Management

Since there is no cure for MYHRS, most therapies are planned based on the clinical manifestations. Referral of patients to physical therapy and special education programs, as well as ensuring that families receive support (such as through the Myhre Syndrome Foundation), is particularly important.

Several key points
Cardiac and respiratory evaluations are particularly important as they are among the most common causes of death. The use of growth hormone for treating short stature is currently not recommended. For surgical procedures, minimally invasive methods should be preferred, as excessive tissue trauma may lead to stenosis or a scarring-type tissue response. To minimize the risk of traumatic intubation, it is advisable to use a smaller-d, uncuffed endotracheal tube.

Investigational Therapies
The angiotensin II type 1 receptor antagonist losartan indirectly inhibits transforming growth factor beta (TGFβ) signaling. In fibroblasts derived from individuals with Myhre syndrome, losartan was found to correct a defect in extracellular matrix deposition. As a result, three individuals with Myhre syndrome were treated with losartan, resulting in improvements in skin thickness, joint mobility, and myocardial strain. Nevertheless, to confirm losartan’s effectiveness on skin, joint, and cardiac abnormalities in Myhre syndrome, larger-scale, long-term controlled clinical trials are necessary.