Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis.

CLINICAL DATA: Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight. CHEST RADIOGRAPHY: Cardiomegaly with prevalence of pulmonary vascular network. ELECTROCARDIOGRAM: Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block. ECHOCARDIOGRAM: Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs. COMPUTED TOMOGRAPHY: Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis. DIAGNOSIS: Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation. OPERATION: Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis

ABSTRACT Clinical data: Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight. Chest radiography: Cardiomegaly with prevalence of pulmonary vascular network. Electrocardiogram: Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block. Echocardiogram: Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs. Computed tomography: Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis. Diagnosis: Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation. Operation: Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

The association between pro- and anti-inflammatory cytokine polymorphisms and periventricular leukomalacia in newborns with hypoxic-ischemic encephalopathy.

BACKGROUND: Periventricular leukomalacia (PVL) is a frequent consequence of hypoxic-ischemic injury. Functional cytokine gene variants that result in altered production of inflammatory (tumor necrosis factor-alpha [TNF-α] and interleukin-1beta [IL-1ß]) or anti-inflammatory (interleukin-10 [IL-10]) cytokines may modify disease processes, including PVL. OBJECTIVE: The aim of this study was to evaluate if there is a relationship between the two proinflammatory polymorphisms (TNF-α-1031T/C and IL-1ß-511C/T) and the anti-inflammatory polymorphism IL-10-1082G/A and PVL risk in Brazilian newborns with and without this injury. MATERIALS AND METHODS: A cross-sectional case-control study performed at the Neonatal Intensive Care Unit of the Children's Hospital and Maternity of the São José do Rio Preto Medical School (FAMERP). Fifty preterm and term newborns were examined as index cases and 50 term newborns as controls, of both sexes for both groups. DNA was extracted from peripheral blood leukocytes, and the sites that encompassed the three polymorphisms were amplified by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Gestational age ranged from 25 to 39 weeks, in the case group, and in the control group it ranged from 38 to 42.5 weeks (P<0.0001). Statistically significant association was found between TNF-α-1031T/C high expression genotype TC (odds ratio [OR], 2.495; 95% confidence interval [CI], 1.10-5.63; P=0.043) as well as between genotypes (TC + CC) (OR, 2.471; 95% CI, 1.10-5.55; P=0.044) and risk of PVL. Statistically significant association was found between IL-1ß-511C/T high expression genotypes (CT + TT) (OR, 23.120; 95% CI, 1.31-409.4; P=0.003) and risk of PVL. Statistically significant association between IL-10-1082G/A high expression genotype GG (OR, 0.07407; 95% CI, 0.02-0.34; P<0.0001) as well as between IL-10-1082G high expression allele (OR, 0.5098; 95% CI, 0.29-0.91; P=0,030) and PVL reduced risk was observed. There was a statistically significant association between TC/CT/GA genotype combination and the risk of PVL (OR, 6.469; 95% CI, 2.00-20.92; P=0.001). CONCLUSION: There is evidence of an association between the polymorphisms TNF-α-1031T/C, IL-1ß-511C/T, and IL-10-1082G/A and PVL risk in this Brazilian newborn population studied.