April 2022

By Maura Boerio, BS
Clinical Research Assistant in the lab of Dr. Dianna Milewicz

A summary of “Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment,” published by the laboratory of Dr. Dianna Milewicz in the Journal of the American Heart Association.

If an individual with thoracic aortic disease carries a change, or variant, in one of the 11 genes, their family members can get genetic testing to determine if they also carry that same variant. Only the individuals who carry the genetic variant will need to be checked for aneurysms. In a large majority of cases, people with thoracic aortic disease do not have a variant in any of these 11 genes. It is possible that they have a variant in a gene that has not yet been researched to cause thoracic aortic disease. In these “unsolved” cases, the only way to determine if other family members are at risk for thoracic aortic disease is by screening them for thoracic aortic aneurysms. The question remains, which family members need to be screened? How do we know if screening family members is helpful?

 

Dr. Riccardo Giuseppe Abbasciano and his colleagues in the United Kingdom recently studied the value of screening family members. They recruited eight thoracic aortic disease patients, who

hadfamily history of thoracic aortic disease, and screened 28 of their relatives.  Six of these relatives were found to have thoracic aneurysms that were not previously known about. The researchers also recruited eight other thoracic aortic disease patients, who did not have other family members diagnosed with thoracic aortic disease, and screened 26 of their relatives. Seven of the relatives in this group were found to have thoracic aortic aneurysms that were not previously known about. This study emphasizes that screening relatives of individuals with thoracic aortic disease, whether or not the individuals have a family history of the disease, is useful and can lead to additional diagnoses in families. However, the small number of participants in this study calls for it to be repeated on a larger scale to draw a stronger conclusion. Although it is helpful to use genetic testing and family screening to figure out who has thoracic aortic disease or carries a risk for developing it, other environmental and lifestyle risk factors for the disease need to be identified so we can better determine who else is at risk in the general population.

Cecchi AC, Boerio ML, Marin I, Pinard A, Milewicz DM. Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment. J Am Heart Assoc. 2022;11(8):e025441. doi:10.1161/JAHA.122.025441

This article is a commentary on “Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study“