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A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.
A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.
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Pectus excavatum is a progressive congenital deformity for which surgical correction is an established procedure. The method of correction using a stainless steel retrosternal bar to maintain the sternum elevated is, in our experience, the most successful procedure. Successful surgical correction usually requires resection of all deformed costal cartilages with transverse osteotomy of the anterior table of the sternum and internal fixation using a bar anterior to the rib cage but behind the sternum. In the last 13 years 118 patients with this deformity have been evaluated and 72 patients have been surgically corrected by the described procedure. Of these 72 patients, 65 (90 percent) have had excellent or good cosmetic and functional results. The best results were obtained when the child was operated on between the ages of 6 and 10 years, the poorest results in those operated on under the age of 3 or over the age of 20. For a satisfactory result the bar must be left in for at least six months; the best results were obtained in those patients in whom the bar was left in for at least one year. No serious complications have followed the use of this technique.
A 48-year-old man with severe pectus excavatum presented with incapacitating supraventricular tachycardia, paroxysmal in nature and invariably provoked by exercise. During mild supine leg exercise on a bicycle ergometer an abnormal increase in right heart pressures, particularly in the right atrium, was observed, followed immediately by supraventricular tachycardia. The latter was also shown during upright exercise on a treadmill. Operative correction of the deformity led to complete relief from the dysrhythmia and a normal haemodynamic response on exercise. The pre- and post-operative studies lend support to the conclusion that the sternal depression was the most likely cause of the cardiac abnormality.
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Two cases of congenital bronchial atresia with pectus excavatum are reported. Costosternal retraction during the efforts to overcome the airway obstruction due to encroachment on normal lung tissue by the hyperinflated segments may play a part in causing pectus excavatum.
Frontal radiographs of two neonates with respiratory distress showed areas of hyperlucency, seemingly caused by abnormal mediastinal collections of air. However, lateral radiographs or direct inspection established that deep sternal depressions caused the hyperlucencies.
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We studied the frequency of pectus excavatum or otherwise abnormally narrowed anterior-posterior thoracic dimension and of thoracic scoliosis among consecutive series of 67 patients with pulmonary disease due to Mycobacterium avium complex and 55 patients with pulmonary Mycobacterium tuberculosis. Among those with M. avium, pectus excavatum and abnormal narrowing was present in 27% and scoliosis was seen in 52%; overall, 47 of the 67 (70%) had one or both of these anomalies. By comparison, of those with M. tuberculosis only 5% had pectus excavatum or abnormal narrowing, only 13% had scoliosis; and none had both. The prevalence of pectus excavatum and abnormal narrowing among female M. avium complex patients was significantly greater than among female tuberculosis patients (p = 0.05) or in the general population (p less than 0.001). Among male M. avium complex patients, pectus excavatum and abnormal narrowing was significantly more common than in the general population (p less than 0.001) but not significantly different than among male tuberculosis patients (p = 0.264). For all M. avium complex versus all M. tuberculosis patients the prevalence of pectus excavatum abnormal narrowing was significantly greater (p = 0.013). Scoliosis was significantly more common among all M. avium complex patients than among M. tuberculosis patients or the general population. We believe that these anomalies, which are associated with a variety of heritable connective disorders, are phenotypic markers of patients who are at increased risk for pulmonary disease due to environmental mycobacteria, such as M. avium complex.
From 1990 to 1998, 30 patients underwent surgery for correction of pectus excavatum. There were 19 (63%) males and 11 (37%) females, aged 4 to 32 years (mean, 12.57 years). Bilateral excision of 4 to 6 costal cartilages and sternal wedge osteotomy were performed on 27 (90%) patients, and Kirschner wires were used for substernal support in 25 (83%). A median sternotomy was carried out in males and a submammary transverse incision was preferred in females. All patients were followed up at yearly intervals. Early results were excellent in all except 2 cases: a 14-year-old boy developed contralateral sternal depression after costochondral excision without sternal elevation for correction of one-sided costochondral hyperplasia; and an 8-year-old girl in whom no Kirschner wires had been inserted developed recurrent minimal sternal depression. Long-term follow-up showed recurrent sternal depression 6 years postoperatively in a boy who had undergone surgery at 4 years old, with early removal of the Kirschner wires. It is recommended that correction of pectus excavatum should be carried out in prepubertal children, and Kirschner wires should be used for substernal support.
The presented case is of a young male (aged 19 yrs) with a pectus excavatum who showed significant exercise intolerance, despite normal pulmonary function at rest, including carbon monoxide diffusing capacity. Clinical exercise testing led to a strong suspicion of a right-to-left shunt due to an abnormally wide alveolo-arterial oxygen gradient (26.4 kPa) at peak oxygen uptake, with severe arterial hypoxaemia (arterial oxygen tension 12.54 kPa). A right-to-left shunt was confirmed by transoesophageal echocardiography demonstrating a permeable foramen ovale, despite normal right heart pressures. The right-to-left venous flow was mainly dependent on the upright body position and the deep inspiration. Indeed, i.v. dobutamine infusion to selectively affect cardiac output and hyperventilation induced by tidal volume expansion at constant breathing rate in the supine position did not result in arterial oxygen desaturation or shunting. Closure of the foramen ovale through atrial umbrella placement dramatically improved clinical and physiological abnormalities. This observation demonstrates that a hyperventilatory manoeuvre in the upright position is able to detect a permeable foramen ovale favouring flow in the inferior vena cava in the direction of the abnormal pre-existing atrial channel in a patient with a pectus excavatum.
In order to obtain further insight into the adaptive mechanisms relating to gas exchange in anatomically small lungs, tests of mechanical lung function and gas exchange were made in an active young man, whose lung growth had been severely impaired due to pectus excavatum developed in childhood. We found our patient to have small (total lung capacity, 59% of predicted) but mechanically normal lungs. He had a normal cardiac output, a normal single-breath diffusing capacity (100% pred), and a high diffusion coefficient (148% pred) associated with a high pulmonary capillary blood volume (131% pred) at rest. Pulmonary distensibility (K) and elastic recoil were normal. During steady-state exercise he was unable to recruit further reserves of pulmonary capillaries, but this was not reflected in a plateau for oxygen consumption, which was presumably the result of an increased pulmonary capillary blood flow rather than volume. The recruitment of pulmonary capillary reserves in this young man has enabled him to maintain a normal maximum exercise capacity. In addition, the high stroke volume and a haemoglobin level in the high normal range (176 g.l-1) may have maintained his maximal exercise function, despite fewer alveolar units. This study suggests that, contrary to previous findings, loss of a major proportion of lung tissue need not impair exercise capacity. Patients with either small lungs or following pneumonectomy may benefit from physical training sufficient to optimize both an increase in cardiac output and recruitment of their existing alveolar capillary reserves.