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Examines a family with autosomal dominant hypertension and brachydactyly in Turkey. Residence of the responsible gene on chromosome 12p; Similarity of blood pressure reduction to single drug trials in hypertension; Sodium and potassium concentrations in the salivary electrolytes.

Laboratory studies in patients with autosomal-dominant hypertension and brachydactyly showed increased sensitivity to sympathetic stimuli and severe abnormalities in baroreflex buffering. To further elucidate the mechanisms by which impaired baroreflex sensitivity could influence blood pressure (BP), we conducted autonomic testing under field conditions. We studied 17 hypertensive affected (13 to 48 years, BMI 22.7 +/- 6.5 kg/m(2), 160 +/- 23/98 +/- 15 mm Hg) and 12 normotensive non-affected (9 to 60 years, BMI 24.0 +/- 4.7 kg/m(2), 120 +/- 16/70 +/- 10 mm Hg) family members. Pulse intervals and finger BP were measured using the Portapres device. Valsalva ratio, the blood pressure overshoot during phase IV of the Valsalva manoeuver, the Ewing coefficient (RR30/15 ratio), and heart rate and BP variability were similar in affected and non-affected family members. Overall, baroreflex sensitivity calculated using the cross-spectral (BRSLF, BRSHF) and sequence techniques (BRS+, BRS-) was not different between the groups. However, in younger family members, BRS+ was 12 +/- 3.7 and 22 +/- 13 msec/mm Hg in affected and in non-affected family members, respectively. The decline in BRS with age and with increasing blood pressure was absent in affected family members. We conclude that autonomic reflex testing conducted under field conditions is not impaired in patients with monogenic hypertension and brachydactyly. However, noninvasive testing showed impaired baroreflex control of heart rate at a young age. The reduced BRS in young family members with moderate arterial hypertension may suggest that the impaired baroreflex function is not secondary to the hypertension but rather a primary abnormality, which aggravates the progression of hypertension.