背景:马凡氏综合征(MFS)已被定义为影响各种系统,如肌肉骨骼,轨道,和心血管系统。新生儿MFS被认为是罕见的,最严重的MFS以快速进行性房室瓣功能障碍为特征。经常导致儿童早期因充血性心力衰竭而死亡。
方法:新生儿MFS和严重心脏受累。他表现出各种严重的临床特征,例如蛛形纲,Camptodactyly,肘和膝关节挛缩,老年面部外观,深沉降下倾斜的睑裂,发育不良的耳软骨,下垂的嘴巴,短头畸形,和扁桃体异位。
方法:遗传分析揭示了纤丝蛋白-1基因内含子32中核苷酸3964(c.3964+1G>T)的新突变。如先前报道的,该突变被鉴定为在原纤维蛋白-1外显子24至32的所谓的新生儿区域中。
方法:根据严重的二尖瓣反流和主动脉瓣反流,对患者进行药物治疗以改善低心输出量。后负荷减少,完全镇静,并尝试使用利尿剂改善少尿和心力衰竭。
结果:尽管有医疗管理,主动脉瓣反流,二尖瓣反流,肺动脉高压,心脏收缩力变差了.手术治疗对于延长患者的生命至关重要,然而,考虑到疾病的严重进展,家庭决定继续姑息治疗,而不是手术治疗。出生几个月后,他表现为快速进行性主动脉瓣反流,二尖瓣反流,充血性心力衰竭导致死亡.
结论:这篇综述证明了新生儿MFS突变的突出特征,这将有助于识别新的新生儿MFS变异,对于理解基因型-表型相关性以及使用新生儿MFS的管理和咨询计划很有价值.
BACKGROUND: Marfan syndrome (MFS) has been defined as a genetic disorder that affects various systems such as the musculoskeletal, orbital, and cardiovascular systems. Neonatal MFS is considered rare and the most severe form of MFS is characterized by rapidly progressive atrioventricular valve dysfunction, often leading to death during early childhood due to congestive heart failure.
METHODS: A newborn with neonatal MFS and severe cardiac involvement. He presented various severe clinical features such as arachnodactyly, camptodactyly, elbow and knee joint contracture, senile facial appearance, and deep settling with down-slanting palpebral fissure, hypoplastic ear cartilage, sagging mouth, brachycephaly, and ectopia lentis.
METHODS: Genetic analysis revealed a novel mutation at nucleotide 3964 (c.3964 + 1 G > T) in intron 32 of the fibrillin-1 gene. This mutation is identified to be in the so-called neonatal region of fibrillin-1 exon 24 to 32, as reported previously.
METHODS: The patient was managed medically for improving the low cardiac output according to severe mitral regurgitation and aortic regurgitation. Afterload reduction, full sedation, and use of diuretic were attempted to improve the oliguria and heart failure.
RESULTS: Despite the medical management, aortic regurgitation, mitral regurgitation, pulmonary hypertension, and cardiac contractility got worse. Surgical treatment is essential to prolong the patient\'s life, however, considerations for the grave progression of the disease make families decide to continue palliative care instead of surgical treatment. A few months after birth, he presented with rapidly progressive aortic regurgitation, mitral regurgitation, and congestive heart failure leading to death.
CONCLUSIONS: This review demonstrated the prominent characteristics of neonatal MFS mutations, it would be helpful for the recognition of novel neonatal MFS variants and valuable for the understanding of the genotype-phenotype correlations and using the plans for managements and counseling in neonatal MFS.