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Marfan syndrome is treated by addressing each issue as it arises and, in particular, preventive medication even for young children to slow progression of aortic dilation. The goal of this treatment strategy is to slow the progression of aortic dilation and prevent any damage to heart valves by eliminating heart arrhythmias , minimizing the ...
Family members with the same mutation may show different severities of disease, a phenomenon known as "variable penetrance". As a result, some may remain asymptomatic, with little lifelong evidence of disease. Nevertheless, their children remain at risk of inheriting the disorder and potentially being more severely affected. [16]
A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome. [3] Congenital heart defects are divided into two main groups: cyanotic heart defects and non-cyanotic heart defects, depending on whether the child has the potential to turn bluish in color. [3]
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little ...
A condition called peripheral artery disease (PAD), for example, occurs when the arteries that carry blood from the heart to the legs get clogged; it’s associated with an increased risk of heart ...
ASD, and a first degree heart block. Hypoplastic left heart syndrome: Jacobsen syndrome: genetic (Chromosome 11q deletion) Jaffe–Campanacci syndrome: Jervell and Lange-Nielsen syndrome: genetic (autosomal recessive) a type of long QT syndrome: Kabuki syndrome: Kearns–Sayre syndrome: Long QT syndrome: Lutembacher's syndrome: Malpuech facial ...
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.