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European Heart Journal 1994 15(8):1124-1128;
Copyright © 1994 by the European Society of Cardiology.
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© 1994 The European Society of Cardiology

Cardiac involvement in Ribbing's disease

G. COCCO, C. KOVAC, C. SFRISI and H. POULEUR*,

From the Division of Cardiology Rehaklinik Rheinfelden, Switzerland
*University of Louvain Brussels, Belgium

Received 12 November 1993; revised 3 March 1994; .

Correspondent. Hubert Pouleur, MD, University of Louvain, at Hippocrate 55/5560, B-1200 Brussels, Belgium.

Abstract

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.

Key Words: Ribbing's disease • diastolic function • hypertension • left ventricular hypertrophy


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