Published March 11, 2026 | Version v1
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Single-nuclei transcriptomic profiling of human myocardium in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Authors/Creators

  • 1. ROR icon Baylor College of Medicine

Description

Single-nuclei transcriptomic profiling of human myocardium in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Hanna J. Tadros MBBCh1, Diwakar Turaga MD, PhD2,3, Yi Zhao PhD6, Chang-Ru Tsai, PhD9, Lalita Wadhwa PhD4, Debra L. Kearney MD7, Iki Adachi MD4,5, Xiao Li PhD6,8, James F. Martin MD, PhD6,9,10*

1. Department of Pediatrics, Section of Pediatric Cardiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.

2. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

3. Division of Critical Care Medicine, Texas Children's Hospital, Houston TX, USA

4. Department of Surgery, Baylor College of Medicine, Houston, TX, USA

5. Division of Congenital Heart Surgery, Texas Children's Hospital, Houston, TX, USA

6. The Texas Heart Institute at Baylor College of Medicine, Houston, TX, USA

7. Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA

8. Department of Medicine, Baylor College of Medicine, Houston, TX, USA

9. Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA

10. Center for Organ Repair and Renewal, Baylor College of Medicine, Houston, TX, USA

 

*Corresponding author. Email: jfmartin@bcm.edu

Abstract

Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare metabolic disorder that leads to disordered fatty acid oxidation. LCHADD presents as infantile cardiomyopathy in approximately 30% of patients, whom often will go on to develop HF or sudden cardiac arrest. Although early diagnosis, dietary modification, and genotype affects outcomes, the cardiac molecular phenotype remain less understood. We describe the microtissue environment using single nuclei RNA sequencing in a subject with LCHADD requiring heart transplantation and compare findings to age-matched dilated cardiomyopathy patients and donor controls, revealing potential molecular and cellular targets that warrant further investigation in LCHADD-associated cardiac disease.

Table of contents

snRNA-seq_matrcies:

  • 2 DCM subjects (DCM1/DCM2)
  • 1 LCHADD subject (LCHADD1)

 Format: Standard 10x CellRanger output matrix files

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