Holt-Oram Syndrome and Pulmonary Artery Sling with Tracheal Stenosis: A Case Report of a Rare Combination of Two Rare Diseases
Pailin Ratanawatkul1, Wipa Reechaipichitkul1, Worawat Chumpangern1, Itthiphat Arunsurat1, Burabha Pussadhamma2
Affiliation : 1 Division of Pulmonary and Critical Care Medicine, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 2 Division of Cardiology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
Background: Holt-Oram syndrome is a rare genetic disorder characterized by abnormalities in the upper extremities and commonly associated with heart problems. Pulmonary arterial sling is a congenital disorder in which the left pulmonary artery originates from the right pulmonary artery, encircling the trachea or esophagus. The authors report a unique case involving the rare combination of these two distinct diseases.
Case Report: A 21-year-old female presented with fever, wheezing, and respiratory failure. Physical examination revealed central rhonchi, a loud P2, systolic ejection murmur, and radial polydactyly on both hands. The electrocardiogram displayed sinus tachycardia and a notch in the QRS complex in all inferior leads, consistent with the Crochetage sign, suggesting an atrial septal defect (ASD). After intubation, elevated peak airway pressure was detected. Bronchoscopy identified circumferential narrowing of the trachea. CT chest revealed a pulmonary arterial sling wrapping around the trachea. Echocardiography confirmed the presence of ASD and pulmonary hypertension.
Conclusion: This case represents the co-occurrence of Holt-Oram syndrome, a heart-hand syndrome, with a pulmonary arterial sling. Pulmonary infection in this case exacerbated pulmonary hypertension, resulting in increased constriction of the sling and compromised airway function.
Received 1 April 2024| Revised 28 May 2024| Accepted 4 June 2024
DOI: 10.35755/jmedassocthai.2024.S01.S157-S160
Keywords : Holt-Oram syndrome; Pulmonary arterial sling; Tracheal stenosis; Heart-hand syndrome; Atrial septal defect
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