We recently held a webinar for nurses and advanced practitioners that focused on syndromic causes of aortopathy and aortic dissection. This was part of our ongoing effort to share knowledge and learning among clinicians caring for people with inherited aortic disease. The session gave a clear overview of two key syndromic conditions linked to thoracic aortic aneurysm and dissection, Marfan syndrome and Loeys-Dietz syndrome, and it also highlighted the realities of care that go far beyond the aorta alone.
The webinar’s focus was to support broader thinking, spot patterns sooner and understand what good long-term care looks like for people with these conditions. For nurses, specialist practitioners and anyone interested in inherited cardiac conditions, this is an area where careful clinical work can make a real difference. Early recognition allows for better monitoring, family screening, treatment and planned care before emergencies happen.
What is Aortopathy?
Aortopathy describes disease of the aorta, often involving enlargement, weakness or a tendency towards aneurysm and dissection. Some patients develop aortic disease because of age, blood pressure, smoking or other acquired cardiovascular risk factors. Others develop it because of an underlying inherited condition that affects the structure and function of connective or vascular tissue from birth.
Inherited or syndromic causes are important because the aorta can act differently in these cases. People may develop problems at a younger age, and the disease can affect more parts of the body. The risk associated with aortic size also differs from that in the general population. Other organs like the eyes, skeleton, skin, lungs, gut, or nervous system can be involved. So, clinical care needs to go beyond just the echocardiogram.
The webinar made this point well. Many patients with syndromic aortopathy are not easy to identify. Some spend years in general clinics with a dilated aortic root, but no one looks deeper. Others have obvious features outside the heart that go unnoticed. Some have family histories that were not fully explored. Others were diagnosed years ago but never had genetic testing again. Missing these chances can delay treatment and put both patients and their families at risk.
Marfan Syndrome
Marfan syndrome remains the best known connective tissue disorder associated with aortic disease. It is caused by pathogenic variants in FBN1, the gene that encodes fibrillin-1, a key component of connective tissue. It is inherited in an autosomal dominant pattern, although a substantial number of people are the first affected person in their family because of a new genetic change.
It is a multisystem condition. The cardiovascular features attract the most attention because they can be life-threatening, especially aortic root dilatation, aneurysm formation and dissection. Mitral valve prolapse and aortic valve problems can also occur. Outside the heart, clinicians may see scoliosis, pectus deformity, long limbs, lens dislocation, hypermobility, stretch marks, foot problems, chronic pain and fatigue.
One of the most useful reminders from the webinar was that not everyone with Marfan syndrome looks as expected. Some patients are not very tall or do not have a noticeable body shape. Some do not fit the typical image at all. This is important because relying too much on appearance can still lead to missed or delayed diagnoses.
Diagnosis can be made clinically as well as genetically. In practice, genetic testing is now common and very useful, especially for family screening, but it is important for clinicians to remember that a diagnosis of Marfan syndrome does not depend on genetics alone. Aortic root dilatation, ectopia lentis, family history and systemic features all contribute to diagnostic assessment.
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is rarer than Marfan syndrome, but it is crucial to recognise. It shares some overlapping features with Marfan syndrome, including aortic aneurysm and dissection, scoliosis, pectus deformity and mitral valve prolapse. Because of that overlap, some people have historically been labelled as Marfan syndrome and only later reclassified after genetic testing or specialist review.
The distinction matters because Loeys-Dietz syndrome can carry a more aggressive vascular risk profile. Patients may dissect at smaller aortic diameters than clinicians would expect in other settings. They may also develop aneurysms in other arteries, not just the aortic root. This changes surveillance and affects surgical decision-making.
The webinar highlighted several clinical clues that can point towards Loeys-Dietz syndrome. These included arterial tortuosity, bifid uvula, wider-set eyes, cervical spine instability, cleft palate, club foot, congenital heart disease, allergies, gastrointestinal problems and a risk of hollow organ rupture, such as bowel, uterine or splenic rupture. These are not small details. They help shape the whole care plan.
Loeys-Dietz syndrome reminds us that inherited aortic disease is not just about measuring the aortic root or scheduling the next scan. Clinicians need to step back and consider the whole range of features.
The Cost of Late Diagnosis
A key issue is the cost of not joining the dots early enough. Inherited aortic conditions are often first identified through incidental findings such as a dilated aortic root, particularly in younger patients without clear cardiovascular risk factors. These situations should prompt a broader clinical assessment. This includes considering syndromic causes, taking a careful family history, and arranging appropriate imaging or genetic referral where needed.
When these steps are missed, patients may spend years in follow-up without the underlying condition being recognised. This can delay appropriate treatment, family screening and specialist care. It can also leave patients without the information they need to understand their condition and manage their health with confidence. Recognising possible inherited aortopathy early allows care to be planned, monitored and coordinated properly, rather than reacting only when the disease has progressed.
For nurses and advanced practitioners, this is where clinical curiosity matters. Incidental aortic dilatation in a younger person without obvious risk factors should trigger further thought. Family history matters. Eye history matters. Skeletal features matter. The ability to say, “Could there be a connective tissue disorder here?” is an important clinical skill.
Surveillance and Intervention
Current practice is shaped by recently updated guidance, including the 2024 ESC guidelines and 2022 AHA guidance. Patients with known syndromic aortopathy need regular imaging, appropriate thresholds for more intensive follow-up, and timely consideration of surgery.
For Marfan syndrome, yearly echocardiography is common, with more frequent monitoring once the aorta reaches a size where the risk is rising. For Loeys-Dietz syndrome, surveillance is often closer and surgery may be considered at smaller diameters, depending on the specific genetic background and clinical picture. The key point is that diameter alone does not tell the whole story. Diagnosis, growth rate, family history and overall phenotype all matter.
These guidelines also support specialist aortic teams. That model matters because patients with inherited aortic disease are not well served by isolated decisions made without broader context.
Exercise Recommendations
The 2025 European Journal of Preventive Cardiology on exercise recommendations for patients with Marfan syndrome is an important paper because exercise remains one of the most confusing topics for patients and clinicians alike.
For years, many people with Marfan syndrome were told more about what they must not do than what they safely could do. That caution came from a real concern. Exercise can increase heart rate, blood pressure and aortic wall stress. Heavy resistance work, in particular, can cause large spikes in blood pressure. In someone with a weakened or dilated aorta, that has obvious implications.
However, telling everyone to avoid exercise has its own problems. It can lead to inactivity, loss of fitness, weight gain, worse mental health and lower confidence. The review looks at this issue directly, not ignoring the risks, but suggests that advice should be more balanced, practical and tailored to each person.
What the Evidence Tells Us
Animal studies suggested that mild to moderate dynamic exercise may reduce the rate of aortic dilatation and improve aortic wall structure in Marfan models. The greatest benefits appeared at moderate intensity rather than high intensity. That does not prove the same effect in humans, but it does provide a biological basis for a more balanced approach.
Human studies were limited, but they were generally reassuring in lower-risk groups. Supervised and structured exercise programmes were associated with improvements in fitness, muscle performance, quality of life and mental wellbeing, without evidence of short-term harm to aortic root size. One trial of online personalised training found that patients improved their quality of life and cardiovascular fitness over three months, while aortic root dimensions remained stable. A paediatric study based on a target of 10,000 steps a day also suggested possible benefit in vascular health and aortic growth trends.
The review is careful not to overstate these findings. Most participants were low-risk, many were already on beta blockers or angiotensin receptor blockers, and follow-up was relatively short. The paper does not say that all exercise is safe for all patients. It says that appropriately prescribed exercise is likely to be beneficial and may be safely achievable in selected patients.
The Right Type of Exercise
A particularly helpful part of the paper is its breakdown of different exercise types.
In general, low-to-moderate dynamic aerobic activity is seen as the safest foundation. Walking, light cycling, gentle swimming, tai chi, light yoga, light Pilates and similar activities are typically the sort of exercise that can be recommended, provided the patient’s aortic status and overall risk have been assessed.
Some activities may be possible with caution in selected patients. This depends on intensity, supervision, prior fitness and the wider phenotype.
Activities that are usually discouraged include heavy weightlifting, powerlifting, sprinting, high-intensity interval training, contact sports, and activities with high trauma risk or major static load. Scuba diving is also a concern because of pulmonary complications and barotrauma risk. The concern is not simply effort but also a sharp blood pressure rise, strain, trauma risk and the underlying fragility of connective tissue.
This matters because patients often hear the word “exercise” as if it were a single category. It is not. There is a major difference between a brisk walk, a supervised light resistance session, a maximal deadlift and a full-contact competitive sport.
Looking for more specific advice?
For detailed, clinically approved guidance for people living with aortic dissection or aortic disease, explore our dedicated patient resources. These provide practical recommendations on safe physical activity, rehabilitation and returning to exercise after diagnosis.
Frequency, Intensity, Time, Type
The paper supports an individualised exercise prescription based on risk profile, aortic size, baseline fitness and multisystem involvement. It uses the familiar FITT principles: frequency, intensity, time and type.
A reasonable broad aim for many lower-risk patients is 150 to 300 minutes of aerobic exercise per week, spread over several days, at low to moderate intensity. The paper suggests that current guidance often places safe exercise intensity at about 50 to 70 per cent of maximum heart rate, but it also notes the limits of heart-rate-based advice in Marfan syndrome.
This is an important point. Many patients are on beta blockers, which blunt heart rate response. Some may also have autonomic dysfunction. That means heart rate alone can be misleading. The paper therefore argues for a combined approach using objective and subjective tools, such as cardiopulmonary exercise testing where available, blood pressure assessment, ventilatory thresholds, and perceived exertion scales like the Borg scale.
This is one reason why specialist advice is important. Good exercise guidance for Marfan syndrome is not just about telling people to take it easy. It should be carefully tailored to each person.
Rethinking Exercise Advice
The clinical conversation is moving from restriction alone towards safe participation, recognising that patients with Marfan syndrome are now living longer because of improved surveillance and surgery. With that increased life expectancy comes the need to support long-term health in a more complete way.
Being inactive has its own risks, as do fear and avoidance. If clinicians only tell patients what to avoid, patients may lose confidence to do anything. The paper encourages a more positive approach. Patients need guidance on which activities are helpful, what warning signs to watch for, and how advice should change if their aorta grows or their condition changes.
This is especially important for children, teens and young adults. Advice given at these ages can shape lifelong habits and quality of life.
The Need for More Research
Inherited aortic disease is still an area where clinical practice is evolving. Awareness has improved over the past decade, but there are still delays in diagnosis, uneven care pathways, and many important questions remain, especially about exercise and quality of life.
This is why communities of practice are so important. They give nurses and advanced practitioners a place to learn together, discuss challenging cases, understand new research, and build confidence in their speciality. They also help make rare disease care more connected to the real experiences of patients and families.
If you are a nurse, allied health professional, advanced practitioner, or someone considering a career in aortic, inherited cardiac or rare disease care, then our community of practice continues to grow, and new voices are always welcome.
