[Hypertrophic non-obstructive cardiomyopathy in rigid spine syndrome]

Abstract

A case report is given of a 37-year-old patient suffering from rigid spine syndrome and hypertrophic non-obstructive cardiomyopathy. Clinical-cardiological and neurological findings are discussed. This is the first description of such a case in the German-language region; only two other similar publications are found in the whole literature. Follow-up is documented over a period of 10 years; apart from the early dominating neuro-muscular deficit, we saw only a mild progression of symptoms. Signs of an increasing diastolic dysfunction of the left ventricle without clinical complaints were the main cardiological findings. Because of substantial progress in elucidating the genetics of hypertrophic cardiomyopathies over recent years, case reports about the association of two different type of muscular disorders are thought to be of special interest in terms of a common etiological basis.