Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease

Aorta : Official Journal of the Aortic Institute at Yale-New Haven Hospital
Matias HannukselaBo Carlberg

Abstract

About 20% of patients with thoracic aortic aneurysm or dissection (TAAD) have a first-degree relative with a similar disease. The familial form (FTAAD) of the disease is inherited in an autosomal-dominant pattern. Current guidelines for thoracic aortic disease recommend screening of first-degree relatives of TAAD patients. In known familial disease, screening of both first- and second-degree relatives is recommended. However, the outcomes of such a screening program are unknown. We screened all first- and second-degree relatives in seven families with known FTAAD with echocardiography. No underlying gene defect had been detected in these families. Of 119 persons investigated, 13 had known thoracic aortic disease. In the remaining 106 cases, we diagnosed 19 additional individuals with a dilated ascending thoracic aorta; for an autosomal-dominant disease, the expected number of individuals in this group would have been 40 (p<0.0001). Further, only one of the 20 first-degree relatives younger than 40 years had a dilated aorta, although the expected number of individuals with a disease-causing mutation would have been 10. In most families with TAAD, a diagnosis still relies on measuring the diameter of the thoracic aorta. We show t...Continue Reading

Citations

Jan 5, 2019·Scandinavian Cardiovascular Journal : SCJ·Matias HannukselaBo Carlberg
May 28, 2019·American Journal of Medical Genetics. Part a·Lidia R BonsJolien W Roos-Hesselink
May 12, 2020·Circulation·Alexander J FletcherNiki L Walker
Jan 31, 2019·European Journal of Preventive Cardiology·Ryan Vela, Pietro Bajona

❮ Previous
Next ❯

Related Concepts

Related Feeds

Aortic Aneurysm

An aortic aneurysm is the weakening and bulging of the blood vessel wall in the aorta. This causes dilatation of the aorta, which is usually asymptomatic but carries the risk of rupture and hemorrhage. Find the latest research on aortic aneurysms here.

Cardiac Aneurysm

Aneurysm refers to a bulge of the wall or lining of a vessel commonly occurring in the blood vessels at the base of the septum or within the aorta. In the heart, it usually arises from a patch of weakened tissue in a ventricular wall, which swells into a bubble filled with blood. Discover the latest research on cardiac aneurysm here.