Bonnet D, Sidi D
Service de cardiologie pédiatrique, hôpital Necker-Enfants-malades, Paris, France.
Arch Pediatr. 1999 Jul;6(7):777-80. doi: 10.1016/s0929-693x(99)80364-9.
In recent years, close collaborations have been established between pediatric cardiology, medical and molecular genetics, fetal cardiology and pediatric radiology. As a consequence, several congenital heart defects and syndromes including cardiovascular malformations have been related to microdeletions such as 22q11 in Di George syndrome and 7q in Williams syndrome. Prenatal detection of heart malformations has become a crucial part of the management of life-threatening malformations of the neonate such as the transposition of the great arteries or the coarctation of the aorta. We are at the dawn of a new era of the development of preventive cardiovascular medicine starting from childhood thanks to new techniques of echo-tracking. Finally, three-dimensional reconstruction of heart defects by using ultrasound, X-ray or MRI have dramatically improved the diagnosis and the therapeutic strategies of cardiac diseases.
近年来,小儿心脏病学、医学与分子遗传学、胎儿心脏病学以及小儿放射学之间已建立了密切合作。因此,包括心血管畸形在内的多种先天性心脏缺陷和综合征已与微缺失相关,如狄乔治综合征中的22q11微缺失以及威廉姆斯综合征中的7q微缺失。产前检测心脏畸形已成为新生儿危及生命的畸形(如大动脉转位或主动脉缩窄)管理的关键部分。借助新的回声跟踪技术,我们正处于从儿童期开始的预防性心血管医学发展新时代的开端。最后,利用超声、X射线或磁共振成像进行心脏缺陷的三维重建极大地改善了心脏病的诊断和治疗策略。