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Present and future of aortic risk assessment in patients with heritable thoracic aortic diseases
Gisela Teixido-Tura1, Lydia Dux-Santoy2, Clara Badia3
1Departamento de Cardiología, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Insights
Heritable thoracic aortic diseases (HTAD) pose complex risks. This review explores clinical, genetic, and imaging factors to improve risk assessment and personalize management for better patient outcomes.
Area of Science:
- Cardiovascular Genetics
- Medical Imaging
- Translational Medicine
Background:
- Heritable thoracic aortic diseases (HTAD) are genetic conditions with high risks of aortic complications.
- Current surveillance relies on aortic diameter thresholds for preventive surgery, but risk assessment is complex and incompletely understood.
- The diversity of HTAD conditions and limited knowledge of disease progression factors contribute to assessment challenges.
Purpose of the Study:
- To review current knowledge on clinical, genetic, and imaging factors influencing aortic risk in HTAD.
- To explore the potential of these factors in enhancing risk stratification.
- To guide the development of personalized management strategies for HTAD patients.
Main Methods:
- Literature review of clinical, genetic, and imaging data related to HTAD.
- Analysis of factors influencing aortic dilation progression and acute aortic events.
- Exploration of future applications in risk assessment and patient management.
Main Results:
- Identified key clinical, genetic, and imaging factors contributing to aortic risk in HTAD.
- Highlighted the complexity and limitations of current risk assessment methods.
- Emphasized the need for a more nuanced understanding of disease progression.
Conclusions:
- Advancing the understanding of identified factors can improve precision in HTAD risk stratification.
- Personalized management strategies are crucial for improving clinical outcomes and quality of life in HTAD patients.
- Further research into these factors is essential for optimizing patient care.
Abstract:
Heritable thoracic aortic diseases (HTAD) are a group of diverse genetic conditions characterized by an increased risk of aortic complications. The standard surveillance of these patients involves monitoring aortic diameters until a defined threshold is reached, at which point preventive aortic surgery is recommended. However, assessing aortic risk in these patients is far more complex and, in many aspects, remains incompletely understood. Several factors contribute to this complexity, including the diversity and low prevalence of the conditions within HTAD and the limited understanding of the factors influencing the progression of aortic dilation and the advent of acute aortic events. This article reviews current knowledge on clinical, genetic, and imaging factors related to aortic risk in HTAD and explores their potential future roles in improving risk assessment. By advancing our understanding of these factors, we aim to enhance the precision of risk stratification and develop more effective, personalized management strategies for HTAD patients, with the final goal of improving clinical outcomes and quality of life in individuals affected by these genetic disorders.
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