نتایج جستجو برای: marfan syndrome
تعداد نتایج: 622133 فیلتر نتایج به سال:
A 53-year-old Caucasian woman was diagnosed in late childhood with Marfan syndrome according to characteristic skeletal features and bilateral lens dislocation. In addition, she has a history of nonischemic cardiomyopathy with severe left ventricular failure and atrial fibrillation, diabetes mellitus type 2, hyperlipidemia, progressive dementia, numbness in the lower extremities, and hypothyroi...
A patient with the Marfan syndrome died suddenly from aortic rupture and dissection in the early puerperium of her second pregnancy. Although the association of the Marfan syndrome and pregnancy is extremely rare, the case reported here being only the fifth on record, the concurrence of dissecting aneurysm or aortic dissection with pregnancy is more frequent. Furthermore it is accepted that aor...
The Blueprint Genetics Aorta Panel is an efficient genetic diagnostic tool targeted for aortic dilatation and aortic aneurysm diseases. The Aorta Panel covers 18 genes associated with non-syndromic and syndromic aortic disease. Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as Marfan syndrom...
BACKGROUND In many cardiac units, aortic valve-sparing operations have become the preferred surgical procedure to treat aortic root aneurysm in patients with Marfan syndrome, based on relatively short-term outcomes. OBJECTIVES This study examined the long-term outcomes of aortic valve-sparing operations in patients with Marfan syndrome. METHODS All patients with Marfan syndrome operated on ...
This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment for height control were included. Estradiol valerate was started at a dose of 2 mg/day, and then was increased. The projected final height was estimated using the initial height percentile (on a dise...
This case report a rare case of 67-year-old man, presented with Marfan’s syndrome, cataract and crystalline lens dislocation of the left eye. The best corrected visual acuity (BCVA) of the left eye was 0.2. Cataract surgery was asissted by femtosecond laser LenSx. One month after surgery uncorrected visual acuity (UCVA) of the left eye was 0.9, BCVA with sph. +1.5 was 1.0. Intraocular lens have...
a 22 year old male referred with palpitation. general appearance and physical exam impressed us in that the patient has marfan syndrome. cardiac catheterization showed diffuse arterial ectasia. we found no previous report of this generalized diffuse ectasia.
BACKGROUND Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome. Life-threatening complications of aortic aneurysm can be decreased through early diagnosis. Genetic screening for mutations in populations at risk, such as patients with adolescent idiopathic scoliosis,...
Beta-blockers, eg, atenolol, are the cornerstone therapy for thoracic aortic aneurysm (TAA) in patients with Marfan syndrome; however, continued aortic dilatation has been reported. We have demonstrated that matrix metalloproteinase (MMP)-2 and -9 were upregulated during progression of TAA in Marfan syndrome, accompanied with degenerated elastic fibers and vasomotor dysfunction. We hypothesized...
BACKGROUND Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffne...
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