Congenital Heart Disease
22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.
Alagille syndrome is a multi-system genetic disorder that can affect the liver, heart, and other parts of the body. It’s characterization includes heart problems, liver damage, jaundice, and xanthomas. Here is the latest research.
Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.
Arrhythmogenic right ventricular dysplasia is a congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the right ventricle wall and loss of myocardial cells. Primary injuries usually are at the free wall of the right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. Discover the latest research on arrhythmogenic right ventricular dysplasia here.
Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.
Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.
Cardiac regeneration enables the repair of irreversibly damaged heart tissue using cutting-edge science, including stem cell and cell-free therapy. Discover the latest research on cardiac regeneration here.
Congenital heart diseases are present since birth and are a result of improper development of the heart. Prenatal diagnosis on screening ultrasound can detect these defects and better techniques for surgical repair have improved the life expectancy of those born with these diseases. Discover the latest research on congenital heart diseases here.
Coronary vessel anomalities are malformations of the coronary vessel, either arteries or veins. Discover the latest research on coronary vessel anomalities here.
Patent ductus arteriosus is a congenital heart defect in which the ductus arteriosus fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which has a higher pressure, to the pulmonary artery. Discover the latest research on patent ductus arteriosus here.
Endocardial fibroelastosis is a disease characterized by a prominent proliferation of dense collagenous and elastic tissue in the endocardium with the occurrence of congestive heart failure and death in early life. Here is the latest research.
Gene therapy is emerging as a potential strategy for the treatment of cardiovascular diseases, such as peripheral arterial disease, ischemic heart disease, restenosis after angioplasty, vascular bypass graft occlusion and transplant-associated coronary artery disease. Discover the latest research on gene therapy for cardiovascular diseases here.
Understanding the genetic regulation of cardiac development and function is crucial in generating future therapeutics for cardiovascular diseases. Discover the latest research on Genetic Regulation of Heart Development & Function here.
Genome editing is a powerful tool to study specific mutations or genes involved in the development and progression of cardiovascular disease. Discover the latest research on Genome Editing in Cardiovascular Disease here.
Heart septal defects occur when the walls separating the different chambers of the heart are not completely closed off, leaving holes that can potentially lead to heart failure. Discover the latest research on heart septal defects here.
Heterotaxy syndrome is a rare condition in which abdominal organs are formed in abnormal locations within the chest cavity. Discover the latest research on heterotaxy syndrome here.
Recent surgical advances have led to an increase in the survival rates of infants born with hypoplastic left heart syndrome, which is the incomplete formation of the left side of the heart. Discover the latest research here.
Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Here is the lastest research.
Kartagener syndrome is an autosomal recessive disorder characterized by situs inversus, chronic sinusitis, and bronchiectasis. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and cilia in the respiratory and the reproductive tracts. Discover the latest research on Kartagener syndrome here.
Marfan syndrome is an autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton. It is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. Discover the latest research on Marfan syndrome here.
Noonan Syndrome is a genetic disorder characterized by unusual facial features, heart defects and other phenotypes. Mutations in the RAS/MAPK signaling pathway account for the majority of cases. Discover the latest research on Noonan Syndrome here.
Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.
Tetralogy of Fallot is a congenital heart defect with an unknown cause which is typically treated by open heart surgery in the first year of life. Symptoms include bluish skin colour, heart murmur, and finger clubbing. Here is the latest research.
Transposition of Great Vessels is a congenital heart defect in which the positions of the pulmonary artery and aorta are switched. Surgery is used to correct this defect in newborns. Discover the latest research on Transposition of Great Vessels here.
Turner syndrome is a syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated gonads (streak gonads), sexual infantilism, hypogonadism, webbing of the neck, cubitus valgus, elevated gonadotropins, decreased estradiol level in blood, and congenital heart defects. Discover the latest research on Turner syndrome here.