Childhood hypertension in autosomal-dominant hypertension with brachydactyly

Affected individuals with autosomal-dominant hypertension with brachydactyly syndrome develop severe progressive hypertension and, if left untreated, develop stroke by age <50 years. In 1996 we described hypertension and brachydactyly and presented data on adults. We recently revisited this family and performed further studies, focusing particularly on the children in this family. We performed a genome-wide single-nucleotide polymorphism genotyping linkage analysis and confirmed our earlier linkage results. We accrued interesting ancillary data that we attribute to the rearrangements that we described earlier. We performed additional analysis focused on providing clinical criteria for the diagnosis in children and particularly to monitor the onset and to display the age-dependent development of hypertension and brachydactyly. We investigated 30 children; 12 were affected, whereas 18 were not. Brachydactyly with short stature presented as a maturing phenotype, becoming obvious during the prepubertal growth spurt. Stage 2 hypertension was already present in toddlers and increased with age. Thus, blood pressure measurement, rather than brachydactyly, was the most reliable phenotype for the very early diagnosis in children. Importantly, hypertension with brachydactyly occurs worldwide. Once the diagnosis is made, we recommend treatment of all individuals with stage 2 hypertension according to the current European and US guidelines on hypertension in children and adolescents.