Ciliary Genes Causing Transposition of the Great Arteries? Not Silly at All.

Ciliary Genes Causing Transposition of the Great Arteries? Not Silly at All.
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DOI:
10.1161/circresaha.120.316778
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发表时间:
2020-03
影响因子:
20.1
通讯作者:
B. London
B. London
中科院分区:
医学1区
文献类型:
--
作者:
B. London

文献摘要

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先天性心脏病(CHD)是由导致胚胎和胎儿心脏发育的分子和细胞事件的复杂序列中断引起的。CHD可以是紫绀型或非紫绀型,这取决于中断是否允许脱氧血液绕过肺部进入体循环。某些形式的CHD在出生后不久就可能在未经治疗的情况下致命,其他形式的CHD可能要到成年后才能被发现或引起问题,而且,其他形式的CHD可能在尸检时偶然发现。改进的医疗、介入和手术技术极大地提高了患有更恶性形式的患者的生存率,并产生了人手不足的美国内科医学委员会认可的成人先天性心脏病专科。
Congenital heart disease (CHD) results from disruption of the complex sequence of molecular and cellular events that lead to the development of the embryonic and fetal heart.1 CHD can be cyanotic or noncyanotic, depending on whether the disruption allows deoxygenated blood to bypass the lungs and enter the systemic circulation. Some forms of CHD are lethal shortly after birth without treatment, others may not be identified or cause problems until adulthood, and still, others may be noted incidentally at autopsy. Improved medical, interventional, and surgical techniques have greatly improved survival of patients harboring the more malignant forms and given birth to the undermanned American Board of Internal Medicine recognized specialty of adult congenital heart disease.2