Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report

BACKGROUND Kearns-Sayre syndrome (KSS) is a rare genetic, mitochondrial disorder characterized by a triad of chronic progressive external ophthalmoplegia, pigmentary retina degeneration, and cardiac conduction disorders, with onset before the age of 20 years. The disease can also manifest as several cardiovascular (CV) disorders, such as conduction disorders or dilated cardiomyopathy, along with neuromuscular and endocrinological complications. CASE REPORT A 46-year-old man diagnosed with KSS was admitted to the Institute of Heart Diseases in the qualification process for heart transplantation (Htx). The patient's medical history began with a diagnosis of third-degree atrioventricular block, treated with pacemaker (PM) implantation at age 25. However, due to progressing left ventricle (LV) function deterioration, PM was upgraded to cardiac resynchronization therapy with defibrillator 10 years later. In the year before the admission, he had undergone 2 hospitalizations caused by acute decompensations of heart failure (ADHF). Upon admission, physical examination revealed features of congestion. Transthoracic echocardiography showed an enlarged LV with global hypokinesia, reduced ejection fraction, and right ventricle dysfunction. Due to the neurological complications and poor functional condition, the Heart Team qualified him for conservative treatment. The next hospitalization due to ADHF ended in the patient's death. CONCLUSIONS CV disorders are an important aspect of treatment of KSS patients. Our patient was referred with excessively developed complications, so he could not benefit from Htx or mechanical circulatory support. This case highlights the importance of early diagnosis and monitoring of KSS patients before the full development of complications, including HF.