Clinical manifestations in patients with DGS
| Systems . | Major (signs/symptoms) . | N (%) . | Minor (signs/symptoms) . | N (%) . |
|---|---|---|---|---|
| Cardiovascular | Normal heart | 161 (35.3) | VSD | 100 (33.9) |
| Congenital heart disease | 295 (64.7) | Atrial septal defect | 16 (5.4) | |
| Conotruncal anomalies | 226 (76.6) | VSD, ASD | 28 (9.5) | |
| Tetralogy of Fallot | 58 (19.6) | PDA | 29 (9.8) | |
| Pulmonary valve stenosis/atresia | 46 (15.6) | PFO | 10 (3.4) | |
| Coarctation of the aorta | 3 (1) | Right-sided aortic arch | 31 (10.5) | |
| Vascular ring | 15 (5) | Right-sided aortic arch, aberrant subclavian artery | 15 (5) | |
| Aberrant subclavian artery | 12 (4) | |||
| Single coronary artery origin from right coronary sinus | 2 (0.7) | |||
| Left superior vena cava | 4 (1.3) | |||
| Dilated coronary venus | 1 (0.3) | |||
| MAPCAs | 21 (7.1) | |||
| Palatal and ear-nose-throat | Palatal anomalies | 222 (48) | Hypernasal/hyponasal speech | 35 (7.8) |
| Laryngotracheoesophageal anomalies | 51 (11.3) | Swallowing difficulties | 17 (3.8) | |
| Laryngeal web/subglottic stenosis/laryngeal atresia | 21 (4.7) | Risk of aspiration | 9 (2) | |
| Tracheomalacia/laryngomalacia | 30 (6.7) | Nasal regurgitation | 32 (7.1) | |
| Tracheoesophageal fistula | 5 (1.1) | Recurrent or chronic otitis media with effusion | 146 (32.5) | |
| Obstructive sleep apnea | 15 (3.3) | Hearing loss | 104 (23.2) | |
| Adenoidectomy/tonsillectomy | 28 (6.2) | Conductive defect | 97 (21.6) | |
| Mixed defect | 4 (0.9) | |||
| Sensorineural hearing loss | 3 (0.7) | |||
| Nasal polyposis | 1 (0.2) | |||
| Vocal cord palsy/dysphonia | 11 (2.4) | |||
| Absent nose and nostrils/choanal atresia | 2 (0.4) | |||
| Gastrointestinal | Feeding difficulties | 107 (24.1) | Constipation | 145 (32.7) |
| Gastrostomy | 36 (8.1) | GERD | 123 (27.8) | |
| Nissen fundoplication | 14 (3.2) | Recurrent vomiting | 10 (2.3) | |
| Food allergies | 10 (2.3) | Recurrent abdominal pain | 14 (3.2) | |
| Eosinophilic colitis | 3 (0.7) | Chronic diarrhea | 4 (0.9) | |
| Inflammatory bowel disease | 3 (0.7) | |||
| Umbilical hernia | 12 (2.7) | |||
| Esophageal atresia + duodenal atresia | 2 (0.45) | |||
| Anorectal malformations | 9 (2) | |||
| Anterior anus | 2 (0.45) | |||
| Imperforate anus | 4 (0.9) | |||
| Hirschsprung disease | 1 (0.2) | |||
| Anal prolapse | 1 (0.2) | |||
| Anal stenosis | 1 (0.2) | |||
| Diaphragmatic hernia | 2 (0.45) | |||
| Intestinal malrotation | 2 (0.45) | |||
| Pyloric stenosis | 1 (0.2) | |||
| Meckel diverticulum | 1 (0.2) | |||
| Necrotizing enterocolitis | 3 (0.7) | |||
| Intestinal pseudo-obstruction | 1 (0.2) |
| Systems . | Major (signs/symptoms) . | N (%) . | Minor (signs/symptoms) . | N (%) . |
|---|---|---|---|---|
| Cardiovascular | Normal heart | 161 (35.3) | VSD | 100 (33.9) |
| Congenital heart disease | 295 (64.7) | Atrial septal defect | 16 (5.4) | |
| Conotruncal anomalies | 226 (76.6) | VSD, ASD | 28 (9.5) | |
| Tetralogy of Fallot | 58 (19.6) | PDA | 29 (9.8) | |
| Pulmonary valve stenosis/atresia | 46 (15.6) | PFO | 10 (3.4) | |
| Coarctation of the aorta | 3 (1) | Right-sided aortic arch | 31 (10.5) | |
| Vascular ring | 15 (5) | Right-sided aortic arch, aberrant subclavian artery | 15 (5) | |
| Aberrant subclavian artery | 12 (4) | |||
| Single coronary artery origin from right coronary sinus | 2 (0.7) | |||
| Left superior vena cava | 4 (1.3) | |||
| Dilated coronary venus | 1 (0.3) | |||
| MAPCAs | 21 (7.1) | |||
| Palatal and ear-nose-throat | Palatal anomalies | 222 (48) | Hypernasal/hyponasal speech | 35 (7.8) |
| Laryngotracheoesophageal anomalies | 51 (11.3) | Swallowing difficulties | 17 (3.8) | |
| Laryngeal web/subglottic stenosis/laryngeal atresia | 21 (4.7) | Risk of aspiration | 9 (2) | |
| Tracheomalacia/laryngomalacia | 30 (6.7) | Nasal regurgitation | 32 (7.1) | |
| Tracheoesophageal fistula | 5 (1.1) | Recurrent or chronic otitis media with effusion | 146 (32.5) | |
| Obstructive sleep apnea | 15 (3.3) | Hearing loss | 104 (23.2) | |
| Adenoidectomy/tonsillectomy | 28 (6.2) | Conductive defect | 97 (21.6) | |
| Mixed defect | 4 (0.9) | |||
| Sensorineural hearing loss | 3 (0.7) | |||
| Nasal polyposis | 1 (0.2) | |||
| Vocal cord palsy/dysphonia | 11 (2.4) | |||
| Absent nose and nostrils/choanal atresia | 2 (0.4) | |||
| Gastrointestinal | Feeding difficulties | 107 (24.1) | Constipation | 145 (32.7) |
| Gastrostomy | 36 (8.1) | GERD | 123 (27.8) | |
| Nissen fundoplication | 14 (3.2) | Recurrent vomiting | 10 (2.3) | |
| Food allergies | 10 (2.3) | Recurrent abdominal pain | 14 (3.2) | |
| Eosinophilic colitis | 3 (0.7) | Chronic diarrhea | 4 (0.9) | |
| Inflammatory bowel disease | 3 (0.7) | |||
| Umbilical hernia | 12 (2.7) | |||
| Esophageal atresia + duodenal atresia | 2 (0.45) | |||
| Anorectal malformations | 9 (2) | |||
| Anterior anus | 2 (0.45) | |||
| Imperforate anus | 4 (0.9) | |||
| Hirschsprung disease | 1 (0.2) | |||
| Anal prolapse | 1 (0.2) | |||
| Anal stenosis | 1 (0.2) | |||
| Diaphragmatic hernia | 2 (0.45) | |||
| Intestinal malrotation | 2 (0.45) | |||
| Pyloric stenosis | 1 (0.2) | |||
| Meckel diverticulum | 1 (0.2) | |||
| Necrotizing enterocolitis | 3 (0.7) | |||
| Intestinal pseudo-obstruction | 1 (0.2) |
ASD, atrial septal defect; MAPCA, major aortopulmonary collateral artery; PDA, patent ductus arteriosus; PFO, patent foramen ovale; VSD, ventricle septal defect.