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Published on: December 7, 2013
Accelerated coronary atherosclerosis and H syndrome
Ravindranath K Shankarappa1, Rajiv Ananthakrishna, Ravi S Math
1Cardiology Department, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India.
BMJ Case Reports
|June 9, 2012
Summary
A child with H syndrome experienced early-onset heart disease, presenting with myocardial infarction and unstable angina. This case highlights a potential link between H syndrome and accelerated atherosclerosis in pediatric patients.
Area of Science:
- Cardiology
- Genodermatology
- Pediatrics
Background:
- Coronary artery disease (CAD) is uncommon in children, with juvenile onset often linked to inherited conditions.
- H syndrome is a rare autosomal recessive genodermatosis characterized by specific skin and systemic manifestations.
Observation:
- A 12-year-old boy with insulin-dependent diabetes mellitus presented with acute myocardial infarction.
- Clinical examination revealed cutaneous hyperpigmentation and hypertrichosis of the lower extremities, suggestive of H syndrome.
- The patient subsequently experienced unstable angina despite optimal medical management for CAD.
Findings:
- Mutation analysis confirmed H syndrome.
- The patient underwent successful intracoronary thrombolysis and percutaneous coronary intervention for his cardiac events.
- This case represents an unusual occurrence of accelerated atherosclerosis and early-onset CAD in a child with H syndrome.
Implications:
- H syndrome may be associated with an increased risk of accelerated atherosclerosis and early-onset cardiovascular events.
- Further research and identification of patients with H syndrome are needed to confirm this association.
- This case underscores the importance of considering systemic implications in rare genetic disorders.
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