Crucean Adrian C, Spicer Diane E, Tretter Justin T, Loomba Rohit, Anderson Robert H
Department of Paediatric Cardiac Surgery, Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK.
Heart Institute, Johns Hopkins All Children's Hospital, St Petersburg, FL 33701, USA.
J Pers Med. 2025 Mar 4;15(3):102. doi: 10.3390/jpm15030102.
: It is increasingly realized that the advances in diagnosis and treatment for those born with congenitally malformed hearts have now resulted in avoidance of morbidity being equally as important as avoiding postoperative mortality. Detailed personalized diagnoses will now be key to achieve such improvements. : We have reviewed our own experience in diagnosing major phenotypic variations on selected congenital cardiac malformations, showing that the ability to personalize the findings is at hand, although not always to date universally employed. : We have chosen four categories to illustrate how the definitions now provided by the International Nomenclature Society, and incorporated in the 11th iteration of the International Classification of Disease, make it possible to provide personalized diagnoses. The lesions chosen for review are the arrangement of the atrial appendages, the lesions permitting interatrial shunting, the options in the setting of deficient ventricular septation, and the abnormal morphology of the aortic root. We show that not all centers, as yet, are taking advances of these opportunities at hand to tailor the chosen treatments. : Detailed phenotypic definitions have now been provided for all the major congenital cardiac malformations. Use of these definitions should now provide personalized medicine for all those born with malformed hearts. As yet, the definitions are not used to their full effect.
人们越来越意识到，对于先天性心脏畸形患者，诊断和治疗方面的进展如今已使避免发病与避免术后死亡同样重要。详细的个性化诊断将成为实现此类改善的关键。我们回顾了自身在诊断特定先天性心脏畸形主要表型变异方面的经验，结果表明，实现结果个性化的能力已然具备，尽管迄今为止并非总是得到普遍应用。我们选取了四类情况来说明，国际命名协会目前给出并纳入《国际疾病分类》第11版的定义如何能够实现个性化诊断。选取用于回顾的病变包括心耳的排列、允许心房分流的病变、室间隔缺损情况下的选择以及主动脉根部的异常形态。我们发现，目前并非所有中心都在利用这些现成的机会来调整所选治疗方案。现在已为所有主要先天性心脏畸形提供了详细的表型定义。使用这些定义应为所有先天性心脏畸形患者提供个性化医疗。然而，这些定义尚未得到充分利用。
