Qianying Li, Lidan Cui, Jun Su, Yuelin Shen
Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital and Zhengzhou Children’s Hospital. Beijing Children’s Hospital and Capital Medical University.
China
Frontiers in Pharmacology
Front Pharmacol 2025;
DOI: 10.3389/fphar.2024.1510969
Abstract
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth. A chest CT scan revealed typical signs of ILD. Additionally, the patient exhibited congenital mydriasis, aortic coarctation, PDA, and pulmonary hypertension. Whole-exome sequencing identified a de novo variant c.536G > A (p.Arg179His) in the ACTA2 gene. These findings confirmed the diagnosis of MSMDS. Despite intensive hospital-based pulmonary care and optimized therapy, the child passed away due to sudden cardiac and respiratory arrest on the 12th day of hospitalization. This case underscores the importance of considering MSMDS in the differential diagnosis of infantile ILD.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Class III. Pulmonary Hypertension Associated with Lung Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes