Search

Background and Aim: Long-term respiratory, gastrointestinal, and vertebral sequelae are common after repair of congenital diaphragmatic defects (CDDs). The aim of this study was to assess the effect of these sequelae on the health-related quality of life (HRQoL) of adult survivors after CDD repair., Materials and Methods: A questionnaire, including 36-Item Health Survey Form (SF-36), 36-item Gastrointestinal Quality of Life Index (GIQLI), 55-item Psychosocial Survey, 9-item survey for Respiratory Symptoms-Related Quality of Life Index, and a symptoms query, was sent to 94 adult survivors of CDD and to 400 healthy control subjects. One SD lower than the age-adjusted national average in the 36-Item Health Survey Form score for physical or mental health was considered as low HRQoL., Results: Sixty-nine patients with CDD (72%) and 162 (41%) control subjects returned the questionnaire. The initial presentation was critical in less than 10% of patients with CDD. Forty-five patients with diaphragmatic hernia had primary closure; in 1 patient with diaphragmatic hernia, a patch was used. Twenty-four patients had plication of diaphragmatic eventration. The incidence of gastroesophageal reflux (20% vs 2%), recurrent intestinal obstruction (7% vs 0%), and recurrent abdominal pain (12% vs 2%) was significantly higher in patients with CDD than in control subjects, whereas no difference in the incidence of respiratory, musculoskeletal, or other health problems not associated with CDD was found. Scores in GIQLI, Psychosocial Survey, and Respiratory Symptoms-Related Quality of Life Index did not differ between patients with CDD and control subjects. Health-related quality of life was low in 17 (25%) of 69 patients with CDD, which exceeded 1.5 times the expected value. There was no correlation between the type or severity of the primary defect and HRQoL at the time of the study., Conclusion: Most adults with repaired CDD have good or satisfactory HRQoL. Congenital diaphragmatic defect-associated symptoms with or without acquired diseases significantly impair HRQoL in one fourth of the patients.

Diaphragmatic hernia was created in 39 rabbit fetuses on day 23 of gestation. Fifteen fetuses underwent a sham thoracotomy (SHAM). Thirty-nine non-operated littermates served as internal controls (CTR). Fetuses were harvested by Caesarean section on days 25, 27, 29 and 30 of gestation. Pulmonary response was evaluated by lung to body weight ratio (LBWR), morphometry, and density of type II pneumocytes. No difference was found between CTR and SHAM fetuses at term. CDH fetuses had smaller lungs (LBWR 0.014 +/- 0.004 versus 0.030 +/- 0.04 in CTR, P < 0.0001), a less complex acinus [mean terminal bronchial density (MTBD) 1.786 +/- 0.408 versus 0.917 +/- 0. 188, P < 0.0001], thicker alveolar septa [mean wall transection length (LMW) 0.0221 +/- 0.008 versus 0.0142 +/- 0.002, P = 0.0003], and a lower type II cell count (144.5 +/- 19.33 versus 216.2 +/- 27.85 per high power field, P < 0.0001). The differences in MTBD and LMW were significant from gestational day 25 onwards, and the differences in type II cell count from day 27 onwards. Surgical diaphragmatic hernia in rabbit fetuses in the late pseudoglandular phase reproduces many features of the pulmonary hypoplasia associated with human congenital diaphragmatic hernia, including the delayed maturation. The effects are present within 2 days following experimental diaphragmatic hernia and progress over time.

Background/purpose: Patients with congenital diaphragmatic hernia (CDH) frequently have associated anomalies. Experiments in the nitrofen CDH model have shown differential embryonic cell death patterns in rodents suggesting unique mechanisms in the formation of right-sided (RCDH) or left-sided (LCDH) diaphragmatic hernia. These findings provide insight into the pathogenesis of CDH and may aid our understanding on the spectrum of associated anomalies commonly observed in humans. This study therefore set out to test the hypothesis that the side of the diaphragmatic defect in humans is related to the incidence and severity of coexistent organ malformations., Methods: The medical and autopsy records of 301 CDH patients presenting to two institutions over a 23-year period were examined to analyze these factors., Results: One hundred patients (33%) were found to have one or more associated anomalies. The incidence of multiple-RCDH (10%) versus LCDH (7.3%) and cardiac anomalies-RCDH (10%) versus LCDH (8.5%) was similar in both groups of patients. However, the hypoplastic heart syndrome was a unique feature in 5 of 22 patients (23%) with LCDH who had cardiac abnormalities. This cardiac anomaly may be related developmentally to LCDH., Conclusion: The cellular mechanisms underlying the genesis of this spectrum of abnormalities in humans and the nitrofen CDH model warrant further study to elucidate factors governing embryonic cell fate and phenotype expression.

Between 1948 and 1980, 107 of 164 patients survived after repair of a congenital diaphragmatic defect. Sixty of the survivors (mean age, 29.6 years; SD, 9.0 years) underwent clinical examination, chest radiography, spirometry, and diffusing capacity measurement 11 to 41 years after the diaphragmatic repair. Twenty-seven of the 60 had body plethysmography, xenon 133 radiospirometry, and a test of bronchial hyperreactivity. Subjective physical performance was below average for eight patients (13%), seven patients (12%) had asthma, and four patients (7%) reported increased susceptibility to respiratory infections. Thirty-one patients (52%) had ventilatory impairment, which was obstructive in nine (15%), restrictive in seven (12%), and obstructive and restrictive in 15 patients (25%). Nine (35%) of the 26 patients tested had bronchial hyperreactivity. The presence of ventilatory impairment and bronchial hyperreactivity correlated with the initial clinical severity of the affliction. Chest asymmetry (29 patients; 48%) and scoliosis (16 patients; 27%) were more common among patients with ventilatory impairment than among those with normal spirometric findings. Ventilatory impairment and thoracic deformities are common in adults with repaired diaphragmatic defects. Surveillance should begin in infancy and continue into adulthood.