Cardiovascular Pathology ( IF 2.3 ) Pub Date : 2021-11-06 , DOI: 10.1016/j.carpath.2021.107395 Sip Wijchers 1 , Jan H von der Thüsen 2 , Jan Lukas Robertus 3 , Kadir Caliskan 1
Noncompaction cardiomyopathy is a well-known clinical entity, whereas phospholamban gene mutation is a relatively recently known mutation with phenotypes as arrhythmogenic cardiomyopathy and dilated cardiomyopathy. We report the case of a 15-year-old girl that presents with rapid progressive heart failure based on a noncompaction cardiomyopathy as confirmed through cardiovascular imaging. As a result of her progressive heart failure 22 months later she received a heart transplant. Genetic testing showed a phospholamban gene mutation. We present cardiovascular images together with macroscopic and microscopic anatomy. This case shows the importance of considering phospholamban gene mutation in a case of severe noncompaction cardiomyopathy.
中文翻译:
一个有两个面孔的病例:致密化不全或受磷蛋白心肌病?
致密化性心肌病是一种众所周知的临床疾病,而受磷蛋白基因突变是一种相对较新的突变,其表型为致心律失常性心肌病和扩张型心肌病。我们报告了一个 15 岁女孩的病例,该病例根据心血管成像证实的致密化不全心肌病出现快速进展性心力衰竭。22 个月后,由于进行性心力衰竭,她接受了心脏移植手术。基因检测显示受磷蛋白基因突变。我们将心血管图像与宏观和微观解剖结构一起呈现。该病例显示了在严重致密化不全心肌病病例中考虑受磷蛋白基因突变的重要性。