Achalasia-associated megaoesophagus presenting with dyspnoea and cough.

We present an unusual case of achalasia presenting with dyspnoea and persistent cough. These symptoms persisted for months, leading to the patient undergoing a chest X-ray by her general practitioner which showed right basal consolidation and a density extending along the right mediastinum. CT scan was done which revealed megaoesophagus with a diameter of 7 cm causing tracheal compression, as well as right basal consolidation, consistent with aspiration. Further history revealed 6-month history of progressive swallowing difficulty, retrosternal chest pain and shortness of breath which worsened when eating solid foods. After thorough workup, a diagnosis of idiopathic achalasia (type II) was made. She was treated with laparoscopic Heller cardiomyotomy and Dor fundoplication with significant improvement at follow-up. Dyspnoea and respiratory symptoms are unusual presenting symptoms, suggesting a need to consider achalasia in a wider range of presentations. Successful treatment of achalasia depends on timely diagnosis and intervention prior to oesophageal failure.

Exploring the neural mechanisms underlying achalasia: A study of functional connectivity and regional brain activity.

BACKGROUND AND AIMS: The pathophysiology of achalasia, which involves central nuclei abnormalities, remains unknown. We investigated the resting-state functional MRI (rs-fMRI) features of patients with achalasia. METHODS: We applied resting-state functional MRI (rs-fMRI) to investigate the brain features in patients with achalasia (n = 27), compared to healthy controls (n = 29). Focusing on three regions of interest (ROIs): the dorsal motor nucleus of the vagus (DMV), the nucleus ambiguus (NA), and the nucleus of the solitary tract (NTS), we analyzed variations in resting-state functional connectivity (rs-FC), fractional amplitude of low-frequency fluctuations (fALFF), and regional homogeneity (ReHo). RESULTS: Achalasia patients demonstrated stronger functional connectivity between the NA and the right precentral gyrus, left postcentral gyrus, and left insula. No significant changes were found in the DMV or NTS. The fMRI analysis showed higher rs-FC values for NA-DMV and NA-NTS connections in achalasia patients. Achalasia patients exhibited decreased fALFF values in the NA, DMV, and NTS regions, as well as increased ReHo values in the NA and DMV regions. A positive correlation was observed between fALFF values in all six ROIs and the width of the barium meal. The NTS fALFF value and NA ReHo value displayed a positive correlation with integrated relaxation pressure (IRP), while the ReHo value in the right precentral gyrus showed an inverse correlation with the height of the barium meal. CONCLUSIONS: Abnormal rs-FC and regional brain activity was found in patients with achalasia. Our study provides new insights into the pathophysiology of achalasia and highlights the potential of rs-fMRI in improving the diagnosis and treatment of this condition.

Esophageal Radiography Interpretation: a Primer for the Gastroenterologist.

PURPOSE OF REVIEW: Radiological studies can be helpful when evaluating patients with suspect esophageal disorders. From benign strictures to malignancy and motility disorders such as achalasia, imaging modalities play a significant role in diagnosis. This review explores the role of different imaging modalities in the most frequently encountered esophageal pathologies. RECENT FINDINGS: Conventional barium esophagram has long been considered the primary imaging modality of the esophagus. In the same fashion, a timed barium esophagram is a valuable tool in the evaluation of achalasia and esophagogastric junction outlet obstruction. Over the last few decades there has been an increase in CT and MRI studies, which also play a role in the evaluation of esophageal pathologies. However, not infrequently, these newer imaging techniques can result in incidental esophageal findings. It is important that gastroenterologists appreciate the value of different modalities and recognize key imaging features. The diagnosis and management of esophageal disorders is evolving. A basic understanding of esophageal radiology is essential to any gastroenterologist caring for patients with esophageal complaints.

Quantifying the subjective: length-to-height ratio characterizes achalasia esophageal tortuosity.

BACKGROUND: Esophageal morphology in achalasia is thought to affect outcomes, with "end-stage" sigmoidal morphology faring poorly; however, evaluation of morphology's role in outcomes has been limited by lack of objective characterization. Hence, the goals of this study were twofold: characterize the variability of timed barium esophagram (TBE) interpretation and evaluate an objective classification of TBE tortuosity: length-to-height ratio (LHR). We hypothesized that the esophagus must elongate to become sigmoidal such that sigmoidal morphology would demonstrate a larger LHR. METHODS: Ninety pre-operative TBEs were selected from an institutional database. Esophageal morphology was categorized as straight, intermediate, or sigmoidal. Esophageal length was measured by a mid-lumen line from the aortic knob to the esophagogastric junction on TBE; height was measured vertically from the aortic knob to the level of the esophagogastric junction. The length divided by the height generated the LHR. Descriptive statistics and frequency of expert agreement were calculated. Median LHR was compared between consensus morphologies. A receiver operating characteristic (ROC) determined the optimal LHR for sigmoidal vs non-sigmoidal characterization. RESULTS: From a total of 90 pre-operative TBEs, expert consensus morphology was reached in 56 (62.2%) cases. Pairs of experts agreed on morphology in 62-74% of TBEs, with all three experts agreeing on 46.7-48.9% of cases. Median LHR between expert consensus morphologies was 1.03, 1.09, and 1.24 for straight, intermediate, and sigmoidal morphologies, respectively (p < 0.001). ROC demonstrated that an LHR cutoff of 1.13 was 100% sensitive and 95% specific (AUC 0.99) for ruling out sigmoidal morphology. CONCLUSION: These findings confirm our anecdotal experience that subjective morphology interpretation is variable, even between experts at a high-volume center. LHR provides an objective method for classification, allowing us to overcome the limitations of inter-observer variability, thus paving the way for future study of the role of morphology in achalasia outcomes.

Impaired sliding between the lower esophageal sphincter and crural diaphragm (esophageal hiatus) in patients with achalasia esophagus.

Swallow-related axial shortening of the esophagus results in the formation of phrenic ampulla in normal subjects; whether it is the case in achalasia esophagus is not known. The goal is to study axial shortening of the esophagus and relative movement between the lower esophageal sphincter (LES) and crural diaphragm (CD) in normal subjects and patients with achalasia. A novel method, isoimpedance contour excursion at the lower edger of LES, as a marker of axial esophageal shortening was validated using X-ray fluoroscopy (n = 5) and used to study axial shortening and separation between the LES and CD during peristalsis in normal subjects (n = 15) and patients with achalasia type 2 esophagus (n = 15). Abdominal CT scan images were used to determine the nature of tissue in the esophageal hiatus of control (n = 15) and achalasia patients (n = 15). Swallow-induced peristalsis resulted in an axial excursion of isoimpedance contours, which was quantitatively similar to the metal clip anchored to the LES on X-ray fluoroscopy (2.3 ± 1.4 vs. 2.1 ± 1.4 cm with deep inspiration and 2.7 ± 0.6 cm vs. 2.7 ± 0.6 cm with swallow-induced peristalsis). Esophageal axial shortening with swallows in patients with achalasia was significantly smaller than normal (1.64 ± 0.5 cm vs. 3.59 ± 0.4 cm, P < 0.001). Gray-level matrix analysis of CT images suggests more "fibrous" and less fat in the hiatus of patients with achalasia. Lack of sliding between the LES and CD explains the low prevalence of hiatus hernia, and low compliance of the LES in achalasia esophagus, which likely plays a role in the pathogenesis of achalasia.NEW & NOTEWORTHY Swallow-related axial shortening of the esophagus is reduced, and there is no separation between the lower esophageal sphincter and crural diaphragm (CD) with swallowing in patients with achalasia esophagus. Fat in the hiatal opening of the esophagus appears to be replaced with fibrous tissue in patients with achalasia, resulting in tight anchoring between the LES and CD. The above findings explain low prevalence of hiatus hernia and the low compliance of the LES in achalasia esophagus.

Optimal surgical approaches for esophageal epiphrenic diverticulum: literature review and our experience.

Esophageal epiphrenic diverticulum is a rare condition usually secondary to a primary esophageal motility disorder. Although epiphrenic diverticulum may be treated by thoracoscopic and laparoscopic management, the optimal surgical approach have not been established. We successfully treated a left epiphrenic diverticulum along with achalasia and paraesophageal hernia by a planned combination of thoracoscopic and laparoscopic procedures aided by preoperative simulation using three-dimensional imaging. We reviewed a series of 17 reports on esophageal epiphrenic diverticulum that required either planned or unplanned unexpected transthoracic surgery. The main reasons for requiring a transthoracic approach were adhesions, site and size of the diverticulum, and length of the diverticulum neck. Unplanned procedure changes were required in 12 of the 114 cases for a conversion rate of 10.5%. Diverticulectomy, myotomy, and fundoplication were the most common surgical treatments administered at 42.6%. Based on literature review and our experience, we have developed a flowchart to identify the characteristics of epiphrenic diverticulum cases that require a transthoracic approach. This flowchart can help to determine therapeutic strategies and the optimal surgical approach to esophageal epiphrenic diverticulum treatment and may reduce unplanned changes in the surgery.

The utility of Endoscopic Functional Luminal Imaging (EndoFLIP) in the diagnosis and management of children with achalasia.

BACKGROUND: Per-oral endoscopic myotomy (POEM) has is an alternative treatment to laparoscopic Heller myotomy for children with achalasia. The EndoFLIP functional luminal imaging system is used to measure esophagogastric junction (EGJ) distensibility pre- and post-POEM. Previous adult studies have established a correlation between obstructive symptoms and Distensibility Index (DI). Here we analyze the utility of EndoFLIP in diagnosis and management of achalasia in the largest study on pediatric POEM patients and hypothesize that DI may aid diagnosis and treatment of pediatric achalasia. METHODS: Demographics, preoperative basal and residual pressures measured on manometry, and EndoFLIP measurements pre- and post-POEM were recorded for children that underwent POEM. Pearson correlation coefficient and T-scores were used to assess for correlation between manometry measurements and pre-POEM DI. Linear regression was conducted to analyze the relationship between pre-POEM DI, Eckardt scores, and manometry pressures. RESULTS: Of 33 patients that underwent POEM and EndoFLIP since 2014 (21 male, 12 female), the median pre-POEM Eckardt score decreased from 7 to 1 post-POEM. The median basal pressure was 50 ± 25 mmHg, pre-POEM DI was 0.9 (0.8-1.6) mm2/mmHg and the post-POEM DI was 3.8 (3.2-4.4) mm2/mmHg. There was no correlation between DI and basal pressure or residual pressure, though there was a strong negative correlation between Eckardt scores and DI. CONCLUSION: The EndoFLIP system is a valuable tool in adult patients in diagnosing achalasia and defining the endpoint of the POEM procedure. We find that there is a role for EndoFLIP in the pediatric population in diagnosis and management of the disease. TYPE OF STUDY & LEVEL OF EVIDENCE: Study of diagnostic test; Level IV.

Improved esophagography screening for esophageal motility disorders using wave appearance and supra-junctional ballooning.

BACKGROUND: High-resolution manometry (HRM) is the gold standard for diagnosing esophageal motility disorders (EMDs); however, it requires specialized equipment. The development of more accessible screening examinations is expected. We evaluated the utility of barium esophagography (BE) screening using two novel findings to diagnose EMDs. METHODS: Between January 2013 and October 2020, 244 patients with suspected EMDs who underwent both HRM and BE were analyzed. The EMD diagnosis was based on HRM findings using Chicago Classification version 3.0. BE was performed using sequential esophagography with barium sulfate. Three conventional BE findings (air-fluid level, rosary-bead/corkscrew appearance, and absent/weak peristalsis) and two novel BE findings (wave appearance and supra-junctional ballooning) were used for diagnosis. RESULTS: The sensitivity and specificity of BE screening using the two novel findings and conventional findings to diagnose EMDs were 79.4% and 88%, respectively [area under the receiver-operating characteristic curve (AUC) = 0.837]. Without these novel findings, they were 63.9% and 96%, respectively (AUC = 0.800), respectively. Achalasia was highly correlated with the air-fluid level (88.7%). Absent contractility was highly correlated with absent/weak peristalsis (85.7%). Relatively high correlations were observed between distal esophageal spasm and rosary-bead/corkscrew appearance (60%), and between achalasia and wave appearance (59.7%). The intra-observer reproducibility and inter-observer agreement for individual BE findings were 84.4% and 75%, respectively. Wave appearance was associated with higher integrated relaxation pressure (IRP) and shorter distal latency. Supra-junctional ballooning was associated with higher IRP. CONCLUSIONS: BE screening using two additional novel findings to diagnose EMDs could be useful in general practice.

A comparative study of robotic and laparoscopic approaches to Heller myotomy.

OBJECTIVE: Minimally invasive Heller myotomy for achalasia is commonly performed laparoscopically, but recently done with robotic assistance. We compare outcomes of the 2 approaches. METHODS: From January 2010 to January 2020, 447 patients underwent Heller myotomy with anterior fundoplication (170 with robotic assistance and 277 laparoscopically). End points included short-term and longitudinal esophageal emptying according to timed barium esophagram, symptom relief according to Eckardt score, and time-related reintervention. Normal esophageal morphology, present in 328 patients, was defined as nonsigmoidal with width <5 cm. We performed a propensity score--matched analysis to evaluate outcomes among robotic and laparoscopic groups. RESULTS: Timed barium esophagrams showed complete emptying at 5 minutes in 58% (77/132) of the robotic group and 48% (115/241) of the laparoscopic group in the short term (within 6 months of surgery). In the propensity-matched patients with normal esophageal morphology, the robotic group had a higher longitudinal prevalence of complete emptying of barium at 5 minutes (54% vs 34% at 4 years; P = .05), better intermediate-term Eckardt scores (1.7% vs 10% > 3 at 4 years; P = .0008), and actuarially fewer reinterventions (1.2% vs 11% at 3 years; P = .04). CONCLUSIONS: Both robotically assisted and laparoscopic Heller myotomy had excellent outcomes in patients treated for achalasia. In a matched subgroup of patients with normal esophageal morphology within this heterogeneous disease, the robotic approach might be associated with greater esophageal emptying, palliation of symptoms, and freedom from reintervention in the intermediate term. Long-term analysis would be important to determine if this trend persists.