Key result
Deletion 1p36 syndrome presenting with dilated cardiomyopathy and localized noncompaction was characterized for the first time using microscopic, gross, and echocardiographic findings.
This report provides the first microscopic description of dilated cardiomyopathy and ventricular noncompaction associated with deletion 1p36 syndrome.
May prompt genetic evaluation in pediatric cardiomyopathy cases; leaves open generalizability and clinical impact pending larger series.
Dilated cardiomyopathy and ventricular noncompaction have been reported in association with deletion 1p36 syndrome. Previous descriptions include echocardiographic and/or gross pathologic descriptions. There are no previous reports of microscopic findings. We report a case with descriptions of echocardiographic, gross pathologic, and microscopic findings.
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Pearce et al. (2011) studied this question. Deletion 1p36 syndrome presenting with dilated cardiomyopathy and localized noncompaction was characterized for the first time using microscopic, gross, and echocardiographic findings.
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