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Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI

S Hayflick1, S Rowe, A Kavanaugh-McHugh

  • 1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.

The Journal of Pediatrics
|February 1, 1992
PubMed

Insights

Mucopolysaccharidosis VI can cause acute infantile cardiomyopathy in infants. This rare genetic disorder should be considered in the differential diagnosis of infant heart conditions.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Cardiology

Background:

  • Acute infantile cardiomyopathy presents a diagnostic challenge in neonates and infants.
  • Mucopolysaccharidoses are a group of inherited metabolic disorders.
  • Mucopolysaccharidosis VI (MPS VI) is caused by a deficiency in arylsulfatase B.

Observation:

  • A case study of an infant diagnosed with acute infantile cardiomyopathy.
  • Further investigations revealed the infant also had mucopolysaccharidosis VI.
  • This highlights a potential, previously under-recognized association.

Findings:

  • The clinical presentation of MPS VI can include cardiac manifestations mimicking cardiomyopathy.
  • Early recognition of MPS VI is crucial for appropriate management and genetic counseling.
  • This case underscores the importance of a broad differential diagnosis in pediatric cardiology.

Implications:

  • Healthcare providers should consider mucopolysaccharidoses in the differential diagnosis of infantile cardiomyopathy.
  • Expanding diagnostic criteria may improve early detection rates for MPS VI.
  • Further research is warranted to elucidate the pathophysiology linking MPS VI and cardiomyopathy.

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