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Articles tagged with Cardiology CentoPedia

  • TRAM - Screening for Hereditary Transthyretin Related Amyloidosis

    Transthyretin (TTR) amyloidosis (A-TTR) is a rare protein misfolding, autosomal dominant inherited disease with variable penetrance. It presents with a wide spectrum of clinical manifestations.

  • Dilated cardiomyopathy

    Cardiomyopathies are disorders with primary abnormalities in the structure and function of the heart. Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and resulting contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal, sarcomere, and…

  • Hypertrophic cardiomyopathy

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both sexes and of various racial and ethnic origins. The incidence of HCM is approximately 1 in 500 in the general population. HCM is most commonly caused by pathogenic variants in one of…

  • Arrhythmia, hereditary

    Sudden unexplained death is a major source of mortality in developed countries; the major causes (in the absence of the structural heart disease) are primary cardiac arrhythmia syndromes or electrical cardiac diseases ('channelopathies').

  • Arrhythmogenic right ventricular cardiomyopathy

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is a heritable heart-muscle disorder which causes progressive replacement of right ventricular myocardium by fibrofatty tissue. ARVD is an important cause of sudden cardiac death (SCD) in young adults, accounting for 22% of cases…

  • Long QT syndrome

    Long QT syndrome (LQTS) is a rare cardiac disease associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. LQTS is a cardiac electrophysiologic disorder, characterized by…

  • Catecholaminergic polymorphic ventricular tachycardia

    Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is a pathological disorder triggered by intense physical exercise or acute emotional stress. These conditions could initiate abnormal heartbeat (ventricular tachycardia) which then leads to dizziness, syncope, and in worst cases sudden…

  • BioFabry - Biomarker for Fabry Disease

    Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease character-ized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cere-brovascular manifestations. Annual incidence is reported to be 1 in 80,000 live births but this figure may…

  • BioPompe - Biomarker for Pompe disease

    Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited, and often fatal disorder that disables the heart and muscles. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other patients by an early…


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