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Familial Aortopathies - State of the Art Review
Dominica Zentner1, Paul James2, Paul Bannon3
1Department of Cardiology, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Vic, Australia; Royal Melbourne Hospital Clinical School, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia.
Insights
Heritable thoracic aortic aneurysm and dissection (h-TAAD) involves genetic factors affecting the aorta, increasing risks of dilation and dissection. Research emphasizes family history, genetic discovery, and improved surveillance for better patient outcomes.
Area of Science:
- Cardiovascular Genetics
- Vascular Biology
- Medical Genetics
Background:
- Aortopathies, including heritable thoracic aortic aneurysm and dissection (h-TAAD), are characterized by aortic dilatation, aneurysm formation, and dissection.
- These genetic conditions can affect not only the aorta but also other large elastic arteries and body systems.
- While numerous gene mutations are linked to h-TAAD, some families lack identified pathogenic variants, suggesting environmental influences and undiscovered genes.
Purpose of the Study:
- To review the current understanding of heritable thoracic aortic aneurysm and dissection (h-TAAD).
- To highlight the importance of genetic factors, family history, and ongoing research in managing these conditions.
- To emphasize the need for improved surveillance, medical therapies, and understanding of quality of life impacts.
Main Methods:
- Literature review and synthesis of current research on h-TAAD.
- Analysis of genetic associations and their implications for diagnosis and management.
- Discussion of current therapeutic strategies and future research directions.
Main Results:
- Survival rates for h-TAAD have improved due to surgical interventions.
- Early identification and regular surveillance are crucial for preventing dissection and improving outcomes.
- Further research is needed to understand gene variant effects, optimize medical therapies, and assess quality of life impacts.
Conclusions:
- h-TAAD is a complex genetic disorder requiring comprehensive management strategies.
- Continued research into genetic pathways and environmental factors is essential for developing novel therapies.
- Improving non-invasive risk identification and understanding the long-term effects on patients' lives are critical future goals.
Abstract:
Aortopathies are conditions that result in aortic dilatation, aneurysm formation and dissection. Familial aortopathies (perhaps better known as heritable thoracic aortic aneurysm and dissection, h-TAAD, as not all have a positive family history) are recognised to have an underlying genetic cause and affect the aorta, predisposing it to the above pathologies. These conditions can also affect the extra-aortic vasculature, particularly large elastic arteries and other body systems. Mutations in a number of genes have been associated with h-TAAD. However, not all affected families have a pathogenic gene variant identified-highlighting the importance of a three-generational family history and the likely role of both environmental factors and future gene discoveries in furthering knowledge. Survival has improved over the last few decades, essentially due to surgical intervention. The benefit of identifying affected individuals depends upon a regular surveillance program and timely referral for surgery before complications such as dissection. Further research is required to appreciate fully the effects of individual gene variants and improve evidence for prophylactic medical therapy, as well as to understand the effect of h-TAAD on quality of life and life choices, particularly around exercise and pregnancy, for affected individuals. This will be complemented by laboratory-based research that seeks to understand the tissue pathways that underlie development of arterial pathology, ideally providing targets for novel medical therapies and a means of non-invasively identifying individuals at increased vascular risk to reduce dissection, which remains a devastating life-threatening event.
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