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Left-ventricular noncompaction in an infant with trisomy 21
Mandar B Patil1, Sunita M Patil
1Division of Pediatric Cardiology, Department of Pediatrics, Dr. D. Y. Patil Medical College, Kolhapur, Maharashtra, India. drmandarpatil@hotmail.com
Pediatric Cardiology
|May 5, 2012
Summary
Left-ventricular noncompaction (LVNC), a rare heart muscle disease, was observed in an infant with trisomy 21. This case highlights a newly identified association between LVNC and Down syndrome.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Left-ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy.
- LVNC is increasingly recognized and often associated with genetic syndromes.
Observation:
- This report details the first documented case of an infant presenting with LVNC.
- The infant was also diagnosed with trisomy 21 (Down syndrome).
Findings:
- A novel association between left-ventricular noncompaction and trisomy 21 is described.
- This finding expands the known spectrum of genetic conditions linked to LVNC.
Implications:
- This case suggests trisomy 21 should be considered in the differential diagnosis of unexplained LVNC in infants.
- Further research is warranted to explore the genetic mechanisms underlying this association and its clinical impact.
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