- For Whom?
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CardioScreen-Cardiomyopathyand CardioScreen-Preventiontests are suitable for those that have in the family at least one case of
- sudden cardiac death (including sudden infant death)
- heart failure or transplant, suggesting a hereditary heart conditionFurthermore it is useful to investigate relatives of accidental deaths due to unknown circumstances, for example while driving, to evaluate if the event was due to a syncope or sudden cardiac death.
Analysis of the genealogical tree along with genetic screening can show how hereditary cardiac illnesses are transmitted and its degree of penetration among family members.
It is also a useful prevention method for:
• young adults (less than 40yrs) with idiopathic cardiac symptoms
• professional or non competitive sports also for people without heart diseases among relatives
• children and teenagers with a suspicious clinical QT or cardiac rhythm - What is diagnosed?
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CardioScreen-Prevention sudden cardiac arrestis a diagnostic test that evaluates using a multiple genetic analysis, if there are mutations associated with sudden cardiac death sine materia.
CardioScreen-Cardiomyopathyis a diagnostic test that evaluates using a multiple genetic analysis, if there are mutations associated with hereditary cardiomyopathy.
The two tests, using DNA analysis can establish the genetic risk of possible death related to cardiac events..
CardioScreen®
A diagnostic test that evaluates using a multiple genetic analysis, mutations associated with sudden cardiac death and hereditary cardiomyopathy
Procedure
The CardioScreentest is carried out with a blood sample. The DNA is isolated from the nucleated cells through a complex laboratory analysis and amplified via PCR. Then, with a state-of-the art process Massive Parallel Sequencing (MPS) that uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers, the following genes (exons and adjacent intrionic regions, ± 5 nucleotides) are sequenced:
43 genes (exons and adjacent intrionic regions, ± 5 nucleotides) related to hereditary cardiomyopathy for the CardioScreen-Cardiomyopathytest.
157 genes (exons and adjacent intrionic regions, ± 5 nucleotides) related to hereditary cardiac illnesses correlated with sudden cardiac arrest for the CardioScreen-Prevention sudden cardiac arresttest.
The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if there are any mutations.
What are the benefits of performing the test?
1. Finding family members with a high risk of hereditary cardiomyopathy or sudden cardiac arrest
2. The development of an adequate medical check plan for high-risk subjects, to promote using the most effective preventive measures (for example implant defibrillators or antiarrhythmia pharmacological treatment)
3. Awareness that the genetic mutations may be transferred to the offspring and the detection of high-risk offspring with germinal genetic mutations
Statistics
In developed countries, sudden cardiac deaths are more than 5% of all deaths and more than 50% of all deaths caused by a cardiovascular disease. Sudden cardiac death is found in 20-25% of the cases in healthy subjects and as the first manifestation of an unknown underlying illness. 5-10% of sudden death occurs in the absence of structural cardiac abnormalities in structurally normal hearts (sudden death sine materia), in the presence of electrophysiological problems that determine an unstable electrical response such as in the Long QT Syndrome, Brugada Syndrome (BS) and catecholaminergic polymorphic ventricular tachycardia (CPTV).
If CardioScreenhas a negative result
No mutations:
the results show no mutations in the examined genes. However, a negative result means that these people have the same risk as the general population, this is because not all forms of cardiomyopathy and sudden cardiac arrest are genetic.
If CardioScreenhas a positive result
Presence of one or more mutations:
the results show that there are one or more mutations in one (or more) genes leading to sudden cardiac arrests.
Mutations detectable through the CardioScreentest may be classified under the following prognostic categories:
• with a known prognostic outcome
• with a benign outcome since they may be detected in healthy individuals and are not associated with any pathological outcome
• with an uncertain outcome since they are not yet known or classified by the medical and scientific communitye
Accuracy and test limits
Present DNA sequencing techniques are more than 99% accurate. One must remember that:
CardioScreen-Cardiomyopathyevaluates only the genetic diseases and the genes listed in the previous reference Table.
CardioScreen-Preventionsudden cardiac arrest evaluates only the genetic diseases and the genes listed in the previous reference Table.
The test does not evaluate other genetic diseases or genes not listed.
A “NEGATIVE” result- (no mutations result for the examined genes) does not exclude the possibility that one is a carrier of a mutation that is in a region of the genome that was not explored during the examination. In some cases, the results of a genetic analysis can show a variation or a DNA mutation with a clinically uncertain result not yet known or classified by the medical and scientific community. The interpretation of genetic variations is based on the most recent knowledge available at the time of the analysis. Such an interpretation could change in the future when new scientific and medical information regarding the genome structure and could influence the evaluation of these variations
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