Pulmonary stenosis

This is an autosomal dominant hereditary disorder characterised by a progressive loss of the bile ducts within the liver and narrowing of the bile ducts outside the liver. It is also associated with congenital heart disease, and in particnlar pulmonary stenosis. Symptoms are related to chronic cholestasis and include jaundice, pruritus, pale loose stools and poor growth within the first three months of life. The majority of children have a benign course and many cases go undetected however, there is an overall mortality of 20-30% due to progressive liver disease with the development of cirrhosis, cardiac disease or intercnrrent infection. 

A syndromatic variant, AlagUle syndrome, has similar features but is an autosomal dominant condition with a characteristic triangular face, skeletal abnormalities, retinal pigmentation, and pulmonary stenosis. 

Moderate-risk conditions Mitral valve prolapse with valvular regurgitation or leaflet thickening, isolated mitral stenosis, tricuspid-valve disease, pulmonary stenosis, and hypertrophic cardiomyopathy... 

In about 40% of cases in which the disease is of long standing, organic changes develop in the heart. The pulmonary and tricuspid valves become thickened and sometimes even stenotic the endocardium, the chordal tendinae, and the papillary muscles are also frequently involved. Clinically, the signs of pulmonary stenosis and insufficiency become increasingly marked. The fact that the valves and the endocardium of the left heart are substantially less affected is related to the experimentally proved detoxication of 5-hydroxytryptamine by thelungs. " 1610-15, iss ) Measure-... 

Feyrter, F., Ober die endokrin-nervose Enteropathie (sog. chronische Enteritis), pathologisch-anatomische Ausfiihrung, Verh. Dtsch. Ges. inn. Med. 52, 458 (1940). Biorck, G., Axen, O. and Thorson, A., Unusual cyanosis in a boy with congenital pulmonary stenosis and tricuspid insufficiency fatal outcome after angiocardiography. Am. Hearts. 44,143 (1952). 

Thorson, A., Biorck, G., Bjorkman, G. and Waldenstrom, J., Malignant carcinoid of the small intestine with metastases to the liver, valvular disease of the right side of the heart (pulmonary stenosis and tricuspid regurgitation without septal defects) peripheral vasomotor symptoms, bronchoconstriction, and an unusual type of cyanosis. Am. Hearts. Al, 795 (1954). 

There also has been an explosion of therapeutic possibilities both medical and surgical. Witness the growth of closed heart surgery from closure of a patent ductus arteriosus and repair of coarctation of the aorta and mitral valvulotomy, profound hypothermia for atrial septal defect closure and pulmonary stenosis, open heart surgery, with cross-circulation and later extracorporeal circulation for valve repair and replacement, repair of complex congenital malformations and coronary artery bypass surgery and more recently the development of less invas-... 

In humans, mutations in the gene encoding for MGP cause the Keutel syndrome, a rare disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis, and extensive arterial calcification. - Interestingly, unlike mouse models of MGP knockout, patients with Keutel syndrome survive into adulthood, signifying the role of other factors in humans that inhibit vascular calcification. 

A heart murmur and findings compatible with pulmonary stenosis were present in the 8 year-old child of the Missouri family. Electrocardiographic evidence for... 

Schneider MB, Zartner PA, Magee AG (1999) Images in cardiology Cutting balloon for treatment of severe peripheral pulmonary stenosis in a child. Heart 82 108 Shepard P, Thomas R, Harmon EP (1988) Urolithiasis in children innovations in management. J Urol 140 790-792... 

RVH with associated ST-T wave abnormalities (strain), and right axis deviation. ECG taken from a 32 year old fonale with congenital pulmonary stenosis... 

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