Kosin Med J.  2017 Jun;32(1):133-138. 10.7180/kmj.2017.32.1.133.

Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block

• Park EH
• Her SH
• Ha MA
• Kim HS
• Jang JH

• KMID: 2384843
• DOI: http://doi.org/10.7180/kmj.2017.32.1.133

Abstract

Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder associated with progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and complete heart block. KSS can lead to a risk of sudden death because of the potential progression of conduction abnormalities such as right or left bundle branch block or complete atrioventricular (AV) block. Here we describe the case of a KSS patient with type I diabetes who experienced syncope in the presence of complete AV block, confirmed by muscular biopsy.

Keyword

Complete AV block; Kearns-Sayre syndrome; Permanent pacemaker

MeSH Terms

Atrioventricular Block*
Biopsy
Bundle-Branch Block
Death, Sudden
Heart Block
Humans
Kearns-Sayre Syndrome*
Mitochondrial Diseases
Ophthalmoplegia, Chronic Progressive External
Retina
Syncope

Figure

• 

  Fig. 1 ECG revealed complete atrioventricular block with a wide QRS (150 ms) and ventricular rhythm of 34 beats per minute (bpm) (A), normal finding at 9 years old (B), and pacemaker rhythm(DDDR type). (C).

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  Fig. 2 Ophthalmoscopy of the fundus showed atypical retinal pigmentary degeneration (salt and pepper retinitis) (red arrow).

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  Fig. 3 Light and electron microscopic examination of the right thigh muscle Modified trichrome stain revealed no diagnostic abnormalities such as ragged red fibers, similar to other enzyme histochemical and immunohistochemical stains (A, LM finding), but showed muscle cells with subsarcolemmal collection of mitochondria, many of them containing crystalline inclusions (red arrow), electron microscopically consistent with mitochondrial myopathy (B, EM finding).

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