Outcomes of coronary artery obstructions after the arterial switch operation for transposition of the great arteries.

Objective: Coronary obstruction is a rare but common complication of the arterial switch operation for transposition of the great arteries. The majority of patients remain asymptomatic and no risk factors allow targeting for reinforced surveillance. We aim to review the natural history of patients diagnosed with coronary obstruction after arterial switch operation for transposition of the great arteries and occurrence of coronary-related outcomes.

Epigenetics and Congenital Heart Diseases.

Congenital heart disease (CHD) is a frequent occurrence, with a prevalence rate of almost 1% in the general population. However, the pathophysiology of the anomalous heart development is still unclear in most patients screened. A definitive genetic origin, be it single-point mutation or larger chromosomal disruptions, only explains about 35% of identified cases.

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of congenital heart disease (i.e., pulmonary valve stenosis, septal defects, left-sided lesions, and complex forms with multiple anomalies).

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to parathyroid hormone (PTH) resistance, PHP1A and PHP1B patients may display early-onset obesity.