Athlete’s heart.
A hereditary condition in which a person has extremely long fingers and toes, with disorders of the heart, aorta and eyes.
Marfan syndrome is a genetic autosomal dominant disorder that affects the connective tissue of the cardiovascular, musculoskeletal, and ocular systems. Agene mutation, thought to be the FBN1 gene of Chromosome 15, causes a defect in the body’s production of fibrillin, an important building block of connective tissue. Marfan syndrome is found in males and females equally and affects between 1 in 5,000 and 1 in 10,000 individuals. There are no known ethnic or socioeconomic status variations (National Organization for Rare Disorders [NORD], 2000).
A rare genetic disorder of the body’s connective tissue, affecting the heart and circulatory system, lungs, eyes, and skeletal system. Common symptoms include long fingers (the traditional name, arachnodactyly, means “spider fingers”); long, thin skeleton; scoliosis (sidewise curvature of the spine); dislocated lens in the eye; and outsize valves and aorta in the heart. Though the disorder is sometimes recognizable nearly from birth, people occasionally grow to adulthood not knowing they have the syndrome until their lungs collapse or heart suddenly fails. Women with Marfan syndrome are especially prone to heart problems during pregnancy. Because it is passed on by a single autosomal dominant gene, people with a family history of Marfan syndrome may want to seek genetic counseling when considering pregnancy.
An inherited disorder that affects many body systems, such as the skeletal, respiratory, and cardiovascular; and the eyes.
An inherited disorder of the connective tissue primarily affecting the eyes and the skeletal, cardiovascular, and central nervous systems.
An inherited disorder of connective tissue characterized by excessive height, abnormally long and slender fingers and toes (arachnodactyly), heart defects, and partial dislocation of the lenses of the eyes.
An inherited disorder affecting about one person in 50,000 in which the connective tissue is abnormal. The result is defects of the heart valves, the arteries arising from the heart, the skeleton and the eyes. The victims are unusually tall and thin with a particular facial appearance (the US President Abraham Lincoln was said to have Marfan’s) and deformities of the chest and spine. There are very long fingers and toes and their joints and ligaments tend to be weak. Orthopaedic intervention may help, as will drugs to control the heart problems. Medical follow-up is essential to detect and treat complicarions such as aortic aneurysm. As affected individuals have a 50 per cent chance of passing on the disease to their children, they should receive genetic counselling.
A hereditary condition impacting the skeletal system, joints, and blood vessels. Prominent characteristics include abnormally elongated arms and legs, loose joints, and abnormalities in the vascular system.
Marfan syndrome is a genetic disorder affecting the body’s connective tissue, which serves to hold various structures together. This condition leads to irregularities in the skeletal structure, heart function, and eye characteristics. It is inherited through an autosomal dominant pattern. Among disorders impacting connective tissue, Marfan syndrome stands as one of the most prevalent.
The characteristics associated with Marfan syndrome typically manifest after the age of 10. Individuals affected by this syndrome tend to be notably tall and slender. They exhibit elongated and slender limbs, fingers, and toes, along with ligaments and tendons that are relatively fragile. Frequently, there are deformities in the chest and spine, and the eye’s lens might become dislocated. Moreover, abnormalities in the heart and a weakened aorta are common occurrences.
Although there is no known cure for Marfan syndrome, children are regularly monitored, and any arising complications are addressed accordingly. Many children with the condition require corrective lenses. Beta-blockers might be prescribed to aid in averting aorta weakening, and for those with heart valve or aorta defects, corrective surgery may be considered.
In families where an individual has Marfan syndrome, tests can be conducted to determine if the gene will be transmitted to other family members.