; text-align: center;" width="130">
<p>1:2 000</p>
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<td style="width: 23.7708%; height: 49px; text-align: center;" width="175">
<p>70 &ndash; 75%</p>
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<td style="width: 66.2996%; height: 64px;" width="216">
<p>Catecholaminergic polymorphic ventricular tachycardia</p>
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<td style="width: 14.3923%; height: 64px; text-align: center;" width="130">
<p>1:10 000</p>
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<td style="width: 23.7708%; height: 64px; text-align: center;" width="175">
<p>55 &ndash; 65%</p>
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<td style="width: 66.2996%; height: 46px;">
<h4><span style="color: #ff6600;"><strong>Cardiomyopathies</strong></span></h4>
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<p>&nbsp;</p>
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<td style="width: 23.7708%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<p>Arrhythmogenic right ventricular cardiomyopathy</p>
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<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>1:5 000</p>
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<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>40 &ndash; 60%</p>
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<td style="width: 66.2996%; height: 18px;" width="216">
<p>Dilated cardiomyopathy</p>
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<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>1:250</p>
</td>
<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>20 &ndash; 30%</p>
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<td style="width: 66.2996%; height: 22px;" width="216">
<p>Hypertrophic cardiomyopathy</p>
</td>
<td style="width: 14.3923%; height: 22px; text-align: center;" width="130">
<p>1: 5 000</p>
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<td style="width: 23.7708%; height: 22px; text-align: center;" width="175">
<p>30 &ndash; 50%</p>
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<td style="width: 66.2996%; height: 18px;" width="216">
<p>Non-compaction cardiomyopathy</p>
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<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>Unknown</p>
</td>
<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>Unknown</p>
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<h4><span style="color: #ff6600;"><strong>Lipidemias</strong></span></h4>
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<td style="width: 14.3923%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<td style="width: 23.7708%; text-align: center; height: 46px;">
<p>&nbsp;</p>
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<td style="width: 66.2996%; height: 18px;" width="216">
<p>Familial Hypercholesterolemia</p>
</td>
<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>1:200 &ndash; 1:250</p>
</td>
<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>60 &ndash; 80%</p>
</td>
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<td style="width: 66.2996%; height: 46px;">
<h4><span style="color: #ff6600;"><strong>RASopathies</strong></span></h4>
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<td style="width: 14.3923%; text-align: center; height: 46px;">
<p>&nbsp;</p>
</td>
<td style="width: 23.7708%; text-align: center; height: 46px;">
<p>&nbsp;</p>
</td>
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<td style="width: 66.2996%; height: 18px;" width="216">
<p>Cardiofaciocutaneous syndrome</p>
</td>
<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>1:1 000 &ndash; 1:2 500</p>
</td>
<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>Unknown</p>
</td>
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<tr style="height: 18px;">
<td style="width: 66.2996%; height: 18px;" width="216">
<p>Noonan syndrome</p>
</td>
<td style="width: 14.3923%; height: 18px; text-align: center;" width="130">
<p>1:1 000 &ndash; 1:2 500</p>
</td>
<td style="width: 23.7708%; height: 18px; text-align: center;" width="175">
<p>Unknown</p>
</td>
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<p><span style="font-size: 8pt;"><br /><strong>References:</strong><br />Campuzano, et. al. <em>Genetic variants as sudden-death risk markers in inherited arrhythmogenic syndromes: personalized genetic interpretation</em>. Journal of Clinical Medicine, 2020.<br /></span><span style="font-size: 8pt;"><a href="https://thefhfoundation.org/familial-hypercholesterolemia/what-is-familial-hypercholesterolemia">https://thefhfoundation.org/familial-hypercholesterolemia/what-is-familial-hypercholesterolemia</a>, accessed on October, 2021.<br /></span><span style="font-size: 8pt;">McKenna, W. J. and Judge, D. P. <em>Epidemiology of the inherited cardiomyopathies</em>. Nature Reviews | Cardiology, 2020.<br /></span><span style="font-size: 8pt;"><a href="https://rasopathiesnet.org/rasopathies/">https://rasopathiesnet.org/rasopathies/</a>, accessed on October, 2021.<br /></span><span style="font-size: 8pt;">Mital, et. al. <em>Enhancing literacy in Cardiovascular Genetics: a scientific statement from the American Heart Association</em>. Circulation: Cardiovascular Genetics, 2016.<br /></span><span style="font-size: 8pt;">Campuzano, et. al. <em>Recent Advances in Short QT Syndrome</em>. Frontiers in Cardiovascular Medicine, 2018.</span></p>
<p>&nbsp;</p>
<h2><span style="color: #800080;"><img style="display: block; margin-left: auto; margin-right: auto;" src="https://cms.athlete.dnafiles.health/storage/uploads/2021/10/28/athlete2x_uid_617abe98f2360.svg" alt="" width="66" height="58" /></span></h2>
<h2><span style="color: #800080;"><span style="color: #993300;">Criteria for selecion of the diseases and genes</span><br /></span></h2>
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<p>The selection of diseases and genes included in DNA.files ATHLETE panel was carried out by our team of Molecular and Clinical Geneticists, based on the following criteria:</p>
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<h4><span style="color: #ff6600;"><strong>Definitive gene-disease association</strong></span></h4>
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<p>Well-stablished scientific and clinical evidences showing that mutations in the gene X result in the disease Y.</p>
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<h4><span style="color: #ff6600;"><strong>Cardiovascular diseases</strong></span></h4>
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<p>All diseases in the DNA.files ATHLETE panel are pathologies that affect the heart and/or blood vessels.</p>
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<h4><span style="color: #ff6600;"><strong>Clinically actionable diseases</strong></span></h4>
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<p class="column">If a disease-causing mutation is detected, the athlete must have a personalised follow-up by his/her cardiologist, in order to better monitor, prevent or mitigate the development of the disease, through timely and effective clinical interventions. For example, by adopting specific lifestyle habits, pharmacological treatments, periodic clinical follow-ups, and adapting the type and intensity of physical exercise.</p>
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Cardiovascular diseases

Screening for DNA alterations in 62 genes responsible for causing 12 hereditary heart conditions.

cardiovascular-diseases

athlete@2x.svg

Screening for hereditary cardiovascular diseases.

Prevention is the first step towards a heart full of health.