Update on congenital heart disease and sudden infant/perinatal death: from history to future trends

Abstract

During the 20th century, expert pathologists contributed an in-depth characterisation of the anatomical pathology and associated pathophysiology of congenital heart disease (CHD). Starting in the 1970s, the reported CHD birth prevalence has been increasing, owing to advances in diagnostic methods. Over the years, surgical treatments have been associated with an enormous reduction of CHD mortality. Advances also have been made in understanding the developmental biology and molecular pathogenesis of CHD. In developed countries, sudden infant death syndrome (SIDS) is the most frequent form of death during the first year of life, with a death rate of 0.42 every 1000 births. Unexpected stillbirth has a six- to eightfold greater incidence than that of SIDS and remains unexplained in 40-80% of cases even after autopsy. Specific environmental risk factors, such as maternal smoking, air and water pollution, food contamination, pesticides, etc, can interact with the genetic constitution in complex ways, which may lead to polymorphisms and/or mutations of specific genes, such as polymorphisms in the serotonin transporter gene , the regulator of the synaptic serotonin concentration. Current directions of research in this area are reviewed.

The Importance of the Autopsy in Medicine: Perspectives of Pathology Colleagues

“…This achievement can be attributed to the contributions of pathologists whose expertise provided in-depth characterization of the anatomic changes that were associated with the pathophysiologic consequences of the congenital heart defects that were observed by studying autopsy specimens. 22 First, Maude Abbott and then Maurice Lev and Jesse Edwards were important early contributors to publications documenting the pathology and pathophysiology of congenital heart disease. 22 A specific example of the importance of their contributions is as follows.…”

“… 22 First, Maude Abbott and then Maurice Lev and Jesse Edwards were important early contributors to publications documenting the pathology and pathophysiology of congenital heart disease. 22 A specific example of the importance of their contributions is as follows. Abbott had discussions with Helen Tausig that led to the development of the concept that a shunt could be created between the pulmonary artery and aorta to relieve the pulmonary hypoperfusion in “blue” babies with the tetralogy of Fallot, which resulted in the Blalock-Taussig shunt to correct this defect.…”

Hand Factors in Cardiac Development

“…Congenital heart defects (CHDs) are the leading complication in pediatric mortalities (Ottaviani & Buja 2017). CHDs result from defects, genetic or environmental, of the developing heart in the first trimester of pregnancy.…”

Factors Influencing Physical Activity in Adolescents with Complex Congenital Heart Disease

“…According to a 2017 report by the American Heart Association (AHA), mortality rates from complex congenital heart diseases have decreased by 22% since 1979. Advanced techniques to detect cardiac lesions, improved diagnosis and management strategies, and surgical interventions have contributed to higher survival rates of infants with congenital heart disease through adulthood [3,4]. Although infant survival rates have increased, the incidence of long-term arrhythmia and cardiac insufficiency has increased among survivors previously diagnosed with congenital heart disease.…”