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Inherited Cardiac Diseases

Cardiac panels available

Swiss DNAlysis offers genetic tests developed by our experts in various fields. Our tests are constantly evolving based on the knowledge generated in various fields. If you want a custom genetic test or specific for some genes only, we can adjust the test for you, contact us here.

ARVC is a rare, familial heart-muscle disease that causes sudden death in young people and athletes. The disease is characterized by either massive or partial progressive replacement of myocardium by fatty or fibrofatty tissue.

Brugada Syndrome is characterized by typical ECG pattern of coved-type ST segment elevation with successive negative T wave in the right precordial leads (V1 to V3), high prevalence of conduction delays at different levels, and susceptibility to polymorphic ventricular tachyarrhythmias and sudden death.

Dilated cardiomyopathy (DCM) is a disorder of the heart, characterized by progressive systolic dysfunction of the ventricles, frequently resulting in congestive heart failure.

Fabry Disease (FD), Familial Amyloidosis, Danon Disease (DS), Hemochromatosis

Aortopathies are the hereditary diseases of the aortic artery which makes it susceptible to aneurysms at any level. An aneurysm is a localized arterial dilation which when untreated can culminate in catastrophic consequences such as dissection or rupture.

These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway.

CPVT is characterized by adrenergically mediated polymorphic Ventricular Tachycardia that may degenerate into cardiac arrest and cause sudden cardiac death in patients with structurally normal heart.

LQTS is characterized by QT prolongation on the ECG, increased propensity to develop recurrent syncope, seizures and ventricular arrhythmia of torsades de pointes conferring higher risk of sudden cardiac death (SCD) in individuals with structurally normal heart.

Pulmonary arterial hypertension (PAH) is a heterogeneous and rare disorder that can be classified into idiopathic and heritable forms, associated with an underlying condition such as connective tissue disease or congenital heart disease or related to specific drugs and toxins.

Progressive cardiac conduction disease (PCCD) is a slow, degenerative process that affects the cardiac conduction system at any level, with or without concomitant structural heart disease. Evidence suggests that PCCD has important genetic contribution.

Dyslipidemias are a group of metabolic disorders characterized by any or a combination of the following: elevated low density liporpotein (LDL), elevated total colesterol (TC), elevated triglicerides (TGL) or low high density lipoprotein (HDL).

Sudden cardiac death is the unexpected death that occurs within one hour due to cardiac arrhythmia. It is the main cause of natural death worldwide and 80% is due to ischemic heart disease.

LVNC cardiomyopathyis characterized by specific left ventricular morphology carachterized by numerous prominent trabeculations and deep intertrabecular recesses, as well as diminished systolic function with or without associated chamber dilation.

SQTS is an heritable cardiac channelopathy characterized by brief QT intervals on the ECG with increased susceptibility to atrial and ventricular arrhythmias and SCD. The prevalence of SQTS is estimated in 1:3000.

HCM is characterized by asymmetrical hypertrophy of the heart, with a predilection for the interventricular septum, and high degree of myocyte disarray in the absence of hemodynamic stresses sufficient to account for the degree of hypertrophy, and systemic conditions such as amyloidosis and glycogen storage disease, which have been associated with HCM phenocopies.