GENERAL MEASURES Multidisciplinary approach including primary care physician, cardiologist,
ophthalmologist and possibly orthopedic surgeon. A clinical geneticist if available, would be ideal as primary
care physician.
SURGICAL MEASURES
. Many, if not most, of these patients will ultimately require reconstructive cardiovascular surgery . Aorta and aortic valve replacement . Mitral valve replacement
- PROPHYLACTIC AORTIC ROOT REPLACEMENT WHEN AORTIC ROOT DIAMETER REACHES OR EXCEEDS 5 CM, BECAUSE OF RISK OF DISSECTION.
- MITRAL VALVE REPLACEMENT IN SEVERE REGURGITATION
ACTIVITY
. Fully active unless limited by symptoms
. Several highly-trained athletes with the Marfan syndrome have suffered sudden death during competition
leading to some concern that people with Marfan syndrome should be discouraged from participating in
aerobically demanding sports
- GENERAL CARE FOR ENDOCARDITIS PROPHYLAXIS IN CASE DENTAL TREATMENT OR ANY OTHER INVASIVE PROCEDURE IS TO BE DONE.
DRUG TREATMENT :
- BETA BLOCKERS
- LOSARTAN HAS BEEN SHOWN , IN FIBRILLIN DEFICIENT MICE TO NORMALIZE AORTIC ROOT GROWTH - A CLINICAL TRIAL.
β’ No specific medical therapy is available, however drugs are used to try to prevent certain complications
β’ Propranolol or other beta-adrenergic blocking drugs are used to decrease the force of cardiac contraction,
in the hope of delaying the development or progression of aortic root dilatation. The dosage of these drugs are
adjusted to target heart rate, i.e., resting rate of 60 per minute, with a rise to no more than 80 per minute after
moderate exertion.
β’ Calcium channel blockers have also been shown to retard aortic growth in children and adolescents
β’ Estrogen combined with progestogen has been used to induce puberty in pre-adolescent girls in an attempt to shorten the growth spurt thereby ameliorating scoliosis and preventing excessively tall stature. Do this only
under the supervision of an endocrinologist.
PATIENT MONITORING
β’ Frequent examinations (at least twice a year) while growing, with particular attention to cardiovascular
system and scoliosis
β’ When cardiac symptoms develop or aortic root diameter becomes > 50 mm, surgical intervention must be
considered
β’ When lens subluxation is detected, surgical correction is possible. However a high incidence of glaucoma
results, so surgery should be offered only to those who cannot be treated with corrective lenses.
PREVENTION/AVOIDANCE
β’ No prenatal diagnosis yet available, but presymptomatic diagnosis may be possible at research centers
using linkage analysis techniques
β’ Each child has a 50% chance of inheriting the disorder from an affected parent. Clinical manifestations are
variable, however, so children may be more or less severely affected.
β’ Antibiotic prophylaxis for endocarditis should be prescribed for all Marfan syndrome patients with either a heart murmur or echocardiographic evidence of valvular or aortic root abnormalities
β’ Especially tall athletes should be screened for aortic root dilation
POSSIBLE COMPLICATIONS
β’ Bacterial endocarditis
β’ Aortic dissection
β’ Aortic or mitral valve insuffi ciency
β’ Dilated cardiomyopathy
β’ Retinal detachment
EXPECTED COURSE/PROGNOSIS
β’ Life-threatening complications are cardiovascular. Before routine corrective surgery was available most
Marfan syndrome patients died before reaching the age of 35.
β’ With appropriate surgical intervention most patients can live a normal life span