The Activity of the Unit for Screening Studies in Inherited Cardiovascular Diseases
by Aleksandra Bąkała
On 1 Jan 2015, it has been five years since the Institute of Cardiology Unit for Screening Studies in Inherited Cardiovascular Diseases (USSICD) was established. Since 19 Mar 2014 the USSICD has been operating in its own separate location. There are 2147 patients and their relatives registered in the Unit. The largest groups of patients and their relatives with dilated cardiomyopathy (n=616), with aneurysm and thoracic aortic dissection (n=520), and other cardiomyopathies (n=306). The USSICD is also interested in explaining the causes of sudden (cardiac) death in the family, and in examining families of patients who have experienced a cardiac arrest.
In cooperation with the Medical Genetics Laboratory of the Warsaw Medical University, the Unit has begun genetic studies with the use of the next generation sequencing. The underlying hereditary causes were explained in more than 50 families with inherited cardiovascular diseases, predominantly with dilated cardiomyopathy and thoracic aortic aneurysm dissection (TAAD).
Since the Unit was established, it has provided 6233 cardiologist?s consultations, including 2056 in 2014. Additionally, 86 cardiogenetic consultations have been provided and relevant patients and their relatives were given their genetic study findings.
Apart from cardiologists, residents and nurses, the Unit employs a clinical geneticist as well as a bio-IT specialist. In 2014, the Unit was provided with its own computer station and exome sequence reading by cardiologists and geneticists was implemented.