After the inquest, Ms Mufford called for improved care for people diagnosed with Marfan syndrome
The gene defect in Marfan syndrome
leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.
Around one in 5,000 people has Marfan syndrome
: those who carry the gene have a 50% chance of passing it on.
But despite everything she has been cheered by the generosity of people who have supported her Facebook appeal for Marfan Trust which supports the diagnosis and treatment of Marfan syndrome
With a view to highlighting a severe cardiovascular manifestation in a patient with Marfan syndrome
, as well as the underlying risk factors for such complications, we present the case of a 47-year-old patient addressed to our clinic with dyspnea and orthopnea, dizziness and fatigue, symptoms that had occurred for about 3 months and progressively worsened over the last week.
The ocular features of Marfan syndrome
results in decreased vision including bilateral ectopic lentis 80%, (subluxation is most frequently superotemporal), myopia and retinal detachment.
is a spectrum of heritable disorders of connective tissue with a high degree of clinical variability.
Genetic Testing Panel for Marfan Syndrome
and Next-Generation Sequencing.
There is no previous report in the literature about its association with Marfan syndrome
. We describe here a case of a female with Marfan syndrome
, who was diagnosed with symptomatic anomalous origin of the left coronary artery in the right Valsalva sinus.
In summary we describe the case of a 43-year-old male with a novel pathogenic variant in FBN1 causing Marfan syndrome
with the rare phenotype of bilateral popliteal aneurysms.
(MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 .
(MFS) is an autosomal dominant inherited disease associated with systemic connective tissue disorders, particularly involving the ocular, cardiovascular, and skeletal systems.