Virginia Via Research Day Book 2026

Medical Student Research Case Reports

15 PRIMARY CILIARY DYSKINESIA PRESENTING AS HETEROTAXY SYNDROME AND MULTI-SYSTEM CONGENITAL MALFORMATIONS: A CASE REPORT

Hannah Duraiswamy, OMS III; Oscar Sugastti, MD Corresponding author: hduraiswamy@vcom.edu

VCOM-Virginia, Blacksburg, Virginia

and prompted initiation of ongoing preventive and maintenance respiratory care. Comments: A literature search was conducted using NIH, PubMed, and Google Scholar with the terms ‘primary ciliary dyskinesia,’ ‘heterotaxy,’ ‘laterality defects,’ and ‘congenital heart disease. PCD is associated with laterality defects, and at least 6.3% of patients with PCD have heterotaxy, most of whom also exhibit cardiovascular abnormalities, reflecting the mechanistic link between ciliary dysfunction and abnormal left–right axis development. Patients with PCD and heterotaxy have a markedly higher prevalence of congenital heart disease compared with the general population, yet descriptions of severe, multi-lesion cardiac anomalies in genetically confirmed PCD remain limited. This case highlights that in children with heterotaxy and complex congenital heart disease, PCD can be present even when early diagnostic tests are inconclusive, and that diagnosis requires persistence and comprehensive genetic and functional evaluation.

Context: Primary ciliary dyskinesia (PCD) is most associated with chronic respiratory disease and laterality defects, yet its association with severe congenital heart disease is underrecognized. This case highlights the link between ciliary dysfunction, heterotaxy, and complex cardiac malformations and the importance of a comprehensive work-up for diagnosis. Report of Case: A 4-year-old male with heterotaxy syndrome and congenital asplenia was initially found to have dextrocardia. Cardiac imaging revealed double outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis, and an unbalanced common atrioventricular canal. Because of clinical suspicion for a ciliary disorder due to repeated respiratory infections, a nasal ciliary biopsy was performed during the first year of life; however, the results were negative and therefore nondiagnostic. Subsequent genetic testing identified variants of uncertain significance associated with primary ciliary dyskinesia, and although no clearly pathogenic mutation was initially detected, these findings supported a working diagnosis of PCD

Diagnosis: Primary ciliary dyskinesia associated with heterotaxy syndrome and complex congenital heart disease certainty: moderate to high, based on a consistent clinical phenotype with heterotaxy and chronic respiratory disease, supported by genetic variant associated with PCD. Consent: The authors obtained consent from the patient’s guardian to use their data for this case report .

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52 Edward Via College of Osteopathic Medicine (VCOM)