Clinical Implications of Airway Anomalies and Stenosis in Patients with Heterotaxy Syndrome

In heterotaxy syndrome, bronchopulmonary situs usually reflects atrial situs, resulting in either right (RAI) or left atrial isomerism (LAI). This study determines airway anomalies and its implications in patients with heterotaxy. This retrospective study included 223 patients with heterotaxy syndrome who received an integrated cardiac computed tomography evaluation. Patient database from 1995 to 2020 was reviewed. The patients were examined by a congenital heart disease team comprising pediatric cardiologists, radiologists, pulmonologists, and cardiovascular surgeons. Among the 223 patients, 189 (84.8%, M/F=1.66) had RAI and 29 had LAI (13.0%, M/F=0.71). Five patients had indeterminate isomerism (2.2%, M/F=1.5). Discordant bronchopulmonary and atrial situs occurred in 4% patients, while discordant bronchopulmonary, atrial, and splenic situs occurred in 23.2% patients. Lower airway stenosis was observed in 61 patients (27.4%), including 27.5%, 20.7%, and 60% RAI, LAI, and indeterminate isomerism patients, respectively (p=0.189). One patient had an intrinsic long segment lower tracheal stenosis and received slide tracheoplasty. Initial cardiac operation was performed in 213 patients. Higher surgical mortality occurred in patients with RAI (19.5% vs. none for LAI and indeterminate isomerism, p=0.038). In patients with RAI, lower airway anomaly/stenosis increased the duration of ventilator usage (p=0.030) but did not affect surgical mortality. Total anomalous pulmonary venous return to systemic veins and pulmonary venous stenosis were major surgical risk factors. Bronchopulmonary isomerism shares a similar isomeric pattern to cardiac atrial appendage. Lower airway anomalies/stenosis was common in patients with heterotaxy, resulting in prolonged ventilator therapy in patients with RAI.

Platypnea–orthodeoxia syndrome in a postoperative patient: a case report

Background We report a case of platypnea–orthodeoxia syndrome observed in a complex clinical situation associating a bilateral pleural effusion, lobar pulmonary embolism, and a partial anomalous pulmonary venous return. Case presentation A 57-year-old Caucasian woman developed acute dyspnea in the postoperative course of an elective gynecological surgery for advanced stage ovarian cancer. Preoperative evaluation had failed to reveal any respiratory or cardiac problem. After evidence of a low arterial oxygen saturation, blood gas analysis from the central venous line correctly inserted in the right internal jugular vein revealed a higher oxygen saturation than in the arterial compartment. A thoracic computed tomography showed bilateral pleural effusion, lobar pulmonary embolism, and a drainage of a left pulmonary vein into the left innominate vein. This unique combination resulted in an uncommon cause of platypnea–orthodeoxia syndrome. Conclusion Often associated with right-to-left shunting, platypnea–orthodeoxia syndrome may be observed in complex clinical conditions with several factors influencing the ventilation/perfusion ratio. The paradoxical finding of a higher oxygen saturation in a central venous line than in an arterial line should prompt the clinician to look at the possibility of partial anomalous pulmonary venous return. No specific treatment is required in asymptomatic adults, except for an echocardiographic follow-up to detect the onset of pulmonary hypertension.

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.