Screening Children for Familial Aortopathies: Tread With Caution

Area of Science:

• Cardiovascular Genetics
• Pediatric Cardiology
• Medical Genetics

Background:

• Significant progress in understanding genetic causes of familial aortopathies and thoracic aortic aneurysms and dissections (TAAD).
• Molecular etiology remains unknown in many nonsyndromic and some syndromic familial aortopathy cases, precluding genetic testing for at-risk individuals.
• Clinical surveillance guidelines for asymptomatic relatives are unclear, especially regarding initiation age and screening frequency, particularly in pediatric populations.

Purpose of the Study:

• To provide a framework for clinicians to assess the risks and benefits of screening asymptomatic pediatric patients with a family history of TAAD.
• To propose an approach for managing patients based on the genetic status within their families.

Main Methods:

• Literature review and synthesis of current knowledge on familial aortopathies and TAAD.
• Development of a risk-benefit assessment framework for pediatric screening.
• Categorization of patient management strategies based on identified mutations, syndromic status, and proband's genetic findings.

Main Results:

• The report outlines criteria for evaluating screening risks and benefits in pediatric patients with a family history of TAAD.
• It proposes distinct management pathways for families with identified disease-causing mutations, syndromic cases without identified mutations, and nonsyndromic cases without identified mutations.

Conclusions:

• Establishing clear guidelines for pediatric screening in familial TAAD is crucial due to the potential risks and limited immediate benefits.
• A structured approach is needed to guide clinical surveillance and genetic testing strategies in families affected by aortopathies, even when the specific genetic etiology is unknown.