Sales Ludmila De Oliveira Jaime, Gutierrez Paulo Sampaio, Siqueira Adailson Wagner D, Jatene Marcelo Biscegli, Azeka Estela
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Front Transplant. 2024 Dec 23;3:1431851. doi: 10.3389/frtra.2024.1431851. eCollection 2024.
Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle. FLNC variants have been associated with restrictive cardiomyopathy and non-compaction cardiomyopathies. The association of FLNC with a broad spectrum of cardiac phenotypes shows an important gap in knowledge. Therefore, a wide investigation is necessary to diagnose this pathology, including an anatomopathological study and genetic tests.
METHODS/RESULTS: The purpose of this study is to report about a patient who had restrictive cardiomyopathy due to mutation on Filamin C gene and was indicated for heart transplantation.
The etiology of cardiomyopathy is important for the clinical management of the patient and also for guiding families regarding genetic counseling and prevention of new cases in the family.
心肌病是一种影响心肌的疾病，可分为扩张型、限制型或肥厚型心肌病。在这些亚型中，限制型心肌病的特征是心室充盈受限，其罕见病因是由细丝蛋白C（FLNC）基因突变引起的疾病。细丝蛋白C是一种由FLNC基因编码的肌动蛋白结合蛋白，参与维持肌节稳定性，在横纹肌中表达。FLNC变异与限制型心肌病和心肌致密化不全心肌病有关。FLNC与广泛的心脏表型之间的关联显示出知识上的重要空白。因此，有必要进行广泛的调查以诊断这种疾病，包括解剖病理学研究和基因检测。
方法/结果：本研究的目的是报告一名因细丝蛋白C基因突变而患有限制型心肌病且被建议进行心脏移植的患者。
心肌病的病因对于患者的临床管理很重要，对于指导家庭进行遗传咨询和预防家庭中的新病例也很重要。
