# Personalized Diagnoses for Those Born with Congenitally Malformed Hearts

## TL;DR

This paper discusses how personalized diagnoses can improve outcomes for people born with congenitally malformed hearts by using detailed phenotypic definitions.

## Contribution

The paper highlights the potential of using updated international nomenclature to enable personalized diagnoses for congenital heart defects.

## Key findings

- Detailed phenotypic definitions now allow for personalized diagnoses in congenital heart malformations.
- Not all medical centers are utilizing these definitions to tailor treatments effectively.
- Four categories of heart malformations demonstrate the feasibility of personalized diagnoses.

## Abstract

Background/Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.