Timely detection and diagnosis of heart disorders can lead to enhanced treatment options and improve prognosis. Having identified genetic variants associated with cardiology diseases in over 200 different genes, we can support you in providing your patients with a precise diagnosis of a cardiovascular disease. Testing can also identify asymptomatic and at-risk family members, facilitating precautions or interventions to prevent illness or sudden death.
Articles on Cardiovascular
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Novel X-linked Syndrome Identified
Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an…
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A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic…
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One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was…
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Epidemiology of a Rare Protein Aggregation Disorder
Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates are being tested in clinical trials. CENTOGENE’s active contributions to this field are demonstrated…
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Novel Causes for Heart Malformations
An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a…