11/14/24, 10\:55 AM Marfan Syndrome

Marfan Syndrome

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Marfan syndrome\: genetic condition a
tissue in the musculoskeletal, cardiovascular, and ocular systems.
Autosomal dominant syndrome, a
Defects in the FBN1 gene cause abnormal body stretching and longer bone growth.
Aetiology\: 25% of cases due to de novo mutations; FBN1 gene defects a
integrity.
Risk factors\: having a parent with Marfan syndrome results in a 50% risk of inheritance.
Symptoms\: visual disturbance, stretch marks, back pain, palpitations, shortness of breath, hypermobile joints.
Clinical features\: long face, narrow skull, deep-set eyes, small jaw,
arched palate, tall stature, long neck, long limbs, wide arm span, long
deformities (scoliosis, spondylolisthesis), hypermobile joints, chest deformities (pectus carinatum/excavatum), cardiac
murmurs (mitral regurgitation or aortic regurgitation).
Di
and Dissection syndrome.
Investigations\: plasma homocysteine, chest X-ray, echocardiogram, abdominal ultrasound, CT scan, genetic blood
screening, skin biopsy.
Diagnosis\: based on the Ghent criteria.
Management\:
Screening\: annual echocardiograms, CT thorax, MRI for scoliosis, dural ectasia, chest deformities, regular eye examinations.
Medical management\: beta-blockers, angiotensin receptor blockers, verapamil, physiotherapy, exercise, NSAIDs, spinal
braces, avoiding certain physical activities.
Surgical management\: elective cardiac surgery for aorta dilation >5cm, ophthalmology input for lens subluxation,
cataracts, retinal detachment, orthopaedic input for scoliosis, chest drains for pneumothoraces.
Genetic counselling\: referral for genetic counselling, prenatal testing (CVS or amniocentesis), preimplantation genetic
diagnosis (PGD).
Complications\: lens dislocation, myopia, aortic root aneurysms, mitral regurgitation, aortic regurgitation, mitral valve
prolapse, aortic dissection and rupture, joint subluxation, pneumothorax, dural ectasia, glaucoma, retinal tear/detachment,
inguinal hernias, gastro-oesophageal re
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A comprehensive topic overview

Introduction

Marfan syndrome is a genetic condition that a1
Defects in this gene lead to reduced production of

This causes parts of the body to be able to stretch abnormally when placed under stress. The defective
causes some bones to grow longer than they should.
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It is an autosomal dominant syndrome and is one of the most common inherited disorders of connective tissue disorders,
with 1 case in every 3000-5000 people.

Aetiology

Marfan syndrome is an autosomal dominant condition. However, 25% of patients develop the disease due to de novo
mutations, where the
This mutation results in defects in the FBN1 gene, which codes for
forms micro
maintain connective tissue integrity, and the abnormal structure found in these patients is responsible for the symptoms of
Marfan syndrome.

Risk factors

As Marfan syndrome is autosomal dominant, having a parent with the condition results in a 50% risk of the child inheriting
Marfan syndrome.

Clinical features

History
Marfan syndrome is typically identi
childhood, parents will often note their child is taller than their peers, alongside elongation of limbs,
features.
Typical symptoms of Marfan syndrome include\:
Visual disturbance\: due to lens dislocation
Stretch marks (striae) following growth spurts
Back pain\: due to scoliosis or spondylolisthesis
Palpitations
Shortness of breath on exertion
Hypermobile joints
Other important areas to cover in the history include\:
Parental history of Marfan syndrome\: 50% risk of children being a
Family history of aortic root dilation/aortic dissection
Clinical examination
Typical clinical features of Marfan syndrome include\:
Facial features\: long face, narrow skull, deep-set eyes, small jaw,
Lens dislocation (ectopia lentis)
High-arched palate and crowded teeth\: this may be noticed in routine dental examinations
Tall stature
Long neck
Long limbs and wide arm span
Long
Skin striae
Spine deformities\: scoliosis, spondylolisthesis
Hip and foot deformities
Hypermobile joints
Chest deformities\: pectus carinatum/excavatum
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Cardiac murmurs\: mitral regurgitation producing a pan-systolic murmur or aortic regurgitation producing an early
diastolic murmur

Di

Some di
Homocystinuria\: an inherited metabolic condition characterised by tall stature, intellectual disability, and downward lens
dislocation; however, cardiac complications are uncommon with this condition.
Ehlers-Danlos syndrome (EDS)\: a group of hereditary connective tissue disorders manifesting with hyperelasticity and
hypermobility. Patients with Marfan syndrome have a normal texture and skin elasticity compared to patients with EDS.
Klinefelter syndrome\: a genetic condition where a male is born with an extra X chromosome. These patients can also
present with tall stature and reduced musculature. Patients with Klinefelter syndrome can present with fertility issues,
whereas fertility is una
Familial Thoracic Aortic Aneurysm and Dissection syndrome (FTAAD)\: an inherited autosomal dominant condition
resulting in enlargement of the aorta. Unlike Marfan syndrome, it primarily a
features.

Investigations

In patients with suspected Marfan syndrome, investigations are used to rule out di
mutations. In patients with known Marfan syndrome, imaging is often used to assess for complications of the disease.
Laboratory investigations
Plasma homocysteine\: may be used to rule out homocystinuria if the diagnosis is uncertain
Imaging
Chest X-Ray\: to assess for the presence of pneumothorax
Echocardiogram\: to assess for cardiac complications such as valve disease or ascending aortic dissection
Abdominal ultrasound\: can be useful to visualise the abdominal aorta to assess for aortic dissection or aneurysm
CT scan\: to visualise the aorta in more detail
Other investigations
Genetic blood screening\: to look for a defect in the FBN-1 gene
Skin biopsy\: may be used to rule out EDS if the diagnosis is uncertain

Diagnosis

The diagnostic criteria for diagnosing Marfan syndrome is called the Ghent criteria.
2

Management

There is no cure for Marfan syndrome. Multidisciplinary team (MDT) management mainly includes preventing and treating
complications.
Screening
Patients with Marfan syndrome should undergo screening to monitor for complications of the disorder\:
Annual echocardiograms\: to screen for dilated aortic roots
CT thorax\: to monitor the thoracic aorta
MRI\: to monitor for scoliosis, dural ectasia and chest deformities
Regular eye examination via slit lamp\: to screen for myopia or astigmatisms
Medical management
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Patients may be prescribed medication such as beta-blockers, angiotensin receptor blockers or verapamil, which can
delay the progression of dilation of the aorta.
Physiotherapy, exercise, and NSAIDs can help with joint pain and hypermobility. Spinal braces may be advised for
managing scoliosis.
Some people may not be able to participate in contact sports like rugby. Other activities like heavy weight lifting,
gymnastics, scuba diving, climbing, and long-distance running should be undertaken with advice from specialists
depending on heart and musculoskeletal complications.
Surgical management of complications
Elective cardiac surgery is recommended if the aorta dilates more than 5cm. Procedures can be carried out to replace the
aortic root while preserving the aortic lea
Regular ophthalmology input should be sought, and surgical intervention for complications such as lens subluxation,
cataracts, and retinal detachment may be needed. If patients develop glaucoma, it should be carefully monitored to
prevent progression, as it can lead to vision loss.
Orthopaedic input is needed to manage scoliosis, and spinal surgery may be indicated in adolescents depending on the
degree of scoliosis or nerve entrapment.
Chest drains may be required to treat spontaneous primary pneumothoraces, which these patients are at increased risk
of.
Genetic counselling
Patients with Marfan syndrome who are considering children should be referred for genetic counselling and o
prenatal testing such as chorionic villus sampling (CVS) or amniocentesis.
Preimplantation genetic diagnosis (PGD) is a technique where eggs and sperm are harvested from the parents so
embryos can be created in a laboratory and una
an option after a person with Marfan syndrome has been identi
a parent.

Complications

Upwards lens dislocation\: present in up to 60% of patients. Visual issues as a result of dislocated lenses are often
resolved with glasses, however, surgery may be required later.
Myopia
Aortic root aneurysms
Mitral regurgitation
Aortic regurgitation
Mitral valve prolapse
Aortic dissection and rupture
Joint subluxation
Pneumothorax
Dural ectasia
Glaucoma
Retinal tear/detachment
Inguinal hernias
Gastro-oesophageal re
Increased cardiac risk during pregnancy
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References

Sakai, L.Y. e t a l . (2016) ‘FBN1\: The disease-causing gene for Marfan syndrome and other genetic disorders’
, G e n e , 591(1), pp.
279–291. doi\:10.1016/j.gene.2016.07.033.
BMJ Best Practice. Marfan syndrome.Published 2022. Available from [LINK]
Groth, K.A. e t a l . (2015) ‘Prevalence, incidence, and age at diagnosis in Marfan syndrome’
, O r p h a n e t J o u r n a l o f R a r e D i s e a s e s ,
10(1). doi\:10.1186/s13023-0150369-8.
Patient.info. Marfan's syndrome. Published 2022. Available from [LINK]
National Organization for Rare Disorders. Marfan syndrome - symptoms, causes, treatment. Published 2021. Available from
[LINK]

Reviewer

Dr Geeta Suryanarayan
Community Paediatric Consultant
Airedale Hospital

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Contents

Introduction
Aetiology
Risk factors
Clinical features
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