Marfan Syndrome.
What is Marfan syndrome?
Marfan syndrome is a rare genetic disorder that affects the connective tissues in the body, leading to a wide range of physical and medical features. Connective tissue provides support and structure to various organs and systems, including the heart, blood vessels, bones, and eyes.
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which codes for the protein fibrillin-1. Fibrillin-1 plays a critical role in forming the connective tissues that provide strength and elasticity to organs and structures throughout the body. When there is a mutation in the FBN1 gene, it can lead to the production of abnormal fibrillin-1 and disrupt the proper functioning of connective tissues.
Marfan syndrome affects approximately one in 5,000 people worldwide. It is an autosomal dominant condition — meaning a single copy of the mutated gene is sufficient to cause the condition — and approximately 75% of cases are inherited from a parent, with the remaining 25% arising from new (de novo) mutations. It sits within the broader spectrum of heritable connective tissue disorders alongside Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Stickler syndrome, and shares features with each — though its specific clinical profile,cardiovascular involvement and management approach are distinct.
What are the features of Marfan syndrome?
Marfan syndrome is a multi-system condition. Its features span the cardiovascular system, skeleton, eyes and skin.
Cardiovascular involvement is the most clinically critical aspect and distinguishes Marfan syndrome from hypermobility EDS in a physiotherapy context. Aortic root dilatation — progressive enlargement of the base of the aorta — is the most significant finding and carries a risk of aortic dissection or rupture that is life-threatening. Mitral valve prolapse is also common. All patients with Marfan syndrome require regular cardiac surveillance by a cardiologist experienced in connective tissue disorders, and the cardiovascular status directly determines what exercise is and is not safe.
Skeletal features include tall stature with disproportionately long limbs and fingers (arachnodactyly — "spider fingers"), pectus excavatum or carinatum (chest wall deformity), scoliosis, kyphosis, flat feet, and generalised joint hypermobility. The arm span typically exceeds height, and the upper-to-lower body segment ratio is reduced. Atlantoaxial instability and dural ectasia — enlargement of the dural sac surrounding the spinal cord — are recognised spinal features.
Ocular features include lens dislocation (ectopia lentis) — present in more than half of patients — myopia and increased risk of retinal detachment. Regular ophthalmological review is essential.
Skin findings include stretch marks, easy bruising and reduced wound healing, similar to EDS.
How is Marfan syndrome diagnosed?
Diagnosis is based on the revised Ghent nosology, which combines clinical criteria across organ systems with genetic testing for FBN1 mutations. The combination of aortic root dilatation, ectopia lentis and a family history of confirmed Marfan syndrome is highly diagnostic. Referral to a clinical geneticist is appropriate where Marfan syndrome is suspected. The Marfan Foundation is the leading international patient organisation and provides comprehensive resources.
Exercise precautions in Marfan syndrome
This section is critical and must be understood by any physiotherapist or exercise professional working with Marfan syndrome patients. The cardiovascular involvement creates exercise restrictions that are more significant than those for hypermobility EDS and must be individually determined in consultation with the patient's cardiologist based on current aortic root diameter and rate of dilatation.
Isometric exercises — heavy resistance training, straining, breath-holding under load — produce significant blood pressure elevation that stresses the aortic wall and are generally contraindicated. High-intensity cardiovascular exercise and contact sports carry elevated risk of aortic dissection and are typically restricted or prohibited. Competitive sport is generally not recommended. The specific exercise parameters for each individual must be cleared with their cardiology team — physiotherapy and exercise physiology for Marfan syndrome must work within these medically determined boundaries.
How can physiotherapy help?
Within the constraints of appropriate cardiovascular precautions, physiotherapy plays an important role in the musculoskeletal management of Marfan syndrome. The principles overlap significantly with those for EDS and Loeys-Dietz syndrome — building active muscular stability around hypermobile joints, proprioceptive training, pacing and load management — but with conservative load parameters consistent with the cardiovascular precautions.
Scoliosis and kyphosis management is a specific priority in Marfan syndrome — spinal curvatures are common, often progressive, and physiotherapy-based scoliosis-specific exercises (Schroth method and related approaches) are appropriate for curves that do not yet require surgical intervention. Clinical Pilates is well suited when adapted appropriately — avoiding high-load spring resistance, prolonged breath-holding and any exercises producing significant cardiovascular demand. Flat foot management through orthotics and intrinsic foot strengthening is relevant for the majority of Marfan patients.
Postural rehabilitation — addressing the thoracic kyphosis and forward head posture that commonly develop in the context of tall stature, long-limb proportions and pectus deformity — improves both function and comfort.
Our physiotherapist Yulia Khasyanova holds certifications through the Ehlers-Danlos Society and has specialist experience in heritable connective tissue disorders including Marfan syndrome. She works closely with patients' specialist medical teams to ensure rehabilitation is conducted safely within medically appropriate parameters. Telehealth is available for patients who cannot access specialist connective tissue disorder physiotherapy locally.
The Connective Tissue Disorders Network Australia and Hypermobility Connect Australia provide support and resources for patients with Marfan syndrome and related conditions.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
Marfan syndrome is a rare genetic disorder that affects the connective tissues in the body, leading to a wide range of physical and medical features. Connective tissue provides support and structure to various organs and systems, including the heart, blood vessels, bones, and eyes.
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which codes for the protein fibrillin-1. Fibrillin-1 plays a critical role in forming the connective tissues that provide strength and elasticity to organs and structures throughout the body. When there is a mutation in the FBN1 gene, it can lead to the production of abnormal fibrillin-1 and disrupt the proper functioning of connective tissues.
Marfan syndrome affects approximately one in 5,000 people worldwide. It is an autosomal dominant condition — meaning a single copy of the mutated gene is sufficient to cause the condition — and approximately 75% of cases are inherited from a parent, with the remaining 25% arising from new (de novo) mutations. It sits within the broader spectrum of heritable connective tissue disorders alongside Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Stickler syndrome, and shares features with each — though its specific clinical profile,cardiovascular involvement and management approach are distinct.
What are the features of Marfan syndrome?
Marfan syndrome is a multi-system condition. Its features span the cardiovascular system, skeleton, eyes and skin.
Cardiovascular involvement is the most clinically critical aspect and distinguishes Marfan syndrome from hypermobility EDS in a physiotherapy context. Aortic root dilatation — progressive enlargement of the base of the aorta — is the most significant finding and carries a risk of aortic dissection or rupture that is life-threatening. Mitral valve prolapse is also common. All patients with Marfan syndrome require regular cardiac surveillance by a cardiologist experienced in connective tissue disorders, and the cardiovascular status directly determines what exercise is and is not safe.
Skeletal features include tall stature with disproportionately long limbs and fingers (arachnodactyly — "spider fingers"), pectus excavatum or carinatum (chest wall deformity), scoliosis, kyphosis, flat feet, and generalised joint hypermobility. The arm span typically exceeds height, and the upper-to-lower body segment ratio is reduced. Atlantoaxial instability and dural ectasia — enlargement of the dural sac surrounding the spinal cord — are recognised spinal features.
Ocular features include lens dislocation (ectopia lentis) — present in more than half of patients — myopia and increased risk of retinal detachment. Regular ophthalmological review is essential.
Skin findings include stretch marks, easy bruising and reduced wound healing, similar to EDS.
How is Marfan syndrome diagnosed?
Diagnosis is based on the revised Ghent nosology, which combines clinical criteria across organ systems with genetic testing for FBN1 mutations. The combination of aortic root dilatation, ectopia lentis and a family history of confirmed Marfan syndrome is highly diagnostic. Referral to a clinical geneticist is appropriate where Marfan syndrome is suspected. The Marfan Foundation is the leading international patient organisation and provides comprehensive resources.
Exercise precautions in Marfan syndrome
This section is critical and must be understood by any physiotherapist or exercise professional working with Marfan syndrome patients. The cardiovascular involvement creates exercise restrictions that are more significant than those for hypermobility EDS and must be individually determined in consultation with the patient's cardiologist based on current aortic root diameter and rate of dilatation.
Isometric exercises — heavy resistance training, straining, breath-holding under load — produce significant blood pressure elevation that stresses the aortic wall and are generally contraindicated. High-intensity cardiovascular exercise and contact sports carry elevated risk of aortic dissection and are typically restricted or prohibited. Competitive sport is generally not recommended. The specific exercise parameters for each individual must be cleared with their cardiology team — physiotherapy and exercise physiology for Marfan syndrome must work within these medically determined boundaries.
How can physiotherapy help?
Within the constraints of appropriate cardiovascular precautions, physiotherapy plays an important role in the musculoskeletal management of Marfan syndrome. The principles overlap significantly with those for EDS and Loeys-Dietz syndrome — building active muscular stability around hypermobile joints, proprioceptive training, pacing and load management — but with conservative load parameters consistent with the cardiovascular precautions.
Scoliosis and kyphosis management is a specific priority in Marfan syndrome — spinal curvatures are common, often progressive, and physiotherapy-based scoliosis-specific exercises (Schroth method and related approaches) are appropriate for curves that do not yet require surgical intervention. Clinical Pilates is well suited when adapted appropriately — avoiding high-load spring resistance, prolonged breath-holding and any exercises producing significant cardiovascular demand. Flat foot management through orthotics and intrinsic foot strengthening is relevant for the majority of Marfan patients.
Postural rehabilitation — addressing the thoracic kyphosis and forward head posture that commonly develop in the context of tall stature, long-limb proportions and pectus deformity — improves both function and comfort.
Our physiotherapist Yulia Khasyanova holds certifications through the Ehlers-Danlos Society and has specialist experience in heritable connective tissue disorders including Marfan syndrome. She works closely with patients' specialist medical teams to ensure rehabilitation is conducted safely within medically appropriate parameters. Telehealth is available for patients who cannot access specialist connective tissue disorder physiotherapy locally.
The Connective Tissue Disorders Network Australia and Hypermobility Connect Australia provide support and resources for patients with Marfan syndrome and related conditions.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
