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Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation.
Differences in right atrial and ventricular mechanics and liver stiffness was also observed in adults with repaired TOF, as well as pulmonary atresia and persistent pulmonary stenosis. [78] In patients with pulmonary atresia, there is complete failure of forward flow from the right ventricle to the pulmonary arterial vasculature. As such ...
Pulmonary artery stenosis (PAS) is a narrowing of the pulmonary artery.The pulmonary artery is a blood vessel moving blood from the right side of the heart to the lungs. . This narrowing can be due to many causes, including infection during pregnancy, a congenital heart defect, a problem with blood clotting in childhood or early adulthood, or a genetic ch
The right ventricle is more muscular than normal, causing a characteristic boot-shaped appearance as seen by chest X-ray. This enlargement is generally a secondary condition, resulting from increased pressure. Pulmonary valve defects resulting in tricuspid regurgitation, a common effect of pulmonary stenosis, can cause this increase in muscle mass.
Pulmonic stenosis is usually due to isolated valvular obstruction (pulmonary valve stenosis), but it may be due to subvalvular or supravalvular obstruction, such as infundibular stenosis. It may occur in association with other congenital heart defects as part of more complicated syndromes (for example, tetralogy of Fallot). [citation needed]
Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with pulmonary valvular stenosis being the most common (50–60%). [9]
Pulmonary valve diseases are the least common heart valve disease in adults. [1] [4] Pulmonary valve stenosis is often the result of congenital malformations and is observed in isolation or as part of a larger pathologic process, as in Tetralogy of Fallot, Noonan syndrome, and congenital rubella syndrome. Unless the degree of stenosis is severe ...
Congenital cardiac anomalies including pulmonary artery stenosis and patent ductus arteriosus can be seen in infants with CRS. Infants should undergo cardiac evaluation soon after birth and those with confirmed cardiac lesions will require specialized care with a pediatric cardiologist for any interventions and follow-up care.