Przyrembel H
Abteilung für Stoffwechselkrankheiten, Universitäts-Kinderklinik, Rotterdam, Niederlande.
Wien Klin Wochenschr. 1989 Jan 6;101(1):1-8.
Inborn errors of metabolism can lead to cardiac disease via pathological changes in the vessels, heart valves, the ventricular wall and through direct impairment of myocardial metabolism. Disturbances of ventricular function, of conduction, and ischaemic heart disease can lead to death in a variety of metabolic diseases. The exact diagnosis of the metabolic defect leads in some cases to specific therapy or to prophylactic measures and allows genetic counselling of the family and prenatal diagnosis.