Las mutaciones missense en el dominio ROD2 de la filamina C muestran un fenotipo con miocardiopatía restrictiva/hipertrófica y miocardio en dientes de sierra

Introduction and objectivesMissense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain.MethodsWe recruited 21 unrelated families genetically evaluated because of hypertrophic cardiomyopathy (HCM)/restrictive cardiomyopathy (RCM) phenotype carrying rare missense variants in the ROD2 domain of FLNC (FLNC-mRod2). Carriers underwent advanced cardiac imaging and genetic cascade screening. Myocardial tissue from 3 explanted hearts of a missense FLNC carrier was histologically analyzed and compared with an FLNC-truncating variant heart sample and a healthy control. Plasmids independently containing 3 FLNC missense variants were transfected and analyzed using confocal microscopy.ResultsEleven families (52%) with 20 assessed individuals (37 [23.7-52.7]) years showed 15 cases with a cardiac phenotype consisting of an overlap of HCM-RCM and left ventricular hypertrabeculation (saw-tooth appearance). During a median follow-up of 6.49 years, they presented with advanced heart failure: 16 (80%) diastolic dysfunction, 3 heart transplants, 3 heart failure deaths) and absence of cardiac conduction disturbances or skeletal myopathy. A total of 6 families had moderate genotype-phenotype segregation, and the remaining were de novo variants. Differential extracellular matrix remodeling and FLNC distribution among cardiomyocytes were confirmed on histology. HT1080 and H9c2 cells did not reveal cytoplasmic aggregation of mutant FLNC.ConclusionsFLNC-mRod2 variants show a high prevalence of an overlapped phenotype comprising RCM, HCM and deep hypertrabeculation with saw-tooth appearance and distinctive cardiac histopathological remodeling.Full English text available from:www.revespcardiol.org/en     

新型冠状病毒感染相关心肌损伤、心肌炎和感染后状态管理专家共识（第二版）

新型冠状病毒感染（COVID-19）已被证实可累及全身多个系统，其中心血管系统受累很常见。为帮助临床医师合理诊治COVID-19相关心血管问题，共识组建议：（1）对于因COVID-19住院或伴有心脏相关症状的患者，应常规检测心肌肌钙蛋白，以评估心肌损伤，判断有无心脏并发症；非心脏原因所致心肌损伤的患者预后较差；（2）COVID-19相关急性心肌炎较为罕见，对怀疑心肌炎的患者应根据危险分层进行诊治；（3）COVID-19可增加心血管事件风险，所有感染者应更加严格遵循健康生活方式，接受规范的心血管疾病一级或二级预防；（4）COVID-19后3个月时有持续心脏相关症状或新发相关症状，且至少持续2个月，但心血管相关检查未见异常，可考虑为“COVID-19后状态”，此类患者应以康复治疗为主。