Clinical Research Directory

Heart Problems in Children With Chronic Liver Disease

Chronic liver disease (CLD) in children can sometimes lead to complications in other parts of the body, including the heart. The primary purpose of this observational study is to assess the presence and type of cardiac problems in children who have been diagnosed with chronic liver disease. Researchers will observe children under the age of 18 who are receiving care at the gastroenterology and hepatology unit at Assiut University Children Hospital. Participants will undergo standard medical evaluations to check both their liver and heart health. These evaluations include: * A detailed medical history and thorough physical examination * Routine blood tests to check liver function, kidney function, coagulation, and electrolytes * Abdominal imaging, such as an ultrasound, to look at the liver. * An electrocardiogram (ECG) to check the heart's electrical activity and rhythm, including measuring the QTc interval. * An echocardiogram to look at the structure of the heart and check how well its chambers and valves are functioning. The study aims to identify specific heart conditions that can be associated with severe liver disease, such as portopulmonary hypertension, cirrhotic cardiomyopathy (changes in the heart muscle's function), and electrical repolarization abnormalities. Children who already have known congenital heart disease or a history of other heart problems will not be included in the study.

Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation. Such liver bypass can cause several health problems, one of the most severe being portopulmonary hypertension (PoPH). The goal of this study is to identify pathogenic and potentially pathogenic genetic variants in patients who have both CPSS and PoPH. Future research will assess the contribution of these genetic variants to the development of PoPH. The long-term goal is to use genetic information to identify patients with congenital portosystemic shunts (CPSS) or chronic liver disease who are at risk of developing PoPH to offer anticipatory management. Children and adult patients with both CPSS and PoPH, as well as their close relatives (patient's parents and siblings) can take part in the study. Genetic variations within each family will be studied.