TABLE II.
Clinical Features
| Pt | CDH | Cardiac phenotype | Neurodevelopment | Dysmorphic features | Miscellaneous findings | Outcome, age at follow up | Prior description of patient |
|---|---|---|---|---|---|---|---|
| 1 | L Hernia | LSVC to coronary sinus | Peri-ventricular leukomalacia (possibly secondary) | None | Wt <10th, HC =10th, Lt =25th | Deceased | No |
| 2 | L Hernia | None | None | None | – | Deceased | Srisupundit et al. [2010] |
| 3 | L Hernia | None | Macrocephaly, Expressive language delay, Motor skill delay | None | Wt =10th, HC ≫ 95th, Lt =3rd | 12 MOB | No |
| 4 | L Hernia | ASD nos | None | None | Growth retardation | Unknown | Shimokawa et al. [2005] |
| 5 | L Hernia | HLHS, CoA, ASD | None | None | – | Deceased (NND) | No |
| 6 | Morgagni | ASD nos, PSV, MVR | Microcephaly, Sz, DD, Autism | Yes (unspecified) | – | 4 YOB | No |
| 7 | L Eventr. | CAVC, PSV, LSVC (UCS), CA, Azygous Continuation of the IVC | DD, Autism, Self-Stimulatory Behaviors | Mild (cup shaped ears, anteverted nares, short columella) | Wt =95th, Lt =75th, OFC <2nd | 3 YOB | No |
| 8 | L Hernia | ASD nos | Dilated ventricles | Yes (CDLS-like) | Chylothorax, Long narrow digits | Deceased | Baynam et al. [2008] |
| 9 | L Agenesis | CAVC, CA | – | – | – | TOP | No |
| 10 | No | ASD2 | Microcephaly, Sz, DD, Middle Cerebral Artery CVA, | Yes (unspecified) | Scoliosis | 39 YOB | No |
| 11 | No | None | Sz, IQ =62, BP | None | HC =25–50th, Cryptorchidism | 9 YOB | Fryns et al. [1989], Devriendt et al. [1999] |
| 12 | No | CAVC, LAI, LSVC, APVR, Hemiazygous Continuation of the IVC, CoA | Mild cortical dysplasia (L frontal, parasagittal regions) (MRI) | Mild (short palpebral fissures, pointed chin) | WT =30th, Lt =30th, OFC =15th, Congenital L ptosis, Hypoplasia of posterior semicircular canals (normal hearing) | 4 MOB | No |
| 13 | No | Heterotaxy Spectrum Defect | Microcephaly, DD, Hypotonia | Mild (low set ears, hypertelorism, broad nasal bridge, pointed chin) | Scrotal Hypoplasia | 3 YOB | No |
| 14 | No | Ebstein anomaly, VSD, ASD nos, LSVC, Hemiazygous Continuation of the IVC | Microcephaly, DD, EEG-WNL | Yes (CDLS-like) | Duplicated L kidney, Gastro-Esophageal Reflux | 19 MOB | No |
| 15 | No | ASD2, PSV | Hypotonia, IQ =65 | Yes (unspecified) | Wt =50th, HC =10th, Ht =50th | 6 YOB | No |
| 16 | No | ASD2, PSV | BP, IQ =66 | None | Wt <10th, HC <10th, Ht <10th, Hypernasal speech | 8 YOB | Devriendt et al. [1995, 1999] |
| 17 | No | CAVC, PSV, HRV, AVS, LAI Azygous Continuation of the IVC, LAI | Sz, BP, IQ =64 | None | HC =3rd, Wt <10th, Ht =10–25th Cryptorchidism, Gut malrotation | 11 YOB | Claeys et al. [1997], Devriendt et al. [1999] |
| 18 | No | ASD2, PSV | IQ =73, BP | None | Wt <10th, HC <10th, Ht <10th, External ear anomaly | 17 YOB | Devriendt et al. [1999] |
| 19 | No | ASD nos, LSVC | Microcephaly, Fronto-parietal subcortical white matter lesions (MRI), Abnormal sharp-slow waves (EEG), DD, ADHD, Sleep disturbance | Yes (unspecified) | Wt <4th, HC <4th, Ht <4th | 10 YOB | No |
ASD, atrial septal defect; ASD2, atrial septal defect (Ostium Secundum); APVR, abnormal pulmonary venous return; AVS, aortic valve stenosis; BP, behavior problem; CA, common atrium; CAVC, complete atrioventricular canal; CoA, coarctation of the aorta; DD, developmental delay; EEG, electroencephalography; HLHS, hypoplastic left heart syndrome; HC, head circumference; Ht, height; IVC, inferior vena cava; L, left; LAI, left atrial isomerism; Lt, length; LSVC, left superior vena cava; MOB, months-of-birth; NDD, neo-natal death; OFC, occipito-frontal circumference; PSV, pulmonary valve stenosis; R, right; Sz, seizures; TOP, termination-of-pregnancy; UCS, unroofed coronary sinus; WNL, within normal limits; Wt, weight; YOB, years-of-birth.