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Cardiac involvement in Coffin-Lowry syndrome
M M Massin1, M A Radermecker, A Verloes
1Division of Paediatric Cardiology, University of Liège, Belgium. Martial.Massin@chrcitadelle.be
Acta Paediatrica (Oslo, Norway : 1992)
|May 26, 1999
Summary
Coffin-Lowry syndrome can cause heart problems, including mitral valve issues and dilated cardiomyopathy. This case highlights a potential primary myocardial disorder linked to the syndrome.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, distinct facial features, and skeletal abnormalities.
- It is an X-linked recessive condition, primarily affecting males.
Observation:
- A single patient with Coffin-Lowry syndrome presented with recurrent congestive heart failure.
- The patient later developed mitral insufficiency due to annular dilation and congenital valve abnormalities.
- Left ventricular contractility did not adapt to worsening mitral insufficiency, and dysfunction persisted post-surgery.
Findings:
- The case demonstrates mitral valve malformation can occur in Coffin-Lowry syndrome.
- A potential primary myocardial disease, possibly dilated cardiomyopathy, is suggested.
- This cardiomyopathy may be secondary to mitral regurgitation or an intrinsic part of the syndrome.
Implications:
- Highlights the importance of cardiac screening in Coffin-Lowry syndrome patients.
- Suggests a potential link between Coffin-Lowry syndrome and primary myocardial disorders.
- Underscores the need for further research into the cardiac manifestations of Coffin-Lowry syndrome.