Table 1.
Anomalies associated with congenital portosystemic shunts. Number of cases reported in type 1 and 2 Abernethy syndrome
| Type of alteration | Abernethy type 1 (182 cases) | Abernethy type 2 (132 cases) |
|---|---|---|
| Cardiac anomalies | ||
| Atrial or ventricular or atrioventricular septal defect | 29 | 21 |
| Patent foramen ovale or patent ductus arteriosus | 9 | 11 |
| Dextrocardia or mesocardia | 2 | – |
| Congenital valvulopathy | 7 | 5 |
| Transposition of the great arteries or Tetralogy of Fallot | 6 | 1 |
| Coarctation of the aorta | 6 | 1 |
| Others (endocardial cushion defects, interauricular communication, hypertrophic cardiomyopathy unspecified) | 6 | 3 |
| Associated liver diseases | ||
| Biliary atresia | 9 | 1 |
| Congenital choledochal cyst/Caroli’s disease | 1 | 3 |
| Congenital hepatic fibrosis | 1 | 1 |
| Esophageal varices, splenomegaly | 7 | 2 |
| Intrahepatic gallbladder | – | 1 |
| Hepatic nodules | ||
| Focal nodular hyperplasia | 40 | 10 |
| Liver cell adenoma | 14 | 4 |
| Nodular regenerative hyperplasia | 24 | 7 |
| Hemangioma | 5 | 1 |
| Hepatoblastoma | 4 | 3 |
| Hepatocellular carcinoma | 13 | 5 |
| Hepatocellular-cholangiocarcinoma | 1 | – |
| Unspecified | 8 | 6 |
| Shunt complication | ||
| Portopulmonary hypertension | 15 | 11 |
| Portopulmonary syndrome | 10 | 22 |
| Portosystemic encephalopathy | 15 | 16 |
| Portosystemic collateral veins (gastrointestinal bleeding, hematuria, vaginal bleeding) | 8 | 7 |
| Endocrino-metabolic disorders | ||
| Hyperinsulinemic hypoglycemia | 5 | 1 |
| Early pubarche, primary amenorrhoea, virilization | 4 | – |
| Congenital adrenal hyperplasia | 1 | – |
| Hypergalactosemia | 9 | 1 |
| Hypothyroxinemia | 1 | 1 |
| Other developmental anomalies | ||
| Polysplenia/asplenia | 15 | 8 |
| Situs inversus/heterotaxia | 9 | 2 |
| Other vascular anomalies (double, left-sided, agenesia or stenosis of inferior vena cava; azygos/hemiazygos continuation of the inferior vena cava, 2 splenic veins, double aortic arch, pulmonary artery stenosis, intrapulmonary shunts, artery aneurism) | 15 | 19 |
| Gastrointestinal anomalies (intestinal malrotation, esophageal and anal atresia, tracheoesophageal fistula) | 7 | 8 |
| Urogenital system anomalies (cystic kidney dysplasia, ureteropelvic obstruction, crossed renal ectopia with vesicoureteral reflux, hypospadias, renal agenesis, hydronephrosis, varicocele) | 9 | 8 |
| Skeletal anomalies (short 5th fingers and toes, hypoplasia of the thumb, absence of the first metacarpophalangeal complex, polydactyly, arachnodactyly, clinodactyly, sacral anomalies, facial dysmorphism, dolicocephalia, tarsal synostosis, clavicle agenesis, hip dysplasia, scoliosis, hemivertebra) | 18 | 1 |
| Bronchopulmonary malformations (bronchomalacia, bronchial stenosis, laryngomalacia, tracheal diverticulum, lobar pulmonary sequestration) | 5 | – |
| Skin hemangiomas/telangiectasias | 4 | 3 |
| Mental retardation, microcephaly | 14 | 12 |
| Growth retardation | 2 | 1 |
| Genetic diseases | ||
| Down syndrome | 3 | 2 |
| Turner syndrome | 5 | – |
| Goldenhar syndrome | 3 | – |
| Others (Costello syndrome, Trisomy 8, Ataxia-telangiectasia syndrome, Holt–Oram syndrome, Noonan syndrome, Klippel–Trenaunay–Weber syndrome, Adams–Oliver syndrome) | 3 | 4 |