From the Guidelines
Individuals with a family history of Marfan syndrome, those displaying characteristic physical features such as tall stature, long limbs, curved spine, chest deformities, or unusually flexible joints, and those experiencing symptoms like heart murmurs, shortness of breath, chest pain, lens dislocation, or severe nearsightedness should undergo testing for Marfan syndrome. The diagnostic process typically involves a physical examination, family history review, genetic testing for mutations in the FBN1 gene, and imaging studies like echocardiograms to assess heart and blood vessel conditions 1.
Key Indications for Testing
- Family history of Marfan syndrome
- Characteristic physical features:
- Tall stature
- Long limbs
- Curved spine
- Chest deformities
- Unusually flexible joints
- Symptoms:
- Heart murmurs
- Shortness of breath
- Chest pain
- Lens dislocation
- Severe nearsightedness
Early diagnosis is crucial because it allows for appropriate monitoring and treatment to prevent life-threatening complications, particularly aortic dissection, which is the most serious risk associated with the condition 1. The modified Ghent criteria for diagnosis incorporate genetic testing, the systemic score, ectopia lentis, and the family history, providing a comprehensive approach to identifying individuals with Marfan syndrome 1.
Importance of Early Diagnosis
- Prevents life-threatening complications
- Allows for appropriate monitoring and treatment
- Reduces risk of aortic dissection and other serious cardiovascular complications
Given the potential for significant morbidity and mortality associated with Marfan syndrome, particularly due to aortic root dilation and type A aortic dissection, testing and early diagnosis are critical for individuals at risk 1. Regular imaging surveillance of the aorta, typically performed annually, is also essential for managing the condition and preventing complications 1.
From the Research
Individuals Who Should Get Tested for Marfan Syndrome
The following individuals should get tested for Marfan syndrome:
- Those with a family history of Marfan syndrome, as it is an autosomal dominant condition 2, 3
- Individuals with symptoms such as aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia lentis), and skeletal abnormalities 2, 4
- Those with a diagnosis of aortic root dilation or mitral valve prolapse, as these are common presentations of Marfan syndrome 3
- Individuals with a history of aortic dissection, as this is a major cause of morbidity and mortality in Marfan syndrome 5
- Those who are suspected of having Marfan syndrome based on clinical manifestations, as genetic testing can help confirm the diagnosis and distinguish it from other heritable thoracic aortic disease syndromes 2, 6
Importance of Genetic Testing
Genetic testing plays a crucial role in the diagnosis and management of Marfan syndrome:
- It can help identify pathogenic or likely pathogenic variants in the FBN1 gene, which is associated with Marfan syndrome 6
- Genetic testing can distinguish Marfan syndrome from other conditions that present with heritable thoracic aortic diseases, allowing for tailored management 6
- It can provide information on genotype-phenotype correlations, which can guide prophylactic aortic root surgery and follow-up care 6