CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardiovascular Biologics and Regenerative Medicine
This article is part of the Research TopicDeciphering Cardiovascular Cell Heterogeneity with Single Cell RNA SequencingView all 5 articles
Single-Cell RNA Sequencing Reveals Cellular and Molecular Mechanisms in Newborn Cardiac Hemangioma Formation
Provisionally accepted
- 1West China Second University Hospital, Sichuan University, Chengdu, China
- 2West China Hospital of Sichuan University, Chengdu, China
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Primary cardiac hemangiomas are extremely rare benign tumors, with limited molecular characterization available. This study investigated a case of mixed-type intracardiac hemangioma in a 17-day-old female neonate, initially detected via prenatal echocardiography and confirmed by postoperative histopathology. The right atrial mass (1.7×2.0×2.1 cm) was surgically resected, and 1-year follow-up, which included transthoracic echocardiography every 3 months and cardiac MRI every 6 months, showed no recurrence and normal cardiac function. Single-cell RNA sequencing was performed on the tumor tissue, yielding 4,888 high-quality cells after quality control. These cells were classified into 9 distinct types, with fibroblasts/myofibroblasts and smooth muscle cells accounting for nearly half the population. Endothelial cells were subdivided into two clusters: Cluster 1, enriched in immune inflammation, cell adhesion, and signal transduction. And Cluster 2, focused on mitochondrial energy metabolism and ribosome biogenesis. InferCNV analysis revealed relative genomic stability, with only minor copy number variations on chromosome 13 in Cluster 1, supporting the tumor's benign nature. Cell communication analysis identified Cluster 1 as the primary effector cell in hemangioma formation, receiving VEGF signals mainly from myeloid-derived suppressor cells and common myeloid progenitors, while also driving collagen synthesis-related pathways. This study provides critical insights into the cellular and molecular mechanisms of cardiac hemangiomas, filling gaps in current understanding of this rare tumor.
Keywords: single-cell RNA sequencing, Cardiac hemangioma, neonate, molecular mechanism, VEGF signals
Received: 09 Aug 2025; Accepted: 18 Nov 2025.
Copyright: © 2025 Li, Li, An and Luo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yifei Li, liyfwcsh@scu.edu.cn
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