![]() This can occur with or without other problems in heart structure. Or there can be narrowing of the major blood vessel known as the aorta, which carries blood from the heart to the body. This is called pulmonary artery stenosis. Another defect sometimes seen is narrowing of the artery that carries blood to the lungs for oxygen. ![]() This is called a ventricular septal defect. Problems with heart structure can involve a hole in the wall that separates the two lower chambers of the heart, known as ventricles. Unusual growth or thickening of the heart muscle - also known as hypertrophic cardiomyopathy - affects some people with Noonan syndrome. It may occur with or without other heart problems. Pulmonary valve stenosis is the most common heart problem seen with Noonan syndrome. This valve is the flap of tissue that separates the lower right chamber of the heart - called the right ventricle - from the artery that supplies blood to the lungs - called the pulmonary artery. Pulmonary valve stenosis is a narrowing of the pulmonary valve. Some forms of congenital heart disease related to Noonan syndrome include: Also, some heart problems can occur later in life. ![]() Many people with Noonan syndrome are born with a heart problem that causes some of the key symptoms of the condition. Skin may appear thin and transparent with age.Head may be large with a big forehead and a low hairline on the back of the head.The face may appear droopy and not show expression. Facial features may appear coarse but look sharper with age.The inside roof of the mouth may be highly arched. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip. ![]() Nose is depressed at the top, with a wide base and round tip.Ears are set low and look like they're tipped backward.Eyes are wide-set, slant down and have droopy lids.Noonan syndrome may include these features: These distinct features become less clear in adults. Facial features may be easier to see in infants and young children but change with age. How the face looks is one key feature that leads to a diagnosis of Noonan syndrome. These symptoms may be related to the specific gene containing the change. Symptoms of Noonan syndrome vary greatly and range from mild to severe. ![]()
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