Anderson Robert H, Spicer Diane E, Giroud Jorge M, Mohun Timothy J
1 Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
2 All Children's Hospital, The Congenital Heart Institute of Florida, Saint Petersburg/Tampa and the University of Florida, Gainesville, United States of America.
Cardiol Young. 2013 Dec;23(6):858-66. doi: 10.1017/S1047951113001686.
It is timely, in the 125th anniversary of the initial description by Fallot of the hearts most frequently seen in patients presenting with "la maladie bleu", that we revisit his descriptions, and discuss his findings in the light of ongoing controversies. Fallot described three hearts in his initial publication, and pointed to the same tetralogy of morphological features that we recognise today, namely, an interventricular communication, biventricular connection of the aorta, subpulmonary stenosis, and right ventricular hypertrophy. In one of the hearts, he noted that the aorta arose exclusively from the right ventricle. In other words, one of his initial cases exhibited double-outlet right ventricle. When we now compare findings in hearts with the features of the tetralogy, we can observe significant variations in the nature of the borders of the plane of deficient ventricular septation when viewed from the aspect of the right ventricle. We also find that this plane, usually described as the ventricular septal defect, is not the same as the geometric plane separating the cavities of the right and left ventricles. This means that the latter plane, the interventricular communication, is not necessarily the same as the ventricular septal defect. We are now able to provide further insights into these features by examining hearts prepared from developing mice. Additional molecular investigations will be required, however, to uncover the mechanisms responsible for producing the morphological changes underscoring tetralogy of Fallot.
在法洛首次描述“蓝色疾病”患者最常见的心脏情况的125周年之际，我们适时地回顾他的描述，并根据当前的争议来讨论他的发现。法洛在其最初的出版物中描述了三种心脏情况，并指出了我们如今所认识的相同的形态学特征四联症，即室间隔交通、主动脉的双心室连接、肺动脉瓣下狭窄和右心室肥厚。在其中一颗心脏中，他指出主动脉仅起源于右心室。换句话说，他最初的病例之一表现为右心室双出口。当我们现在比较具有四联症特征的心脏的发现时，从右心室的角度观察，我们可以看到室间隔缺损平面边界的性质存在显著差异。我们还发现，这个通常被描述为室间隔缺损的平面，与分隔左右心室腔的几何平面并不相同。这意味着后者，即室间隔交通，不一定与室间隔缺损相同。通过检查发育中小鼠制备的心脏，我们现在能够对这些特征提供进一步的见解。然而，还需要进行额外的分子研究，以揭示导致法洛四联症形态学变化的机制。
