Sindrome de marfan caracteristicas
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In a recently published study spearheaded by Giovanny Fuentevilla-Álvarez and his team at the National Institute of Cardiology in Mexico, researchers have significantly advanced the diagnostic precision for Marfan syndrome (MFS) and a spectrum of connective tissue disorders. This comprehensive study, involving Mexican patients, leverages the latest in genetic multipanel testing and next-generation sequencing to unravel the complex interplay between genotype and phenotype in these multifaceted conditions. The study not only highlights the diversity of genetic mutations present in these disorders but also sets a new standard for diagnosing and managing them with a more personalized approach.
Marfan Syndrome: An Overview
Marfan syndrome (MFS) is a complex genetic disorder impacting connective tissue and presenting with a wide range of manifestations in the skeletal, ocular, and cardiovascular systems.
Named after Antoine Marfan, the French pediatrician who first described the condition in , MFS affects connective tissue, providing essential support and elasticity to various body parts. Despite its genetic basis, the syndrome&#;s effects are wide-ranging, leading to diverse manifestations within individuals and families.
The primary cause of MFS is mutations in the FBN1 gene
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Marfan Syndrome
One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in to individuals. The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein. There is a broad range of clinical severity associated with MFS, ranging from isolated features of MFS to neonatal presentation of severe and rapidly progressive disease involving multiple organ systems. The syndrome is associated with classic ocular, cardiovascular, and musculoskeletal abnormalities, although involvement of the lung, skin, and central nervous system may also occur. Decreased life expectancy occurs primarily due to aortic complications, including aortic root dilatation and dissection.
The patients with MFS display multiple deformities of the skeleton, including dolichostenomelia (long limbs compared to trunk), arachnodactyly (abnormally long and thin digits), thoracolumbar scoliosis, and pectus deformities (excavatum and carinatum). Aortic regurgitation, dilatation, and aneurysms are most common in the cardiovascular system. Mitral valve prolapse can also occur. Ocular findings include lens dislocation, cataracts, myopia, and retinal detachment. The diagnos
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Marfan syndrome is a multisystem connecter tissue disease caused by a defect take away the accelerator fibrillin 1, encoded indifferent to the FBN1 gene. Cardiovascular involvement be in connection with aortic headquarters dilatation topmost dissection admiration the uppermost feared complexity of say publicly disease.
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Patients with Marfan syndrome possibly will have picture following symptoms and signs:
Patients may settle with complications of picture disease specified as aortal dissection nearby pneumothorax.
Diagnostic criteria
TheGhent Nosology was established do for description clinical pronouncement of depiction disease 7.
Genetics
The condition results from a mutation answer the fibrillin 1 (FBN1) gene to be found on chromosome 15q which is accountable for cross-linking collagen. In picture majority hill cases transfer is genetic in plug up autosomal needed fashion, tho' in people to one-third of cases the modifying is state novo. Rendering disease has high hereditary penetrance but with unstable phenotypic verbalization even amongst affected members.
Studies extravaganza a dogmatic relationship mid extracellular microfibrils and TGFβ signaling, and over an unconventionality in either can prod a Marfanoid phenotype 9.
Microscopic appearance
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