of the Esophagus Giant Muscular Hypertrophy Thomas B. Ferguson, M.D., John D. Woodbury, M.D., Charles L. Roper, M.D., and Thomas H. Burford, M.D.

Transcription

1 Giant Muscular Hypertrophy of the Esophagus Thomas B. Ferguson, M.D., John D. Woodbury, M.D., Charles L. Roper, M.D., and Thomas H. Burford, M.D. S ince 1948 we have performed 112 Heller operations for motor dysfunction of the esophagus. All the patients had achalasia except for 14 that were diagnosed as having giant muscular hypertrophy. Formerly, this lesion was thought to be a variant of achalasia [7, 171, but manometric and cineroentgen studies have now shown conclusively that it is a separate functional disorder [4, 8, It has been described in the literature under a variety of names: by the radiologist as segmental spasm or corkscrew esophagus; by the gastroenterologist as diffuse esophageal spasm; and by the surgeon as giant muscular hypertrophy. This paper reviews the clinical features, the radiographic and manometric findings, and the surgical results in 14 patients who had a severe form of the disease and were treated by an extended Heller esophagomyotomy. DIAGNOSIS Table 1 contrasts the findings in giant muscular hypertrophy with those found in achalasia. Contrary to some reports [16], giant hypertrophy is not confined to the elderly. As with achalasia, the disease occurs at any age, although fewer patients in the earlier decades are seen. Our 14 patients ranged in age from 22 to 81 years; the median age at the time of operation was 52 years. Males predominated, 11 to 3, but other reports [6] show an equal sex distribution. Pain and dysphagia, usually occurring together and in episodes, are the principal symptoms. The pain is located low in the retrosternal region, may be quite severe, and generally is more likely to suggest cardiac pain than gastrointestinal pain. Unless there is an associated hiatal hernia, heartburn and other symptoms of reflux do not occur. Pain and dysphagia are described with such constancy that the disease should be suspected on the basis of these findings alone. The first English description of diffuse spasm by Moersch and Camp in 1934 stresses this point All our patients had dysphagia, and only 2 patients denied having pain, one a young man with all the findings of achalasia except the motility study, and the From the Division of Cardiothoracic Surgery, Department of Surgery, and the Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St. Louis, Mo. Presented at the Fifth Annual Meeting - of The Society of Thoracic Surgeons, San Diego, Calif., Jan , Address reprint requests to Dr. Ferguson, Suite 6106, 4989 Barnes Hospital Plaza, St. Louis, Mo VOL. 8, NO. 3, SEPTEMBER,

2 FERGUSON ET AL. TABLE 1. COMPARISON OF CLINICAL FEATURES OF GIANT MUSCULAR HYPERTROPHY AND ACHALASIA Muscular Hypertrophy Achalasia Clinical Features (14 patients) (98 patients) Median age 52 years 54 years Sex ratio 11 M,3F 54 M, 44 F Symptoms Pain and dysphagia Episodic dysphagia Median duration of 3.3 years 6.5 years symptoms Average weight loss 7 pounds 23 pounds Aspiration Absent Frequent Esophagogram Tertiary waves Dilatation Cine Hypermotility Atony Esophagoscopy Normal Retention Manometry Simultaneous contractions, Feeble contractions, normal gastroesophageal gastroesophageal sphincter sphincter spasm Operation 69% satisfactory 91% satisfactory other a patient with an associated mid-third pulsion diverticulum. Symptoms had been present for from one month to 10 years, with the median at 3.3 years; undoubtedly, pain causes the patient to seek help sooner. In contrast to patients with achalasia, weight loss was not marked, averaging only 7 pounds; aspiration pneumonitis and nutritional disturbances were not present. The radiographic features are usually distinctive, consisting of hypertonicity and hyperactivity of the thoracic esophagus, with the lower half usually showing greater involvement [I 11 (Fig. 1). Barium passage through the cardioesophageal FIG. 1. Lateral roentgenogram showing typical appearance of esophagus. 210 THE ANNALS OF THORACIC SURGERY

3 .~ Muscular Hypertrophy of Esophagus FIG. 2. Esophagogram showing large mid-third pulsion diverticulum. This lesion probably occurs only in conjunction with diffuse esophageal spasm. junction may be delayed, as in achalasia, or may be normal. Tertiary contraction waves may take the form of shallow ripples or be so pronounced that the barium column is segmented (pseudodiverticulosis). Dilatation to the degree seen in achalasia is rare. Four of our patients had mild esophageal dilatation, with only 1 case really suggestive of achalasia. Four patients had pulsion diverticula: 1 hypopharyngeal, 2 midthoracic, and 1 epiphrenic (Fig. 2). Hiatus hernias were present in 4 patients. Most series on diffuse spasm report a high incidence of associated diverticula and hiatus hernia [5]. The findings seen on barium swallow can be confirmed and enhanced by cine studies. All our patients had positive roentgenographic findings, although the correct diagnosis was made in only a few cases. The variety of previous clinical and roentgenographic diagnoses (Table 2) reflects general unawareness of the disorder. Esophagoscopy was performed preoperatively on all patients, but did not contribute significantly. Increased resistance to the passage of the esophagoscope was noted occasionally, but never to the degree seen in achalasia. Retention of food or liquid was observed in only three instances. Esophageal motility studies can be diagnostic and differentiate diffuse spasm TABLE 2. MISTAKEN DIAGNOSES AND THERAPY IN PATIENTS LATER PROVED TO HAVE MUSCULAR HYPERTROPHY.~ ~~~ Clinical Roentgenographic Diagnosis Diagnosis Previous Surgery Achalasia Achalasia Feeding gastrostomy Hiatus hernia Hiatus hernia Vagectomy and pyloroplasty Coronary disease Tertiary contractions Gastric resection Diverticulum Presb yesopliag us Duodenal ulcer Peptic esophagitis -4nxiety attack Stricture Psychoneurosis -_ VOL. 8, NO. 3, SEPTEMUER, 196!) 2 11

4 FERGUSON ET AL. From other motor disturbances of the esophagus [121. In this series preoperalive motility examinations were available in only 3 patients, so the diagnosis was either suspected preoperatively on the basis of clinical findings or was confirmed at operation. Primary peristalsis produced in the normal esophagus by deglutition passes without interruption from the cricopharyngeus to the cardia in approximately eight seconds. Pressures generated by the wave vary from 40 to 80 cm. H,O. Two to three seconds after swallowing, the gastroesophageal sphincter relaxes and the pressure within the sphincter (which normally is above that in the stomach) declines sharply. When the peristaltic wave reaches the sphincteric zone, the sphincter contracts, elevating the pressure to 20 to 30 cm. H20 for a short time, and then returns to the resting pressure of approximately 10 cm. H,O. FIG. 3. Representative motility tracings from 2 patients showing (A) simultaneous origin of a prolonged, double-peaked wave, and (B) repetitive strong contractions associated with chest pain. For these studies, three open-tip polyethylene catheters were placed in the body of the esophagus 5 cm. apart. The bottom trace is a pneumograph. The marker on the top line indicates a dry swallow. 212 THE ANNALS OF THORACIC SURGERY

5 Muscular Hypertrophy of Esophagus In diffuse spasm a characteristic distortion of this motility pattern is noted. On swallowing, the peristaltic wave may be obliterated or replaced in the involved area of the esophagus by a nonprogressive prolonged contraction (Fig. 3A). Two or more pressure peaks may follow a single swallow. The contractions may be repetitive and produce abnormally high pressure, often exceeding 200 cm. H,O (Fig. 3B). Pressures as high as 500 cm. H,O have been recorded. The gastroesophageal sphincter responds normally to swallowing, offering no obstruction to the passage of esophageal contents. The dysphagia, therefore, is the result of a nonpropulsive contraction proximal to the sphincter, rather than an abnormality of the sphincter itself. In achalasia, essentially the opposite circumstances are seenthat is, absence of peristaltic contractions in the body of the esophagus and failure of the gastroesophageal sphincter to relax at any time. TREATMENT AND RESULTS Surgical correction in our cases has consisted of long esophagomyotomy performed through the left side of the chest. It was necessary to extend the myotomy superiorly at least to the level of the inferior pulmonary vein, and in many cases to the inferior margin of the aortic arch. The thickness of the circular muscular layer was pronounced, measuring between 5 and 15 mm. Histological examination of this muscle in 3 cases showed chronic inflammation; ganglion cells were present and normal in appearance and distribution. As with achalasia, it is most important to look for and correct an associated hiatus hernia. Hernias were repaired in 4 patients, and diverticula were resected in another 4 patients. All patients recovered without significant postoperative complications. Inadvertent mucosal openings were made several times, but these were recognized and closed without incident by routinely distending the esophagus with methylene blue solution at the completion of the myotomy. One patient has been lost to follow-up; all the others have been recalled for observation. They are from 6 months to 12 years postoperative, the median being 4.9 years. Nine of the 13 (69%) are without symptoms of any kind, and the surgical results are considered satisfactory. Three patients, 2, 4, and 10 years after operation, are improved but still complain of occasional dysphagia; they describe a need for thorough mastication and ample fluids with meals. These symptoms have not been severe enough to require esophageal dilatation. These 3 cases are, considered fair surgical results. One case is classed as a poor result. This patient had a myotomy and hernia repair for typical pain and dysphagia. The dysphagia was relieved but retrosternal episodic pain persisted, and maoometry showed severe spasm in the upper half of the esophagus, in the area above the muscle section. Another myotomy was performed on the upper esophagus through a right thoracotomy. He was again improved, but is now having pain on exertion, and it appears that he may have both diffuse spasm and coronary artery disease. Postoperative roentgenographic and cine studies of the esophagus showed continued disordered contractile activity, but of lesser magnitude than preoperatively. Generally, the esophagus is widened in the area of the myotomy, but up to 12 years after operation there is no evidence of abnormal dilatation or pseudodiverticulum formation. A postoperative hiatus hernia was reported in 1 case, but the patient has no symptoms. Motility studies were obtained on 7 patients 6 months to 12 years after operation (median, 4.8 years). Figure 4 shows a representative tracing. As would be expected, simultaneous and repetitive contractions were still present, and normal propulsive waves were seen only rarely; but the amplitude of the contractions was markedly diminished. These findings persist up to 12 years after operation. In 2 of the patients studied manometrically pre- and postoperatively, an immediate reduction in wave amplitude was noted, and a further reduction was tlocumented at 6 and 12 months. This finding has been reported by others [6]. VOL. 8, NO. 3, SEPTEMBER,

6 FERGUSON ET AL. B FIG., Motility tracing (A) before operation and (B) six months after peration. Note that the wave forms are still simultaneous and abnormal, but lower in amplitude. The curves were obtained in the manner described in Figure 3. The marker on the top line indicates a dry swallow. COMMENT Diffuse esophageal spasm is now generally considered to be a distinct motility disorder of the esophagus [8, 151. Recognition was slow in coming, possibly because of the wide clinical spectrum or because in the past it has been confused with achalasia [7, 171. The essential clinical picture was reported accurately in 1934 by Moersch and Camp [14], and even today there is little to add to their lucid description. Motility studies, pioneered by the Mayo Clinic group [4], now make possible a specific diagnosis. With the increasing availability of manometry, it is apparent that the disorder is far more prevalent than previously suspected. Fleshler [8] states that in his experience it is a much more common 214 THE ANNALS OF THORACIC SURGERY

7 Muscular Hypertrophy of Esophagus entity, although producing less dramatic symptoms, than achalasia. Medical management of those patients who do not require operation rarely affords complete relief. The usual measures include sedation, a regimen for hiatus hernia, and analgesics. Of the total number of patients diagnosed as having this condition, relatively few have symptoms severe enough to require operation [8]. These are the patients recognized by surgeons to have marked thickening of the circular muscle, a condition that has been called giant muscular hypertrophy. On the basis of our experience, we are convinced that diffuse spasm and giant muscular hypertrophy are the same disease, with the muscular thickening being a secondary response to the severe spasm seen in symptomatic patients. The cause of the disorder is unknown. Degenerative changes in the ganglion cells of the myenteric plexus, frequently found in achalasia, have not been observed [9]. Cassella et al. [3], utilizing electron microscopy techniques, noted degenerative changes of the Wallerian type in extramural afferent vagal fibers from patients with diffuse esophageal spasm, whereas patients with achalasia were reported to have motor nucleus or efferent fiber involvement [2]. The results of animal experiments, however, are conflicting. Higgs and Ellis [lo] produced a picture resembling achalasia in dogs by bilateral high cervical vagectomy. Binder et al. [l], doing the same operation in 8 monkeys, produced an achalasia-like syndrome in 2 animals and the radiographic and motility findings of diffuse spasm in 5 other animals. The extended esophagomyotomy has proved to be satisfactory surgical therapy in the few reported series. Marston and Bradshaw [13] reported one of the early successes for giant muscular hypertrophy in this country. Gillies et al. [9], did seven myotomies for diffuse spasm with good results. Ellis et al. [6], in a follow-up on 27 patients with diffuse spasm and normal gastroesophageal sphincter, reported excellent or good results in 17 patients (63%), fair or poor results in 10. They noted a higher incidence of poor results in this disease as compared to myotomy for achalasia. Our findings are similar, with a 69% incidence of satisfactory results for giant hypertrophy, compared with a 91% satisfactory outcome in our patients operated upon for achalasia. SUMMARY AND CONCLUSIONS A series of 14 patients with giant muscular hypertrophy of the esophagus is presented. The muscular thickening is an anatomical sequela of severe diffuse esophageal spasm. This motility disorder is a clinical and pathological entity, distinct from achalasia and other motor disturbances. It is often misdiagnosed, but an increased awareness of the syndrome should lead to earlier recognition. Episodic dysphagia and VOL. 8, NO. 3, SEPTEMBER,

8 FERGUSON ET AL. retrosternal pain are constant features, and the esophagogram is usually distinctive. An associated hiatus hernia or diverticulum is often present. Manometric studies show a characteristic abnormal motility pattern. For the severe case, an extended Heller esophagomyotomy is the treatment of choice. Complete remission of symptoms and evidence of lasting improvement by esophagographic and manometric studies were obtained in 9 of the patients up to 12 years after operation. REFERENCES Binder, H. J., Bloom, D. L., Stern, H., Solitare, G. B., Thayer, W. R., and Spiro, H. M. The effect of cervical vagectomy on esophageal function in the monkey. Surgery 64: 1075, Cassella, R. R., Brown, A. L., Jr., Sayre, G. P., and Ellis, F. H., Jr. Achalasia of the esophagus. Ann. Surg. 160:474, Cassella, R. R., Ellis, F. H., Jr., and Brown, A. L., Jr. Diffuse spasm of the lower part of the esophagus. J.A.M.A. 191: 107, Creamer, B., Donoghue, F. E., and Code, C. F. Pattern of esophageal motility in diffuse spasm. Gastroenterology 34:782, Ellis, F. H., Jr., Code, C. F., and Olsen, A. M. Long esophagomyotomy for diffuse spasm of the esophagus and hypertensive gastroesophageal sphincter. Surgery 48:155, Ellis, F. H., Jr., Olsen, A. M., Schlegel, J. F., and Code, C. F. Surgical treatment of esophageal hypermotility disturbances. J.A.M.A. 188: 138, Ferguson, T. B., and Burford, T. H. An evaluation of the modified Heller operation in the treatment of achalasia of the esophagus. Ann. Surg. 1521, Fleshler, B. 8. Diffuse esophageal spasm. Gastroenterology 52:559, Gillies, M., Nicks, R., and Skyring, A. Clinical, manometric, and pathological studies in diffuse oesophageal spasm. Brit. Med. J. 2:527, Higgs, B., and Ellis, F. H., Jr. Effect of bilateral supranodosal vagotomy on canine esophageal function. Surgery 58:828, Johnstone, A. S. Diffuse spasm and diffuse muscle hypertrophy of lower oesophagus. Brit. J. Radiol. 33:723, Kelley, M. L., Jr. The clinical application of esophageal motility tests. Ann. Intern. Med. 59:338, Marston, E. L., and Bradshaw, H. H. Idiopathic muscular hypertrophy ot the esophagus. J. Thorac. Cardiovasc. Surg. 38:248, Moersch, H. J., and Camp, J. D. Diffuse spasm of the lower part of the esophagus. Ann. Otol. 43:1165, Roth, H. P., and Fleshler, B. Diffuse esophageal spasm. Ann. Intern. Med. 61:914, Soergel, K. H., Zboralske, F. F., and Amberg, J. R. Presbyesophagus. J. Clij.2. Invest. 43: 1472, Sweet, R. H. Surgical treatment of achalasia of the esophagus. New Eng. J. Med. 254:87, DISCUSSION DR. BEATTY H. RAMSAY (Santa Monica, Calif.): Having reported a single case of this entity in July, 1967, I was rather pleased when the Program Committee invited me to discuss this paper by Dr. Ferguson. When I received the program 1 found he had 14 cases, whereas in my previous review of the literature the largest 2 16 THE ANNALS OF THORACIC SURGERY

9 Muscular Hypertrophy of Esophagus group any surgeon had reported was 4 cases. So you find before you someone with one case discussing the largest reported group of such cases, and with complete manometric study. There are some similarities, however, between Dr. Ferguson s cases and my own. My patient was also in great distress, having lost 45 pounds and, in fact, was in danger of starvation. Like Dr. Ferguson s cases, he had severe segmental spasm: he had a myotomy from the aortic arch to the stomach, and within 10 weeks had regained 25 pounds. This brings us, then, to the question of what diagnostic features may lead us to recognize these cases and to provide a clinical cure for them. Three things, perhaps, should make us suspicious. First, in my one reported case, and in another suspected case, both patients had developed the habit of pounding their sternums in order to force the food down. Second, the roentgen findings can be suggestive. In addition to the severe curling, or spasm, if the patient should have a coexisting hiatus hernia, a doughnut-like invaginating collar into the herniated gastric fundus may be seen. This probably will not be evident except in the Trendelenburg position. This finding is almost certainly due to the greatly thickened esophageal musculature invaginating into the stomach. Third, I noted on esophagoscopy that the esophagoscope could be passed downward and withdrawn upward with moderate difficulty. Usually the esophageal wall is very pliable and permits easy movement of the esophagoscope within the lumen. In marked muscular hypertrophy the wall must be less distensible, and it creates a sensation that the esophagoscope is being firmly grasped. Finally, Dr. Ferguson has beautifully demonstrated the dynamic changes in intraesophageal pressure which occur in these cases. One other point, which has to do with his final comment about the relationship between the spasm and the hypertrophy, deserves evaluation. It is very tempting, indeed, to attribute hypertrophy of the muscle to severe spasm. Yet in reviewing the literature, we find that in some cases congenital hypertrophy has been found to extend throughout the entire gastrointestinal tract: likewise, there are some cases where the hypertrophy is limited to just a few centimeters at the lower end of the esophagus. Furthermore, why is it that in the many cases of peptic stenosis of the lower end of the esophagus, with many years of spasm, there is no hypertrophy? DR. FRANKLIN HENRY ELLIS, JR. (Rochester, Minn.): The condition that Dr. Ferguson has brought to our attention is of unknown cause and probably occurs more frequently than we realize. We have tended to use the term diffuse spasm, which, as he implies, is an all-inclusive term that covers not only cases of giant muscular hypertrophy but also cases with the same motility disturbance and symptoms but no thickening of the muscle. Lack of objective findings in many of these cases results in some patients being treated as psychoneurotics. For this reason I would like to stress again the importance of esophageal motility in diagnosis. It is also useful in determining the length of the myotomy incision to be made. Regarding the one patient Dr. Ferguson described who required a secondary procedure, perhaps with preoperative motility studies the length of the incision could have been more accurately determined ahead of time. Unfortunately, the results of long myotomy for this condition have not been as good as for esophageal achalasia. In our experience, about two-thirds to threequarters of these patients are improved, whereas over 90% of patients with esophageal achalasia are helped by the operation. I wonder if Dr. Ferguson has any explanation for this disparity. Because the results are less than perfect, we have been quite selective in determining which patients should be operated on. Many of these patients are VOL. 8, NO. 3, SEPTEMBER,

10 FERGUSON ET AL. quite unstable emotionally, and we have tended to avoid operating on such patients, if possible. Some of these patients have associated gastrointestinal diseases, such as biliary tract disease and duodenal ulcer, which may initiate esophageal spasm. We have not done esophagomyotomy in such patients until their primary disease has been corrected. We also have restricted the operation to those patients who have rather marked motility disturbances, and more and more we are restricting it to the type of patient Dr. Ferguson described, namely, those who have radiographic evidence suggesting giant muscular hypertrophy. DR. FERCUSON: Dr. Ellis, to my knowledge, has the largest series of whatever you want to call this disease, far exceeding our 14 patients. The patients in our series were selected because they had giant muscular hypertrophy, and it was only later, after we began to do motility studies, that we made the connection between giant hypertrophy and diffuse spasm. The majority of patients with diffuse spasm of the esophagus do not need an operation. Many patients with diffuse spasm who do need an operation do not have muscular hypertrophy. The group of patients with diffuse spasm and muscular hypertrophy probably represent the extreme form or end stage of this disease. Dr. Ramsay, I justify making the correlation between the two because the motility studies, even in the patients who have had myotomies, are so characteristic of diffuse spasm that our gastroenterologist, Dr. John Woodbury, tells us there is no question about the diagnosis. I certainly would join with Dr. Ellis in emphasizing that the incision must be extended superiorly to include all of the involved esophagus, and that preoperative motility studies are helpful in this regard. We did not carry the myotomy high enough in this one case because we did not have preoperative motility tracings. In light of our general experience, I would say that motility studies must be done in every patient. 218 THE ANNALS OF THORACIC SURGERY