Fisher D, Dipietro A, Murdison K A, Lemieux C A
Department of Pediatric Cardiology, Georgia Health Sciences University, 1120 15th St. BA-800W, Augusta, GA 30912, USA.
Pediatr Cardiol. 2013 Mar;34(3):733-5. doi: 10.1007/s00246-012-0334-4. Epub 2012 May 6.
Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. Affected infants display multiple dysmorphic features as well as skeletal, ocular, pulmonary, cardiac, renal, and genitourinary abnormalities. All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the echocardiographic findings and the congenital heart defects associated with the third case of molecularly confirmed full monosomy 21 in the literature. The cardiac defects included a mildly hypoplastic and hypertrophied left ventricle, a large ostium secundum atrial septal defect, a small anterior muscular ventricular septal defect, an interrupted inferior vena cava with azygos continuation, a parachute mitral valve, a bicuspid aortic valve, and a tortuous descending aorta. It also is the first description of a left pulmonary artery aneurysm and decreased left ventricular function as a component in the spectrum of defects found in full monosomy 21.
21号染色体单体是一种罕见的染色体异常，文献中仅报道过9例。受影响的婴儿表现出多种畸形特征以及骨骼、眼部、肺部、心脏、肾脏和泌尿生殖系统异常。除21号染色体单体外，所有单体均是致死性的，但并非所有21号染色体单体胎儿都能足月存活。本报告描述了文献中第三例经分子学确诊的完全性21号染色体单体相关的超声心动图表现及先天性心脏缺陷。心脏缺陷包括轻度发育不全和肥厚的左心室、大型继发孔房间隔缺损、小型前部肌部室间隔缺损、下腔静脉中断伴奇静脉延续、降落伞样二尖瓣、二叶式主动脉瓣以及迂曲的降主动脉。这也是首次描述左肺动脉瘤和左心室功能降低作为完全性21号染色体单体所发现的一系列缺陷的组成部分。
