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Left ventricular noncompaction cardiomyopathy in association with trisomy 13
C J McMahon1, A C Chang, R H Pignatelli
1Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA. cmcmahon@bcm.tmc.edu
Insights
Left ventricular noncompaction (LVNC) is a rare cardiomyopathy. This case is the first to report LVNC in a child diagnosed with trisomy 13, expanding knowledge of this condition.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Left ventricular noncompaction (LVNC) is increasingly recognized as a distinct cardiomyopathy.
- Over 100 pediatric cases of LVNC have been documented.
- LVNC is often associated with genetic or metabolic disorders.
Observation:
- This report details a unique case of LVNC in a pediatric patient.
- The patient was diagnosed with trisomy 13.
Findings:
- This is the first documented instance of LVNC occurring in a child with trisomy 13.
- The findings suggest a potential link between trisomy 13 and LVNC development.
Implications:
- This case expands the known clinical spectrum of trisomy 13.
- It highlights the importance of considering LVNC in children with trisomy 13.
- Further research is warranted to understand the underlying mechanisms connecting trisomy 13 and LVNC.
Abstract:
In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.
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