Key result
Genetic screening in aortic or coronary dissection identifies pathogenic variants in ~12% of index cases.
Why the study?
Aneurysm and dissection of great arteries in individuals under 60 years of age may indicate inherited aortic diseases, prompting an assessment of the yield of genetic and clinical family cascade screening.
What is the yield of genetic and clinical family cascade screening in patients with aortic or coronary dissections and their relatives?
Observational (n=131)
No
What is the yield of genetic and clinical family cascade screening in patients with aortic or coronary dissections and their relatives?
Although the molecular genetic yield in aortic and coronary dissections is low (12%), clinical cardiological family cascade screening identifies a high number of at-risk relatives (up to 61 in G- families), enabling primary prevention.
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.
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Krebsova et al. (2026) conducted an observational in Aortic or coronary artery dissections (n=131). Genetic and clinical family cascade screening was evaluated on Yield of ACMG class 4 and 5 genetic variants in index cases and identification of at-risk relatives. Genetic screening in aortic/coronary dissection identified pathogenic variants in 12% (16/131) of index cases, while cascade screening detected 13 G+ relatives and 61 G- relatives with aortic disease.
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