Pulmonic Stenosis

Coblentz and Mathivat (1952) described 2 sisters with pulmonic stenosis. Lamy et al. (1957) found increased parental consanguinity in pulmonic stenosis and described 1 instance of 2 affected sibs. Consanguinity effect is to be expected of a multifactorial trait, so that this, like the occurrence of affected sibs, is not proof of simple recessive inheritance. David (1974) observed a family with 4 affected persons in 3 generations: grandfather, 2 of his daughters, and a son of 1 of the daughters. McCarron and Perloff (1974) observed father and daughter with classic valvular pulmonic stenosis. Pulmonic stenosis due to myxomatous dysplasia of the valve occurs as part of the Noonan syndrome (163950), which is clearly mendelian. Patterson et al. (1981) did genetic studies of hereditary pulmonary valve dysplasia in beagles. They concluded that the disorder is not a simple mendelian trait and that genes at more than one locus predispose to abnormal development of the pulmonary valve. The risk increased with inbreeding. They maintained that so-called typical pulmonary stenosis is fundamentally the same as pulmonary valve dysplasia.