Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
| Autor: | Zongqi Feng, Shenghua Liu, Jie Huang, Jian Huang, Shengshou Hu, Yingjie Wei, Yuanyuan Xie, Hongliang Zhang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent medicine.medical_treatment 030204 cardiovascular system & hematology Asymptomatic Sudden cardiac death Primary cardiomyopathy Young Adult 03 medical and health sciences 0302 clinical medicine Internal medicine Exome Sequencing Humans Medicine 030212 general & internal medicine Child Exome sequencing Heart transplantation Isolated Noncompaction of the Ventricular Myocardium business.industry Middle Aged medicine.disease Left ventricular noncompaction cardiomyopathy Phenotype Echocardiography Heart failure Cardiology Etiology RNA Female medicine.symptom Cardiology and Cardiovascular Medicine business |
| Zdroj: | International Journal of Cardiology. 302:117-123 |
| ISSN: | 0167-5273 |
| Popis: | Left ventricular noncompaction cardiomyopathy (LVNC) is a primary cardiomyopathy with an unclear aetiology. The clinical symptoms range from asymptomatic to heart failure, arrhythmias and sudden cardiac death. This study aimed to characterize the genetic features and clinical outcomes of LVNC who underwent heart transplantation (HTx) to reveal the potential genetic pathogenesis.We recruited 16 cases who underwent HTx in our hospital. Exome-sequencing was performed to reveal genetic background. Clinical information and histopathology features of patients were investigated. Gene expression profiling of tissue fibrosis were evaluated by quantitative PCR. The median age of patients was 21 years. Of the 16 patients, 14 harboured multiple gene variants involved in LVNC. Ten of the patients harboured biallelic variants and/or truncating variants. Young patients (18) with biallelic variants and/or truncating variants and lower LVEF (45%) at initial symptom deteriorated quickly. Except for noncompaction myocardium, myocardial fibrosis was a remarkable pathological feature, and gene profiles related to immune inflammation and extracellular matrix remodelling were upregulated.This study showed that multiple pathologic variants were underlie genetic mechanism of LVNC who in high risks, suggesting that genetic screening should be applied to the diagnosis of LVNC. LVNC patient with multiple variants should be considered carefully follow-up. Genetics involved in the phenotype and cardiac fibrosis, and is the major causing for LVNC. |
| Databáze: | OpenAIRE |
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