Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

Abstract

Background: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme Nacetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease. Case presentation: A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age. Conclusions: We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry

“…Progressive hypertrophy may result from continued cardiac glycosaminoglycan accumulation that, in turn, results in diastolic dysfunction, a faster heart rate, and a smaller left ventricular dimension. For the severe phenotype, with little to no active alpha-L-iduronidase enzyme, this accumulation may occur more rapidly than in the attenuated phenotype, where enzyme levels may be has previously been reported in both mucopolysaccharidosis type I 39,49,50 and mucopolysaccharidosis type VI (Maroteaux-Lamy). 51 In the era of newborn screening, decreased cardiac systolic function is of clinical importance.…”

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

“…MPS-VII is clinically characterized by degenerative neurological symptoms, severe skeletal malformations (mostly thoracic deformity, scoliosis, and hip dysplasia), facial dysmorphism, hepatosplenomegaly, susceptibility to infections of the ear and respiratory tract, pulmonary complications and cardiac defects [665]. Our search resulted in 46 MPS-VII patients with cardiac involvement consisting of progressive CVD, ARe, AVS, AI, DAR, MVR, MVS, MI, TVR, MF, LVD, LVH, CH, early repolarization and T wave inversion and, in several cases, congestive HF [540,564,590,654,[666][667][668][669][670][671][672][673][674][675] (Table 6, Supplementary Tables S2 and S3). ERT in MPS-VII seems to stabilize some of the cardiac symptoms (although worsening cases have also been reported), while the effects on these symptoms due to HSCT are still under scrutiny in few clinical trials [676].…”

Mucopolysaccharidosis Type VI with Recurrent Chest Infection

“…Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive multi-systemic lysosomal storage disease that is autosomal recessive and caused by a lack of arylsulfatase B (ARSB), which causes dermatan sulfate to build up in the body, leading to the degradation of glycosaminoglycans (GAG), which is caused by mutations in the ARSB gene. It was first described by French doctors Pierre Maroteaux and Maurice Lamy in 1963 [5][6][7][8][9][10][11].…”