Marfan's Syndrome | Congenital Heart Disease - Cove …
The cause of pectus excavatum is not known however it can run in families, with up to 25 percent of affected patients reporting chest wall abnormalities in other family members. Pectus excavatum occurs in approximately 1 out of 400–1000 children and is three to five times more common in males than females. This may be an isolated abnormality or may be found with other malformations including scoliosis, kyphosis, and connective tissue disorders such as Marfan syndrome. The deformity usually becomes more severe as the child grows.
OMIM Entry - # 154700 - MARFAN SYNDROME; MFS
26. Forteza A, Evangelista A, Sanchez V, et al. Study of the efficacy and safety of losartan versus atenolol for aortic dilation in patients with Marfan syndrome. ;64:-
10. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. ;312:-
Marfan’s Syndrome: Symptoms, Causes, and Treatments
Dr. Dietz reports holding a pending patent (2014/0148,498) related to transforming growth factor β-antagonists, including angiotensin II type 1–receptor blockers, and the multisystem pathogenesis of Marfan's syndrome. No other potential conflict of interest relevant to this article was reported.
Marfan Syndrome-Pictures, Symptoms, Treatment, Life …
In conclusion, this trial involving children and young adults with Marfan's syndrome and aortic-root dilatation did not show the expected advantages of losartan over atenolol. The rate of change in the aortic-root z score over the 3-year period did not differ significantly between the atenolol group and the losartan group.
A Hand-Test for recognizing Marfan syndrome
19. Selamet Tierney ES, Levine JC, Chen S, et al. Echocardiographic methods, quality review, and measurement accuracy in a randomized multicenter clinical trial of Marfan syndrome. ;26:-
Marfan syndrome (MFS) is a genetic disorder of the connective tissue
This trial had several limitations. First, we did not assess the effect of losartan therapy on TGF-β. Second, the study results may not be generalizable to persons with Marfan's syndrome who have a body-surface area–adjusted aortic-root z score of 3.0 or less. Third, the statistical power of the study was limited for the detection of significant subgroup findings and treatment differences for relatively low rates of clinical events. Fourth, the primary outcome was assessed by core laboratory personnel who were unaware of the treatment assignments; however, personnel supervising the study-drug adjustments were aware of the treatment assignments, and some participants may have discovered their treatment assignment on the basis of the appearance of the study drug. Finally, we recognize the limitations of a surrogate end point but believed a trial with a hard clinical end point to be impractical, given the rarity of aortic dissection or the need for aortic surgery in young patients.
Marfan Syndrome Symptoms, Causes, Treatments - …
There are methodologic differences between our study and other, smaller studies that have shown a benefit of losartan therapy. These include a direct comparison of losartan with a beta-blocker in our study versus comparison of a combination therapy with a beta-blocker alone in other studies, similar blood pressures versus differential lowering in the treatment groups, the inclusion of both children and young adults versus adults alone, and the exclusion of patients with prior aortic surgery versus the inclusion of such patients. In one study involving a small number of participants, most of whom were children, combined open-label losartan and beta-blocker therapy decreased the rate of aortic-root dilatation more than did beta-blocker therapy alone. The target doses of the beta-blocker administered (maximum dose, 150 mg per day in adults and 2 mg per kilogram per day in children) were smaller than in our study, and the exact doses achieved were not reported. In contrast to the patient population in a retrospective study reported by Brooke et al., which showed a marked beneficial effect of an ARB plus beta-blockers as compared with previous therapy with beta-blockers alone, our study population had a higher average age, the average aortic-root z score was lower, and the beta-blocker dose was higher. Other trials of therapy in patients with Marfan's syndrome are currently under way.