History of Our Understanding of the Causes of Congenital Heart Disease.
History of Our Understanding of the Causes of Congenital Heart Disease.
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DOI：
10.1161/circgenetics.115.001058
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发表时间：
2015-06
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影响因子：
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通讯作者：
Gelb BD
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作者：
Gelb BD
Maude Abbott是麦吉尔大学的著名病理学家，主要工作在20世纪的头几十年。她迷人的历史已被很好地记录下来，因此不会被广泛地重新访问。威廉·奥斯勒鼓励她重组麦吉尔病理博物馆。雅培重新发现了原来的霍姆斯心脏，导致她在1901年出版了关于CHD9的形式和奥斯勒随后的邀请，写一个关于CHD的章节，他的教科书现代医学。值得注意的是，皮科克还引用了福尔摩斯关于心脏的报告。5因为Abbott知道这一点，6我们可以假设她知道Peacock关于CHD因果关系的观点。在1908年出版的《奥斯勒的现代医学》中雅培的“先天性心脏病”一章中，6她试图解决有关CHD的一些紧迫问题，包括：缺陷的原因是什么？是发育性的还是因为宫内疾病？与Peacock一样，Abbott指出，先天性心脏病的主要原因是发育停滞。她指出，在冠心病患者中，包括神经认知问题在内的相关心外异常的频率大大增加。她还观察到CHD的家族复发最常发生在兄弟姐妹中，这使她得出结论，环境因素在起作用。雅培特别提到“在怀孕的最初几周对母亲产生的有害影响”，其中包括巨大的麻烦和恐惧。Abbott了解遗传学与CHD相关。她写道：“遗传，虽然不像其他异常（如多指）那样是心脏缺陷的一个明确或恒定的因素，但肯定也有一定的作用。”然后她引用了多代冠心病复发的家庭和冠心病伴多指的病例。像皮科克一样，雅培可能不知道孟德尔遗传学。孟德尔于1866年出版的这部巨著，直到1900年才被科学界所知，后来花了很长时间才渗透到医学思想中。因此，在本发明中，
Maude Abbott, the renowned pathologist at McGill University, worked primarily in the first decades of the 1900s. Her fascinating history has been well documented8 so will not be revisited extensively. She was encouraged by William Osler as she sought to reorganize the McGill pathological museum. Abbott rediscovered the original Holmes heart, resulting in her 1901 publication about that form of CHD9 and Osler’s subsequent invitation to write a chapter on CHD for his textbook Modern Medicine. 6 Of note, Peacock had also cited Holmes’ report of that heart. 5 Because Abbott knew that, 6 we can assume that she was aware of Peacock’s views on CHD causality. In Abbott’s chapter “Congenital cardiac disease” in Osler’s Modern Medicine, published in 1908, 6 she sought to address a few burning questions about CHD including: what is the cause of the defect? Is it developmental or because of intrauterine disease? Largely rejecting fetal diseases, such as acute endocarditis as causal, Abbott, like Peacock, pointed to arrest of development as the primary cause of CHD. She noted the vastly increased frequency of associated extracardiac anomalies, including neurocognitive issues, among those with CHD. She also observed that familial recurrence of CHD was most often in sibships, leading her to conclude that environmental factors were at play. Abbott specifically mentioned “baneful influences acting on the mother during the early weeks of pregnancy,” among which she included great trouble and fright. Abbott understood that genetics was relevant for CHD. She wrote “Heredity, although not so clear or constant a factor in cardiac defects as some other anomalies (eg, polydactylism), certainly bears some part,” and then she cited families with multigenerational recurrence of CHD and cases of CHD with polydactyly. Like Peacock, Abbott was probably unaware of Mendelian genetics. Mendel’s magnum opus, published in 1866, 7 was lost to the scientific community until 1900 and then took time to penetrate medical thinking. Thus,