DES mutation associated with cardiac hypertrophy and alternating bundle branch block
| Autor: | Feng Zhu, Yanyi Yao, Zhihua Qiu, Kai Huang, Ru Chen, Jing Wang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Heart block Cardiomyopathy Case Report 030204 cardiovascular system & hematology Gene mutation Desmin 03 medical and health sciences 0302 clinical medicine Cardiac conduction medicine Cardiac conduction defect 030212 general & internal medicine Myopathy Bundle branch block business.industry Left bundle branch block medicine.disease Alternating bundle branch block Cardiac hypertrophy Mutation medicine.symptom Cardiology and Cardiovascular Medicine business |
| Zdroj: | HeartRhythm Case Reports |
| ISSN: | 2214-0271 |
| Popis: | Desmin is an important intermediate filament protein involved in extrasarcomeric cytoskeleton and cellular function. By interacting with its binding partners, desmin as well as other cytoskeletal proteins form a complex intracellular network that connects cell membrane, nuclear envelope, and organelles.1 The 3-dimensional structure provides an important basis for cellular mechanics, organelle transportation, and intracellular signaling.2 The DES gene, which is located in chromosome 2q35 and mainly expresses in muscle tissues, plays vital roles in myocyte development, degeneration, and cellular function.3 Various DES mutations were found to be related with myopathies. DES mutation carriers can present neurological signs, cardiologic signs, myopathy, or a combination of these manifestations.3,4 According to a meta-analysis enrolling 159 DES mutation carriers with 40 different mutations,5 74% of carriers presented neurological signs and cardiologic signs; 70% of carriers had myopathy and one-third of them had normal serum creatine kinase level; 50% of carriers had cardiomyopathy; and 60% had cardiac conduction disease or arrhythmia, among which atrioventricular block (AVB) was quite common. Isolated left bundle branch block progressing to complete heart block and asystole has been found in pediatric patients with DES mutation,6 but alternating bundle branch block (ABBB) remained scarcely reported. Here we report a 25-year-old male patient diagnosed with mild left ventricular hypertrophy and ABBB that finally progressed to AVB, caused by a de novo DES gene mutation. Key Teaching Points • We uncover an unpublished desmin variation in patients with hypertrophic cardiomyopathy and rare alternating bundle branch block. • Whole exome sequencing was an effective tool in clinical work to uncover potential disease. • Transcriptome sequencing should be valued because it helps to identify molecular mechanisms, especially in genetic diseases. |
| Databáze: | OpenAIRE |
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