• Jeong-Sook Seo.
• Division of Cardiology, Department of Internal Medicine, Busan Paik Hospital, Inje University, Busan, South Korea.
• Medicine (Baltimore). 2024 Mar 8; 103 (10): e37447e37447.

RationaleMaternally inherited diabetes and deafness (MIDD) is a rare genetic disorder arising from mitochondrial DNA mutations, characterized by a combination of diabetes mellitus and sensorineural deafness. It is known that MIDD patients with cardiomyopathy have a poor prognosis, but there are no established guidelines for the diagnosis and follow-up of cardiomyopathy in MIDD patients.Patient ConcernsPatient 1 was a 48-year-old woman who visited the hospital with cardiomegaly and had been taking oral hypoglycemic agents for 8 years. Patient 2 was a 21-year-old man, the son of patient 1, who visited the hospital for genetic screening. Patient 2 was also diagnosed diabetes mellitus 2 years ago.DiagnosisPatient 1 was found to have restrictive cardiomyopathy on echocardiography and underwent endomyocardial biopsy and genetic testing to determine the etiology. The m.3243A>G mutation was confirmed and she was diagnosed with MIDD accompanied with diabetes and hearing loss. Additionally, patient 2 had m.3243 A>G mutation and was diagnosed with MIDD due to diabetes and hearing loss.InterventionsBecause MIDD does not have a specific treatment, patient 1 took ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment for diabetes control and heart failure. Patient 2 was taking ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with treatment for diabetes.OutcomesShe subsequently underwent routine transthoracic echocardiography, and a progressive decline in global longitudinal strain (GLS) was first observed, followed by a worsening of the patient's clinical situation. Patient 2 had concentric remodeling and decreased GLS. On periodic echocardiography, GLS decreased at a very slow rate, and the patient's clinical course was stable.LessonsThe findings of this report contribute to the understanding of the clinical course of MIDD-associated cardiomyopathy and highlight the potential of GLS as a sensitive marker for disease progression.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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