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Dilated cardiomyopathy in two patients with xeroderma pigmentosum disease: a case report

Shokoufeh Hajsadeghi1, Maral Hejrati, Samar Moghadami

  • 1Department of Cardiology, Rasul-e-AkramHospital, Tehran University of Medical Sciences, Iran. hajsadeghi.shokoufeh@yahoo.com

Acta Medica Iranica
|February 24, 2012
PubMed

Insights

This study reports the first cases of dilated cardiomyopathy in two patients with Xeroderma pigmentosum (XP), a DNA repair disorder. Severe vitamin D deficiency was noted, suggesting a potential link to cardiac dysfunction in XP patients.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by deficient DNA repair, particularly after ultraviolet (UV) light exposure.
  • Patients with XP exhibit oxidative stress due to decreased catalase activity, an important antioxidant enzyme.

Observation:

  • This report details the first observed cases of dilated cardiomyopathy in two siblings diagnosed with Xeroderma pigmentosum.
  • Both affected individuals, a 26-year-old female and her younger brother, presented with severe vitamin D deficiency.

Findings:

  • Cardiac dysfunction in these XP patients may be linked to their severe vitamin D deficiency.
  • The potential role of chronic oxidative stress in the development of dilated cardiomyopathy in XP remains an open question.

Implications:

  • These findings highlight a potential association between Xeroderma pigmentosum, vitamin D deficiency, and dilated cardiomyopathy.
  • Further research is warranted to elucidate the mechanisms linking oxidative stress and cardiac involvement in XP.

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