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.

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Heterotaxy Syndrome with Polysplenism and Left Atrial Isomerism

Journal of General Internal Medicine ◽

10.1007/s11606-021-06752-2 ◽

2021 ◽

Author(s):

Jordan See ◽

E. Colin Daingerfield ◽

Michael A. Santos

Keyword(s):

Left Atrial ◽

Heterotaxy Syndrome ◽

Atrial Isomerism

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Heterotaxy syndrome: This is the left, right?

South African Journal of Radiology ◽

10.4102/sajr.v19i2.902 ◽

2015 ◽

Vol 19 (2) ◽

Author(s):

Lili Huang ◽

Belinda J. Mitchell ◽

Savvas Andronikou ◽

Zarina I. Lockhat ◽

Farhana Suleman

Keyword(s):

Morphological Characteristics ◽

Imaging Modalities ◽

Right Atrial ◽

Abdominal Organ ◽

Heterotaxy Syndrome ◽

Diagnostic Challenge ◽

Complex Disorder ◽

Left And Right ◽

Atrial Isomerism ◽

Heterotaxy Syndromes

Heterotaxy syndrome is a rare and complex disorder of the chest and abdominal organ arrangements, and presents a diagnostic challenge to the radiologist. This article describes the morphological characteristics of heterotaxy and situs abnormalities, in particular left and right atrial isomerism, and suggests an approach in evaluating the spectrum of abnormalities associated with heterotaxy syndromes, using appropriate imaging modalities.

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Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism

Cardiology in the Young ◽

10.1017/s1047951121003620 ◽

2021 ◽

pp. 1-8

Author(s):

Anastasia Fotaki ◽

Victoria L. Doughty ◽

Winston Banya ◽

Stefano Giuliani ◽

Sarah Bradley ◽

...

Keyword(s):

Abdominal Surgery ◽

Left Atrial ◽

Right Atrial ◽

Medium Term ◽

Heterotaxy Syndrome ◽

Term Survival ◽

Ladd Procedure ◽

Atrial Isomerism ◽

The Impact ◽

Gastrointestinal Abnormalities

Abstract Background and aim: Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome. Methods: We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan–Meier curves were derived for survival data and freedom from intervention. Results: Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001). Conclusions: In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.

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Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome

Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology ◽

10.5543/tkda.2014.71173 ◽

2014 ◽

Vol 42 (2) ◽

pp. 182-185 ◽

Cited By ~ 1

Author(s):

SECIL KURTULMUS

Keyword(s):

Left Atrial ◽

Antenatal Diagnosis ◽

Heterotaxy Syndrome ◽

Atrial Isomerism

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The prevalence of lower airway anomalies in children with Down syndrome compared to controls

Pediatric Pulmonology ◽

10.1002/ppul.24741 ◽

2020 ◽

Vol 55 (5) ◽

pp. 1259-1263 ◽

Cited By ~ 4

Author(s):

Mariska De Lausnay ◽

Stijn Verhulst ◽

Lieve Boel ◽

Marek Wojciechowski ◽

An Boudewyns ◽

...

Keyword(s):

Down Syndrome ◽

Lower Airway ◽

Children With Down Syndrome ◽

Airway Anomalies

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Lower airway anomalies in children with CATCH 22 syndrome and congenital heart disease

Pediatric Pulmonology ◽

10.1002/ppul.22674 ◽

2012 ◽

Vol 48 (6) ◽

pp. 587-591 ◽

Cited By ~ 8

Author(s):

Ching-Chia Wang ◽

Shyh-Jye Chen ◽

En-Ting Wu ◽

Chun-An Chen ◽

Shuenn-Nan Chiu ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Lower Airway ◽

Catch 22 ◽

Airway Anomalies

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Obstructive Sleep Disorders in Down Syndrome’s Children with and without Lower Airway Anomalies

Children ◽

10.3390/children8080693 ◽

2021 ◽

Vol 8 (8) ◽

pp. 693

Author(s):

Mariska De Lausnay ◽

Stijn Verhulst ◽

Kim Van Hoorenbeeck ◽

An Boudewyns

Keyword(s):

Upper Airway ◽

Treatment Choice ◽

Treatment Modalities ◽

Lower Airway ◽

Apnea Hypopnea Index ◽

Similar Distribution ◽

Obstructive Sleep ◽

Z Scores ◽

Study Population ◽

Airway Anomalies

(1) Background: Obstructive sleep apnea (OSA) and lower airway anomalies are both highly prevalent in children with Down syndrome (DS). However, little is known on the interaction between both. We aim to investigate the co-occurrence of OSA (defined as obstructive apnea/hypopnea index (oAHI) ≥ 2/h) and lower airway anomalies in children with DS and explore their impact on OSA severity and treatment outcome. (2) Methods: Retrospective analysis of data from airway endoscopy and polysomnography (PSG) in a cohort of children with DS. (3) Results: Data on both lower airway evaluation and PSG were available for 70 patients with DS. Our study population was relatively young (mean age 3.5 years), not obese and presented with severe OSA (mean oAHI 13.1/h). Airway anomalies were found in 49/70 children (70%), most frequently laryngomalacia, tracheomalacia or a combined airway malformation. In the remaining 21 cases (30%), endoscopy was normal. A comparison between both groups showed a similar distribution of gender, age and BMI z-scores. The prevalence of OSA was not significantly higher in DS patients with airway anomalies (89.6% vs 71.4%, p = 0.078). Additionally, OSA severity or treatment choice (conservative, upper airway surgery or CPAP) were not significantly different. Follow-up data (available for 49/70 patients) showed a significant improvement of OSA in both groups. There is a not significant tendency to more patients with persistent OSA among those with lower airway anomalies (34.3% vs 7.1%, p = 0.075). (4) Conclusions: We found no significant differences in OSA severity, treatment choice or outcome between children with DS with and without lower airway anomalies. Further studies should investigate the role of DISE-directed treatment and compare the outcome of different treatment modalities in larger patient groups.

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