Kearns-Sayre Syndrome Requires Cardiac Mri And An Icd

    Josef Finsterer Affiliation


In a recent article by Krishna et al. published in the Indian Pacing Electrophysiol journal a 16yo Indian male with Kearns-Sayre syndrome (KSS) due to a single large- scale mtDNA deletion was presented [1]. He manifested phenotypically in the skeletal muscles as easy fatigability, ptosis, external ophthalmoplegia, and lactic acidosis, in the eyes as pigmentary retinopathy, in the heart as AV-block III requiring a pacemaker at age 14y, in the endocrine system as short stature, and in the gastrointestinal tract as recurrent vomiting [1]. The patient died suddenly at age 16y without undergoing autopsy [1]. We have the following comments and concerns.