Diagnosis and management of heritable thoracic aortic diseases.

Abstract

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.