Ecocardiographic Findings in Patients with Mucopolissacaridose II And VI: Report of Two Cases

Mucopolysaccharidoses (MPS) are disorders of lysosomal storage characterized by functional deficiency caused by the genetic mutation of one of the lysosomal enzymes that act in the catabolism of Glycosaminoglycans (GAG), previously known as mucopolysaccharides.1 It is a hereditary disease of an autosomal recessive form, or X-linked recessive, and with different phenotypes.2 Cardiovascular involvement is common, occurring more frequently in types I, II and VI.1,3,4 Two-dimensional transthoracic echocardiography is the method of choice for diagnosis and follow-up when there is cardiac involvement. It is extremely relevant for the echocardiographers to be familiar with this entity. We report the case of two patients diagnosed with MPS (types II and VI), with valvular heart impairment.