Screening Children for Familial Aortopathies: Tread With Caution

摘要

The knowledge surrounding the genetic etiologies of familial aortopathies and familial thoracic aortic aneurysms and dissections has greatly expanded over the past few years. However, despite these advances, the underlying molecular etiology remains unidentified in most families with nonsyndromic familial aortopathies, and in a subset of families with syndromic aortopathies. In these families we cannot offer a genetic test to establish which family members are at risk. Although the general consensus has been to clinically follow all at-risk family members on the basis of family history, it remains unclear at the age at which to initiate clinical surveillance and the frequency which to screen asymptomatic relatives, whether or not a genetic etiology has been established in the family. These questions are particularly troublesome in a pediatric context where the risks of screening are potentially higher and the likelihood that such screening will provide immediate benefits is often lower than in adults. In this report we aim to: (1) provide clinicians with a framework within which to evaluate risks and benefits of screening asymptomatic pediatric patients for a family history of thoracic aortic aneurysms and dissections; and (2) provide a potential approach for patients (a) in whose family a disease-causing mutation has been identified, (b) patients in whose family the proband is syndromic, but does not have an identified disease-causing mutation, and (c) patients in whose family the proband is nonsyndromic and does not have an identified disease-causing mutation.