Genetic testing alone cannot tell you if you have Marfan syndrome, as there are other connective tissue disorders. If the disease is suspected, the doctor will perform a thorough physical exam of the eyesheart and blood vessels, and muscle and skeletal system, obtain a history of symptoms and information about family members that may have had the disorder, to determine if you have it. Other tests, such as a chest X-rayan electrocardiogram ECGand an echocardiogram will be used to evaluate changes in the heart and blood vessels, and detect heart rhythm problems. If sections of the aorta are unable to be visualized through echocardiogramor a dissection is already suspected, a transesophageal echocardiogram TEEMRIor CT scan may be needed.
What every practitioner needs to know Are you sure your patient has Marfan syndrome? What are the typical findings for this disease?
The diagnosis of Marfan syndrome is made according to guidelines established by the Revised Ghent Nosology. The most important features of Marfan syndrome the cardinal features are aortic root dilation or dissection, dislocation of the ocular lenses, and a postive family history for Marfan syndrome.
In the presence of one of the cardinal features but the absence of the other two, the diagnosis of Marfan syndrome may be made if a systemic score of 7 or more is established.
Systemic score for Marfan syndrome Points are allocated for various systemic findings, which include the wrist and thumb signs 3 pointswrist or thumb sign 1 pointpectus carinatum 2 pointspectus excavatum or asymmetric chest wall 1 pointhindfoot deformity 2 pointspes planus 1 pointpneumothorax, dural ectasia, or protusio acetabulo 2 points eachreduced upper-lower segment ratio, and increased arm span-height ratio 1 pointand 1 point each for the following: Facial features Facial features include dolichocephaly, enophthalmos, down-slanting palpebral fissures, retrognathia, malar hypoplasia.
In patients younger than 20 years of age, the differential diagnosis includes a nonspecific connective tissue disorder and potential Marfan syndrome, if a FBN1 mutation has been established in a first-degree relative but the aortic root size remains less than a z score of 3.
In patients older than 20 years, the differential diagnosis includes ectopia lentis syndrome, mitral valve prolapse syndrome, and MASS phenotype mitral, aortic, skin and skeleton.
There are also a number of familial aneurysm syndromes that may be considered in the presence of aortic aneurysm if the diagnostic criteria for Marfan syndrome are not fulfilled. Features seen in LDS that are not typically seen in Marfan syndrome include ocular hypertelorism, bifid uvula, Chiari malformation, craniosynostosis, generalized arterial tortuosity, and aneurysms, with dissection throughout the arterial tree not limited to the aorta.
Shprintzen-Goldberg syndrome manifests with skeletal features similar to those seen in Marfan syndrome, but with additional features not seen in Marfan syndrome, including craniofacial features such as ocular hypertelorism and craniosynostosis, as well as cognitive impairment.
Other connective tissue disorders, including Ehlers-Danlos syndrome, Stickler syndrome, congenital contractural arachnodactyly, homocystinuria, and the fragile X syndrome demonstrate musculoskeletal features that overlap with those seen in Marfan syndrome. What caused this disease to develop at this time?
Marfan syndrome is a hereditary disorder of connective tissue caused by mutations in the fibrillin-1 FBN1 gene. What laboratory studies should you request to help confirm the diagnosis?
How should you interpret the results? The presence of aortic root dilation with a z score of more than 3 is one of the cardinal features of Marfan syndrome. The presence of ectopia lentis is one of the cardinal features of Marfan syndrome. The presence of a causal FBN mutation is a cardinal feature of Marfan syndrome.
Consultation with a medical geneticist familiar with the diagnosis of Marfan syndrome is encouraged to interpret results of FBN1 gene sequencing. Would imaging studies be helpful?A clinical diagnosis of Marfan syndrome relies on a combination of clinical features and family history or positive genetic test results.
Clinical sensitivity Approximately 70%% of individuals with Marfan syndrome have an identifiable FBN1 pathogenic sequence variant or deletion/duplication. Physician assistants and nurse practitioners use Clinical Advisor for updated medical guidance to diagnose and treat common medical conditions in daily practice.
Marfan syndrome is a. Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability.
Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and .
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable.
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides the strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and.