Report of Facing Heterotaxy Together 2024: A Virtual, Multidisciplinary Scientific Conference

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Cardiology

Background:

• Heterotaxy is a rare congenital condition characterized by abnormal left-right asymmetry of visceral organs.
• It presents with diverse morphological and functional deficits across multiple organ systems, leading to significant morbidity and mortality.
• Current challenges include inconsistent definitions and lack of standardized multidisciplinary care guidelines.

Purpose of the Study:

• To address the need for improved heterotaxy research and clinical care.
• To foster collaboration among clinicians, scientists, patients, and families.
• To establish networks for advancing knowledge and best practices in heterotaxy management.

Main Methods:

• A virtual scientific conference was organized by the Heterotaxy Research and Clinical Care Collaborative and Heterotaxy Connection.
• The conference brought together expert clinicians, scientists, patients, and families.
• Discussions focused on state-of-the-art knowledge and strategies for enhancing research and care.

Main Results:

• Identified critical needs for consistent definitions and standardized multidisciplinary practice guidelines.
• Highlighted the importance of local clinical champions and a centralized national registry.
• Facilitated the establishment of collaborative networks among stakeholders.

Conclusions:

• Improved heterotaxy research and clinical care necessitate a coordinated, multidisciplinary approach.
• Standardization of definitions, guidelines, and data collection (e.g., through a national registry) is crucial.
• Building strong networks among experts, patients, and families is key to advancing the field.