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Primary antiphospholipid syndrome, hypertrophic non-obstructive cardiomyopathy and hypotelorism

Joerg Kellermair1, Juergen Kammler1, Peter Laubichler2

  • 1Department of Cardiology and Medical Intensive Care Medicine, Kepler University Hospital, Linz, Austria.

BMJ Case Reports
|April 7, 2016
PubMed

Insights

Antiphospholipid syndrome (APS) can cause heart problems. This report details a rare case of primary APS with hypertrophic cardiomyopathy and hypotelorism, a previously undocumented combination.

Area of Science:

  • Cardiology
  • Immunology
  • Genetics

Background:

  • Antiphospholipid syndrome (APS) is an autoimmune condition linked to blood clots.
  • Cardiac involvement in APS commonly includes valve issues, coronary artery disease, and dilated cardiomyopathy.
  • The genetic and phenotypic spectrum of APS is still being elucidated.

Observation:

  • A male patient with primary APS was observed.
  • The patient presented with hypertrophic non-obstructive cardiomyopathy.
  • Hypotelorism was also noted in the patient.

Findings:

  • This case represents the first reported instance of primary APS combined with hypertrophic non-obstructive cardiomyopathy and hypotelorism.
  • The co-occurrence of these conditions in APS is novel.

Implications:

  • This case expands the known cardiac manifestations of Antiphospholipid Syndrome.
  • Further research is warranted to understand the potential link between APS, hypertrophic cardiomyopathy, and hypotelorism.
  • This finding may influence diagnostic approaches and genetic counseling for APS patients.

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