11 Surprising Symptoms Associated With Noonan Syndrome
Noonan syndrome is a genetic condition that affects approximately one in every 1,000 to 2,500 people, yet many remain unaware of its full range of symptoms. While it’s commonly associated with heart defects, short stature, and minor eye issues, this complex disorder can manifest in unexpected ways, impacting multiple systems in the body. Caused by mutations in genes like PTPN11, KRAS, SOS1, and RAF1, Noonan syndrome is present from birth and can be diagnosed through clinical evaluation and genetic testing. However, because its symptoms vary widely in severity and presentation, early recognition is key to managing the condition effectively. To help raise awareness and improve early diagnosis, we’ve expanded our list to highlight 11 surprising symptoms of Noonan syndrome that many people don’t realize are linked to the disorder. From unusual facial features to bleeding disorders and feeding difficulties, these lesser-known signs can offer crucial clues for patients, families, and healthcare providers alike.
1. 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.
