Detection of Familial Primary Pulmonary Hypertension by Genetic Testing

To the Editor: A familial form of primary pulmonary hypertension has been described and characterized. 1 , 2 Its incidence in the general population ranges from 1 to 2 cases per million people, and it accounts for 6 percent of the 187 cases of primary pulmonary hypertension in the registry of the National Institutes of Health. 3 The histopathologic and clinical features of the familial form of the disease are the same as those of the sporadic form. Familial primary pulmonary hypertension is inherited as an autosomal dominant trait with incomplete penetrance. We recently reported 4 its linkage to a 27-centimorgan region on chromosome . . .