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Infantile Dilated Cardiomyopathy in Alström Syndrome.

Julien Van Huffel1, Emilien Derycke2, Thierry Detaille2

  • 1Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.

Cureus
|January 1, 2025
PubMed
Summary

Alström syndrome (ALMS) can present as dilated cardiomyopathy in infants. Genetic testing for the ALMS1 gene is crucial for diagnosing this rare condition and guiding treatment, including novel surgical approaches.

Keywords:
alström syndromecardiomyopathydilatedgenetic testinginfantsrare disease

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Area of Science:

  • Pediatric Cardiology
  • Medical Genetics
  • Rare Diseases

Background:

  • Alström syndrome (ALMS) is a rare autosomal recessive disorder.
  • It is a multisystem condition with diverse clinical manifestations.
  • Cardiomyopathy is a known feature of ALMS.

Observation:

  • Two infants presented with end-stage dilated cardiomyopathy as the primary symptom of ALMS.
  • The infants were aged two and five months.
  • This presentation occurred before other typical ALMS features were apparent.

Findings:

  • These cases underscore the significance of ALMS in the differential diagnosis of infantile dilated cardiomyopathy.
  • Genetic testing of the ALMS1 gene is essential for identifying ALMS.
  • A review of cardiac manifestations in ALMS is provided.

Implications:

  • Early diagnosis of ALMS through genetic testing can lead to timely intervention.
  • This study highlights the potential for ALMS to initially manifest solely as cardiomyopathy.
  • The successful surgical pulmonary artery banding in an infant with ALMS is reported, suggesting potential therapeutic avenues.