Ventilation-perfusion Scan: A Functional Imaging Approach to Regional Lung Disease in Primary Ciliary Dyskinesia

Background As a rare genetic disorder defined by defective ciliary motility, Primary Ciliary Dyskinesia (PCD) leads to chronic respiratory complications. A founder variant in the RSPH4A c. 921+3₉21+6del gene, common in Puerto Rico, impairs ciliary function and contributes to progressive lung disease. Today, the clinical value of ventilation/perfusion (V/Q) scans in PCD has not been thoroughly investigated, as well as pulmonary function tests (PFTs) and chest imaging. Objective To explore the role and clinical utility of V/Q scans in PCD. Methods Retrospective evaluation of pulmonary function tests, chest imaging, and Tc-99m DTPA ventilation and Tc-99m MAA perfusion scans in ten patients with genetically confirmed RSPH4A -associated PCD. Results Regional lung dysfunction was present in V/Q scans of patients with PCD. Age-related FEV 1 decline and severity of bronchiectasis on chest imaging were depicted in V/Q scans. Conclusion V/Q scans may identify functional abnormalities in PCD and complement standard imaging and pulmonary function tests. These scans may serve as valuable tools for monitoring disease progression and informing clinical decision-making.