Journal Article

Undetected Neuromuscular Disease in Patients after Heart Transplantation

Jelting, Yvonne, Bekele, Biniam Melese, Knierim, Jan, Hoerning, Selina, Spuler, Simone, Falk, Volkmar, Zaum, Ann-Kathrin, Rost, Simone, Gazzerro, Elisabetta, Schoenrath, Felix

2024

Overview

(1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority of CMPs have genetic causes, and the overlap between CMPs and inherited myopathies is well documented. However, the long-term outcome in skeletal muscle function and possibility of an undiagnosed underlying genetic cause of both a cardiac and skeletal pathology remain unknown. (2) Thirty-nine patients were assessed using open and standardized interviews on muscle function, a quality-of-life (EuroQol EQ-5D-3L) questionnaire, and a physical examination (Medical Research Council Muscle scale). Whole-exome sequencing was completed in three stages for those with skeletal muscle weakness. (3) Seven patients (17.9%) reported new-onset muscle weakness and motor limitations. Objective muscle weakness in the upper and lower extremities was seen in four patients. In three of them, exome sequencing revealed pathogenic/likely pathogenic variants in the genes encoding nexilin, myosin heavy chain, titin, and SPG7. (4) Our findings support a positive long-term outcome of skeletal muscle function in HTX patients. However, 10% of patients showed clinical signs of myopathy due to a possible genetic cause. The integration of genetic testing and standardized neurological assessment of motor function during the peri-HTX period should be considered.

• Publisher: MDPI AG
• Subject: Adult / Aged / Cardiac function / Cardiomyopathies - etiology / Cardiomyopathies - genetics / Cardiomyopathy / Connectin - genetics / Diseases / Exome Sequencing / Family medical history / Female / Genes / Genetic screening / Genetic testing / Germany / Heart / Heart failure / Heart Failure - etiology / Heart Failure - genetics / Heart Failure - surgery / Heart Transplantation - adverse effects / Heart transplants / Humans / Kidney diseases / Kidney transplants / Male / Medical research / Medicine, Experimental / Middle Aged / Muscle proteins / Muscle strength / Muscle Weakness - etiology / Muscle Weakness - genetics / Muscle, Skeletal - pathology / Muscle, Skeletal - physiopathology / Muscles / Musculoskeletal system / Mutation / Myosin / Neuromuscular diseases / Neuromuscular Diseases - genetics / Patients / Proteins / Quality of Life / Transplantation / Walking