11 Surprising Symptoms Associated With Noonan Syndrome
5. Pectus Excavatum Or Carinatum
Pectus excavatum or carinatum may develop for some patients with Noonan syndrome. Pectus excavatum is a sunken chest, and pectus carinatum is a type of chest protrusion called funnel chest. Most patients with pectus excavatum have a mild dent in the chest and experience only minor symptoms, if any. For patients with more severe cases of pectus excavatum, the breastbone tends to compress the heart and lungs. This compression often results in wheezing, coughing, chest pain, fatigue, and a decreased tolerance for exercise. Heart palpitations, a rapid heartbeat, or a heart murmur may also be present. Pectus carinatum causes the chest to jut out, and patients with this condition may experience fatigue, chest pain, rapid heartbeat, and shortness of breath. Both pectus excavatum and pectus carinatum can usually be diagnosed with a physical exam. Patients may also have a chest x-ray, electrocardiogram, and CT or MRI scans to check for internal damage to the heart or lungs. Surgery may be advised for severe cases of pectus excavatum. Patients with pectus carinatum may be offered a chest brace that can push the chest wall back to a normal position. In some cases, surgical procedures such as the Ravitch procedure might be recommended.
6. Unusual Bruising and Bleeding Disorders
People with Noonan syndrome often experience easy bruising and prolonged bleeding, even from minor injuries or routine procedures like dental work. This occurs due to underlying clotting abnormalities, such as platelet dysfunction or deficiencies in clotting factors. In some cases, patients may have von Willebrand disease, a bleeding disorder that affects blood clot formation. Parents might notice frequent nosebleeds, excessive bruising after play, or prolonged bleeding from cuts and scrapes. Women with Noonan syndrome may also experience heavy menstrual bleeding (menorrhagia). Since these clotting abnormalities can pose serious risks during surgery or childbirth, early diagnosis and management—including blood tests and medication—are crucial.
