Belharty Najlaa, Siagh Selma, El Ghali Tanae, Doghmi Nawal, Cherti Mohamed
Department of Cardiology B, Ibn Sina Hospital, Mohammed V University, Rabat, MAR.
Cureus. 2023 Aug 25;15(8):e44117. doi: 10.7759/cureus.44117. eCollection 2023 Aug.
Marfan syndrome (MFS) is a heritable connective tissue disorder that is caused by a mutation of the gene. It is characterized by cardiovascular, skeletal, and ocular manifestations, with thoracic aortic aneurysms being the main cardiovascular complication. Unconventionally, MFS can present with left ventricular noncompaction (LVNC), which introduces a supplementary aspect of cardiac dysfunction. We herein report the case of a 42-year-old male with MFS who presented with congestive heart failure and cardiogenic shock. His transthoracic echocardiography revealed a giant aortic root aneurysm, causing severe aortic regurgitation and dilated cardiomyopathy, along with LVNC. This case provides a brief overview of this rare medical condition, particularly the natural history of ascending thoracic aortic aneurysm, which is considered a silent complication and the most life-threatening one, combined with LVNC that correspondingly impairs the heart.
马凡综合征（MFS）是一种由基因 突变引起的遗传性结缔组织疾病。其特征为心血管、骨骼和眼部表现，胸主动脉瘤是主要的心血管并发症。不同寻常的是，MFS可表现为左心室心肌致密化不全（LVNC），这又引入了心脏功能障碍的一个补充方面。我们在此报告一例42岁患有MFS的男性，其出现充血性心力衰竭和心源性休克。他的经胸超声心动图显示巨大的主动脉根部瘤，导致严重主动脉瓣反流和扩张型心肌病，以及LVNC。本病例简要概述了这种罕见的病症，特别是升主动脉瘤的自然病程，其被认为是一种隐匿性并发症且是最危及生命的并发症，同时伴有相应损害心脏的LVNC。
