Lin A E, Chin A J
Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania.
Pediatr Cardiol. 1990 Oct;11(4):195-8. doi: 10.1007/BF02238366.
Seven patients (four previously cited and three new cases) with absent aortic valve cusps (leaflets), a rare and underrecognized complex congenital heart defect, are discussed. All patients were male, six full-term and one premature with nonimmunologic hydrops. None underwent operation; all died within the first week of life from low cardiac output and hypoxemia. In most instances, the only remnant of the aortic valve was a nonobstructive fibrous ridge; occasionally, it was accompanied by rudimentary leaflets or sinuses of Valsalva. Absent aortic valve was associated with other significant structural malformations in all instances, including atrioventricular valve atresia, hypoplasia or dysplasia, less commonly double outlet right ventricle, abnormal pulmonary venous connection, or left ventricular endomyocardial abnormalities. Recognition of this unusual lesion is important since it is associated with other complex malformations, causes hypoxemia (for which early positive pressure ventilation is indicated), and could be possibly palliated using the right ventricle as the systemic ventricle.
本文讨论了7例主动脉瓣叶缺如患者（4例先前已报道，3例新病例），这是一种罕见且未得到充分认识的复杂先天性心脏缺陷。所有患者均为男性，6例足月出生，1例早产，伴有非免疫性水肿。所有患者均未接受手术，均在出生后第一周内因低心输出量和低氧血症死亡。在大多数情况下，主动脉瓣的唯一残余部分是无梗阻的纤维嵴；偶尔，它伴有发育不全的瓣叶或主动脉窦。所有病例中，主动脉瓣缺如均与其他严重的结构畸形相关，包括房室瓣闭锁、发育不全或发育异常，较少见的有右心室双出口、肺静脉连接异常或左心室心内膜异常。认识到这种不寻常的病变很重要，因为它与其他复杂畸形相关，会导致低氧血症（对此应早期进行正压通气），并且有可能通过将右心室作为体循环心室来进行姑息治疗。
