Importance of family cascade screening and genetics in aortic or coronary dissections, single-center study
A Krebsova, S Tomankova, P Votypka, D Gardas, O Szarsoi, O Majchrak, T Adla, J Pirk, M MacekJr., J KautznerAbstract
Background
Aneurysm and dissection of great arteries may be a sign of inherited aortic diseases in individuals < 60 years of age. Our aim was to assess the yield of genetic and clinical family cascade screening in this condition.
Patients and methods
We studied 131 (31 post mortem, 100 survivors) cases (82 males, 49 females, average age 52,7 years), 118 suffering from type A-, 6 type B and 6 coronary artery dissections. All probands/relatives received clinical genetic consultation and molecular genetic analysis. Family cascade screening was carried out in 213 relatives (1.7 per case).
Results
ACMG.net class 4 and 5 variants in definitely associated genes were disclosed in 16 (12%) in genes FBN1 (5/131), TGFBR1 and COL3A1 (in 4/134 each), MYH11 (2/131) and in TGFBR2 (1/131). Family cascade screening identified 13 G+ individuals, while clinical screening showed up to 61 relatives of G- individuals with signs of aortic disease.
Conclusion
The genetic yield in dissections is low. While the cardiological family cascade screening identifies a high number of relatives at risk. This may lead to primary prevention of acute dissection by control of blood pressure, lifestyle changes or preventive surgical treatment.