Kearns-Sayre Syndrome

Patient is a 39 year old man with past medical history of Kearns-Sayre Syndrome diagnosed at 12 years of age that presented with complaints of exertional dyspnea and progressively decreasing exertional capacity. 

An echocardiogram was performed which revealed globally depressed left ventricular systolic function. The patient was without risk factors for cadiomyopathy, and an extensive work-up, including cardiac catheterization, was performed without a causative etiology found. Kearns-Sayre Syndrome has rarely been associated with an idiopathic cardiomyopathy with diffuse and focal interstitial fibrosis primarily of the subendocardium found by histopathological examination . 

Cardiac magnetic resonance imaging was performed to evaluate for fibrosis and infiltrative disease. The patient was imaged in multiple tomographic planes utilizing dynamic, T1 and T2 dark blood, perfusion and delayed hyper-enhancement sequences.
         
 

A. Short axis view with T1 dark blood imaging

B. Long axis view with T1 dark blood imaging

C. Short axis view with delayed enhancement imaging

D. Long axis view with delayed enhancement imaging.

Findings

Contrast and non-contrast imaging revealed the previously noted severely depressed systolic function and biventricular dilatation without evidence of infiltrative disease or fibrosis.

Discussion

Kearns-Sayre Syndrome is a mitochondrial myopathy that is characterized by progressive ophthalmoplegia, retinal abnormalities, ptosis, and cardiac conduction defects. It is caused by a mitochondrial DNA rearrangement mutation. There have been rare cases associated with progressive cardiomyopathy for which endomyocardial biopsy has previously shown non-specific interstitial fibrosis primarily of the subendocardium.

Our study did not reveal magnetic resonance imaging evidence of the previously noted findings of interstitial fibrosis nor infiltrative disease in this patient with Kearns-Sayre syndrome associated cardiomyopathy.

Case by  David J. Ternes D.O., Mount Clemens Regional Medical Center, Mount Clemens, MI

References:
Channer KS, Cardiomyopathy in the Kearns-Sayre syndrome. Br Heart J 1988; 59: 486-90

Chinnery PF, Myocardial Disorders Overview. NCBI Bookshelf ID:  NBK1224 PMID: 20301403

Edelman RR, Contrast-enhanced MR imaging of the heart: overview of the literature. Radiology 2004; 232:653-68

Moon JC, Myocardial fibrosis in glycogen storage disease type III.  Circulation 2003; 107:e47