Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings
A. J. Stoessl, A. F. Hahn, D. Malott, D. T. Jones and M. D. Silver
We describe the clinical features and autopsy findings of an adult patient
who had nemaline myopathy and an associated progressive cardiomyopathy. The
spinal cord and the results of morphometric analysis of multiple peripheral
nerves were normal. There was probable intrafusal fiber involvement, in
addition to the typical histopathologic features of extrafusal fibers.
Cardiac dysfunction was a prominent clinical and autopsy feature, but it
has been infrequently recognized in this entity. Our findings suggest that
there is a poor correlation between clinical and pathologic features in
this disorder, and they support the need for careful cardiac evaluation of
affected patients. Furthermore, the constellation of features favors a
myopathic basis for the disease, in contradistinction to some previously
expressed views.
