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Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.
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.
Afiliación
  • Kovalchuk T; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Yakovleva E; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Fetisova S; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Vershinina T; World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Lebedeva V; Institute of Heart and Vessels, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Lyubimtseva T; Institute of Heart and Vessels, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Lebedev D; Institute of Heart and Vessels, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Mitrofanova L; Pathology Unit, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Ryzhkov A; Radiology Unit, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Sokolnikova P; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Fomicheva Y; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Kozyreva A; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Zhuk S; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Smolina N; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Zlotina A; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Pervunina T; Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Kostareva A; Institute of Molecular biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, Russia.
  • Vasichkina E; Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Solna, Sweden.
Front Cardiovasc Med ; 8: 668231, 2021.
Article en En | MEDLINE | ID: mdl-34026875
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Cardiovasc Med Año: 2021 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Cardiovasc Med Año: 2021 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza