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Case Report: Exploring KMT2D mutation in Shone syndrome.

Peiwen Cheng¹, Corlina Matthew¹, Guozhen Wang¹

¹Department of Thoracic Surgery, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing, China.

Frontiers in Cardiovascular Medicine

|May 11, 2026

Summary

This summary is machine-generated.

A rare KMT2D gene variant was identified in a child with Shone syndrome, a complex congenital heart defect. This finding suggests a potential genetic link between KMT2D variants and Shone syndrome, though further research is needed.

Area of Science:

Genetics
Cardiology
Developmental Biology

Background:

Shone syndrome is a rare congenital heart disease involving multiple left-sided obstructive lesions.

Keywords:

KMT2D Kabuki syndrome Shone complex left-sided obstructive congenital heart disease whole-exome sequencing

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KMT2D gene variants are known causes of Kabuki syndrome and are linked to congenital heart defects, but their role in Shone syndrome is unclear.