Symptoms Associated With Noonan Syndrome

Noonan syndrome is a relatively common genetic condition that occurs in approximately one out of every 1,000 to 2,500 individuals. Symptoms are present from birth, and the disorder develops due to alterations in certain genes. Currently, researchers have identified changes in the KRAS, SOS1, RAF1, and PTPN11 genes that lead to Noonan syndrome. Noonan syndrome can be diagnosed with a clinical examination from a specialist familiar with the condition. In addition, genetic testing is often performed. 

This syndrome affects both males and females, and symptoms generally include congenital heart problems, short stature, and strabismus or other minor eye issues. Treatment for Noonan syndrome includes regular monitoring and is tailored to each patient's symptoms. Treatment is typically provided by the child's pediatrician and a specialist team that may include cardiologists, geneticists, and others.

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy occurs when the heart muscle thickens, increasing the effort it takes to pump blood throughout the body. Most patients with hypertrophic cardiomyopathy are asymptomatic, and the ailment sometimes goes undetected. In patients who do have symptoms, they include shortness of breath, chest pain, and abnormal heart rhythms (arrhythmias). Shortness of breath and chest pain usually occur after exercise or exertion, and patients may also notice a pounding or fluttering sensation in their chest. A small number of patients might have a heart murmur, and this can be detected when a doctor listens to the heart with a stethoscope. 

To diagnose hypertrophic cardiomyopathy, clinicians perform a physical exam of the cardiovascular system, and they will also order electrocardiograms (ECG) and echocardiograms. In some cases, patients might be asked to wear a Holter monitor (a portable ECG) for a few days or to undergo a treadmill stress test, cardiac MRI, or cardiac catheterization. To treat hypertrophic cardiomyopathy, doctors begin by prescribing beta blockers or calcium channel blockers to reduce the patient's heart rate and enable the heart to pump more easily. Patients may also be prescribed amiodarone or other medicines to treat arrhythmia. Surgical interventions, including septal ablation and septal myectomy, may be recommended for patients with advanced stages of hypertrophic cardiomyopathy.