抄録
A study is presented of 3 generations of a family in which cardiovascular disease combined with skeletal anomalies occurs. The cardiovascular disease consists principally of primary pulmonary hypertension, although congenital heart disease with shunt is also to be observed. The skeletal anomalies occur mainly in the radial anlage of the upper extremity.
The mutual occurrence of primary pulmonary hypertension and congenital heart disease with shunt makes logical the conclusion that pulmonary hypertension in the case of congenital heart disease is not always secondary but may be a primary likewise congenital defect. Since up until now the genetic aspect of primary pulmonary hypertension is the only definitely established feature, the disease should really be called familial or hereditary primary pulmonary hypertension.
