A NOVEL DE NOVO MUTATION IN LAMIN A7C GENE IN EMERY DREIFUSS MUSCULAR DYSTROPHY PATIENT WITH ATRIAL STANDSTILL: A CASE REPORT
M. Affani, C. Achmad, A. Zada, A. Hidayatullah, M. Iqbal, E. Martanto, A. Purnomowati, T.M. Aprami
1. Department of Cardiology and Vascular Medicine, Universitas Padjadjaran, Dr. Hasan Sadikin Hospital, Bandung, Indonesia; 2. Department of Biochemistry and Molecular Biology Medical Faculty - Universitas Padjadjaran , Bandung, Indonesia
Introduction: Emery Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder, characterized by early contractures, slowly progressive muscle wasting and cardiac involvement. Atrial standstill is a less common cardiac complication. We present a 26 year old female patient with contracture of elbow, heel, pelvic, and muscle wasting. She was admitted to hospital due to an episode of syncope with history of presyncopal states.
Methods: We evaluated a patient with EDMD and history of syncope accompanied by junctional rhythm. Dual chamber permanent pacemaker was implanted, but the atrial could not be paced nor sensed. Further genetic testing was performed to the patient and her parents.
Results: The mode of the pace maker was changed into VVIR due to atrial standstill. Subsequent genomic sequencing revealed a novel de novo heterozygous missense mutation (NM_170707.3:c.122G>T,p.Arg41Leu) in exon 1 of Lamin A/C gene, which is found to be pathogenic.
Conclusions: We found a novel pathogenic de novo mutation in exon1 of Lamin A/C gene in EDMD patient with atrial standstill. Further evaluation is needed to determine the genotype-phenotype correlation in this patient.
