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Diagnostic Tests

Marfan Syndrome

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Marfan Syndrome

Also known as Marfan Syndrome Genetic Testing Blood
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What is this test?

Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately 1 to 2 per 10,000 individuals. It is characterized by the presence of skeletal, ocular, and cardiovascular manifestations and is caused by variants in the FBN1 gene. Skeletal findings may include tall stature, chest wall deformity, scoliosis, and joint hypermobility. Lens dislocation (ectopia lentis) is the cardinal ocular feature, and mitral valve prolapse and aortic root dilatation/dissection are the main cardiovascular features. Diagnosis is based on the revised Ghent nosology and genetic testing of FBN1. Management aims to monitor and slow the rate of aortic root dilatation, and initiate appropriate medical and/or surgical intervention as needed. Other phenotypes associated with the FBN1 gene include autosomal dominant ectopia lentis (displacement of the lens of the eye), thoracic aortic aneurysm and dissections (TAAD), isolated skeletal features of MFS, MASS phenotype (mitral valve prolapse, aortic diameter increased, stretch marks, skeletal features of MFS), Shprintzen-Goldberg syndrome (Marfanoid-craniosynostosis; premature ossification and closure of sutures of the skull), and autosomal dominant Weill-Marchesani syndrome (short stature, short fingers, ectopia lentis). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disease with significant overlap with Marfan syndrome, but may include involvement of other organ systems and is primarily caused by variants in TGFBR1 and TGFBR2. Features of LDS that are not typical of MFS include craniofacial and neurodevelopmental abnormalities, and arterial tortuosity with increased risk for aneurysm and dissection throughout the arterial tree. Variants of the SMAD3 gene have been reported in families with a LDS-like phenotype with arterial aneurysms and tortuosity and early onset osteoarthritis. Variants of the TGFB3 gene have also been reported in families with an LDS-like phenotype, although these individuals tended to not have arterial tortuosity. TAAD is a genetic condition primarily involving dilatation and dissection of the thoracic aorta, but may also include aneurysm and dissection of other arteries. TAAD has a highly variable age of onset and presentation, and may involve additional features such as congenital heart defects and other features of connective tissue disease or smooth muscle abnormalities depending on the causative gene. The COL3A1 gene causes Ehlers Danlos syndrome, vascular type (type IV), an autosomal dominant connective tissue disease with characteristic facial features, thin, translucent skin, easy bruising, and arterial, intestinal, and uterine fragility. Arterial rupture may be preceded by aneurysm or dissection, or may occur spontaneously. The COL5A1 and COL5A2 genes cause Ehlers Danlos syndrome, classic type (type I and type II), an autosomal dominant connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, joint hypermobility, smooth, velvety skin, and easy bruising. The FLNA gene causes FLNA-related periventricular nodular heterotopia (PVNH), an X-linked neuronal migration disorder where the majority of affected individuals are female. This condition is characterized by seizures, hyperflexible joints, and cardiac findings, which include thoracic aortic aneurysm and dissection. Autosomal dominant variants of the FBN2 gene are known to cause congenital contractural arachnodactyly (CCA), which has several overlapping features with Marfan syndrome, including dolichostenomelia, scoliosis, pectus deformity, arachnodactyly, and a risk for thoracic aortic aneurysm. Variants of the CBS gene cause homocystinuria an autosomal recessive disorder of amino acid metabolism with clinical overlap with Marfan syndrome; including lens dislocation and skeletal abnormalities, as well as increased risk for abnormal blood clotting. Variants in the SKI gene cause Shprintzen-Goldberg syndrome (SGS), an autosomal dominant condition with overlap with LDS and MFS. Distinguishing features of SGS include hypotonia and intellectual disability. Aortic root dilatation is less frequent in SGS than in LDS or MFS, but, when present, it can be severe. Homozygous and compound heterozygous loss of function variants in the SLC2A10 gene have been described in arterial tortuosity syndrome, a condition characterized by generalized tortuosity and elongation of all major arteries in addition to other connective tissue disease features.

Test Preparation

No special preparation is needed for Marfan Syndrome. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Marfan Syndrome. Your doctor depending on your condition will give specific instructions.

Understanding your test results

GenderAge groupsValue
UNISEXAll age groupsGenes are observed to be mutated in positive cases
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