Lifelong, multidisciplinary, gene-informed management integrating imaging, genetics, and lifestyle considerations is required to optimize outcomes in heritable thoracic aortic diseases.
Heritable thoracic aortic diseases require lifelong, multidisciplinary, gene-informed management integrating imaging, genetics, and lifestyle considerations to optimize outcomes.
Heritable thoracic disease (HTAD) represents a heterogeneous group of genetic conditions predisposing to thoracic aortic aneurysm and dissection, with important implications for patients and families. Accurate diagnosis requires integration of clinical assessment—including subtle syndromic features—and molecular genetic testing, supported by family screening. While aortic root pathology is a hallmark, extra-aortic manifestations such as myocardial dysfunction, arrhythmias, premature atherosclerosis and aneurysms in distal or branch vessels are increasingly recognised, with gene-specific associations informing risk stratification. Imaging plays a central role in diagnosis and longitudinal monitoring. Transthoracic echocardiography remains the first-line tool, but cross-sectional imaging (cardiovascular magnetic resonance or cardiovascular CT) is essential for complete aortic assessment and detection of extra-aortic involvement. Surveillance intervals and imaging techniques must be standardised and tailored to genotype and clinical features. Medical therapy aims to control blood pressure and reduce aortic growth. Beta-blockers and angiotensin receptor blockers are first-line in Marfan syndrome; evidence for other HTAD subtypes is emerging. Surgical thresholds differ by genotype, emphasising the importance of personalised care. Paediatric management follows similar principles but requires adapted imaging techniques, growth-adjusted interpretation and careful timing of intervention. Pregnancy in women with HTAD demands multidisciplinary planning, individualised risk assessment and close follow-up to minimise maternal and fetal complications. Finally, recent data support moderate aerobic activity while avoiding isometric and contact sports; exercise prescriptions should be individualised. Overall, HTAD care requires lifelong, multidisciplinary, gene-informed management, integrating imaging, genetics and lifestyle considerations to optimise outcomes across the lifespan.
Backer et al. (Wed,) conducted a review in Heritable thoracic aortic diseases (HTAD). Lifelong, multidisciplinary, gene-informed management integrating imaging, genetics, and lifestyle considerations is required to optimize outcomes in heritable thoracic aortic diseases.