Cardiac involvement was assessed in 14 patients with Ribbing's disease, a rare hereditary sclerosing bone dysplasia. When compared to age-, sex- and blood pressure-matched controls, the patients with Ribbing's disease had significant alterations in left ventricular systolic and diastolic function and an impaired exercise tolerance. Supraventricular and ventricular arrhythmias also tended to be more frequent in these patients than in controls. In conclusion, Ribbing's disease, initially described as a skeletal disease only, also involves the cardiovascular system. Despite its rarity, the expression of the disease is easily followed and identification of the genetic defect could shed some new light on the pathophysiological mechanisms linking hypertension, myocardial hypertrophy and diastolic dysfunction.