BackgroundAbernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. Children with Abernathy malformation can develop hepatopulmonary syndrome (HPS) with pulmonary arteriovenous fistulas (PAVF) or pulmonary hypertension. PAVF manifests as central cyanosis with effort intolerance. We report a case of PAVF in a Ten-year-old Boy. Persistent symptoms identified Abernathy malformation as the cause of progressive symptoms and current understanding of this rare malformation is reviewed.Case presentationA case of 10-year-old boy with Abernethy malformation complicated with HPS initially managed as PAVF was presented. Selective lung angiography showed a typical diffuse reticular pattern on right lower lung, which suggested PAVF. However, cyanosis was not improved post transcatheter coil embolization. Then, liver disease was considered although the patient had normal aspartate aminotransferase and alanine aminotransferase. The significantly elevated serum ammonia was attracted our attention. Abdominal computed tomography also exhibited enlarged main portal vein (MPV), cirsoid spleen vein, and superior mesenteric vein (SMV). Angiography with direct opacification of the SMV with a catheter coming from the inferior vena cava (IVC) and going to the SMV via the shunt vessel (SHUNT) between the MPV and IVC. Occlusion the IVC with an inflated balloon, injection of contrast medium via a catheter placed in the SMV, MPV was showed and absence of intrahepatic branches. Abernethy malformation IB type is finally confirmed.ConclusionsAbernethy malformation is an unusual cause for development of PAVF and cyanosis in children. Clinicians must be suspicious of Abernethy malformation complicated with HPS. If patients have abnormal serum ammonia and enlarged MPV in abdominal CT, cathether angiography should be done to rule out Abernethy malformation.
Sudden cardiac death (SCD) caused by ventricular arrhythmias is the leading cause of mortality of cardiovascular disease. Mutation in TECRL, an endoplasmic reticulum protein, was first reported in catecholaminergic polymorphic ventricular tachycardia during which a patient succumbed to SCD. Using loss- and gain-of-function approaches, we investigated the role of TECRL in murine and human cardiomyocytes. Tecrl (knockout, KO) mouse shows significantly aggravated cardiac dysfunction, evidenced by the decrease of ejection fraction and fractional shortening. Mechanistically, TECRL deficiency impairs mitochondrial respiration, which is characterized by reduced adenosine triphosphate production, increased fatty acid synthase (FAS) and reactive oxygen species production, along with decreased MFN2, p-AKT (Ser473), and NRF2 expressions. Overexpression of TECRL induces mitochondrial respiration, in PI3K/AKT dependent manner. TECRL regulates mitochondrial function mainly through PI3K/AKT signaling and the mitochondrial fusion protein MFN2. Apoptosis inducing factor (AIF) and cytochrome C (Cyc) is released from the mitochondria into the cytoplasm after siTECRL infection, as demonstrated by immunofluorescent staining and western blotting. Herein, we propose a previously unrecognized TECRL mechanism in regulating CPVT and may provide possible support for therapeutic target in CPVT.
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