AUTHOR=Kovalchuk Tatiana , Yakovleva Elena , Fetisova Svetlana , Vershinina Tatiana , Lebedeva Viktoriya , Lyubimtseva Tamara , Lebedev Dmitriy , Mitrofanova Lubov , Ryzhkov Anton , Sokolnikova Polina , Fomicheva Yuliya , Kozyreva Alexandra , Zhuk Sergey , Smolina Natalia , Zlotina Anna , Pervunina Tatiana , Kostareva Anna , Vasichkina Elena TITLE=Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children JOURNAL=Frontiers in Cardiovascular Medicine VOLUME=8 YEAR=2021 URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2021.668231 DOI=10.3389/fcvm.2021.668231 ISSN=2297-055X ABSTRACT=

Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.