CHD Group Presentations Notetaking Chart

A comprehensive set of vocabulary flashcards covering key concepts related to congenital heart diseases and associated syndromes.

Fetal Alcohol Syndrome

Condition resulting from prenatal alcohol exposure, characterized by CNS defects, growth deficiency, and characteristic facial features.

Maternal Screening Tests

Tests to assess the risk of birth defects and genetic conditions in pregnancy, including non-invasive procedures like NIPT.

Pulse Oximetry

Screening test for critical CHD in newborns, assessing oxygen saturation to reduce infant death.

Trisomy 13 (Patau Syndrome)

Genetic condition caused by an extra copy of chromosome 13, leading to severe physical and mental abnormalities.

Trisomy 18 (Edwards Syndrome)

Condition caused by an extra copy of chromosome 18, often resulting in severe developmental issues and high mortality.

Trisomy 21 (Down Syndrome)

Most common chromosomal disorder characterized by an extra copy of chromosome 21, leading to various development delays.

Marfan Syndrome

Genetic disorder affecting connective tissue, associated with tall stature and cardiovascular issues.

Turner Syndrome

Genetic disorder resulting from a missing X chromosome, affecting females, characterized by short stature and heart defects.

Noonan Syndrome

Genetic disorder impacting development and physical characteristics, often associated with congenital heart defects.

DiGeorge Syndrome

Disorder linked to deletion on chromosome 22, causing multiple abnormalities including heart defects and immune deficiency.

Williams Syndrome

Condition caused by deletion of genes on chromosome 7, characterized by distinctive facial features and heart defects.

Holt-Oram Syndrome

Genetic condition causing upper limb and heart abnormalities, often associated with mutations in the TBX5 gene.

Kartagener Syndrome

Condition caused by Primary Ciliary Dyskinesia, associated with abnormalities in cilia function and heart positioning.

Pediatric Cardiac Tumors

Abnormal growths in the heart, often linked with genetic conditions, can lead to heart failure and arrhythmias.

Romano-Ward Syndrome

Most common form of Long QT Syndrome caused by genetic mutations, characterized by prolonged QT intervals.

Jervell & Lange-Nielsen Syndrome

Severe form of LQTS associated with congenital deafness and higher risk of cardiac events.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Inherited cardiac condition triggered by stress/exercise, leading to syncope and sudden cardiac death.

Brugada Syndrome

Genetic disorder associated with characteristic ECG changes and risk of sudden cardiac death.

Short QT Syndrome

Condition caused by mutations in potassium channels, leading to rapid repolarization and risk of arrhythmias.

Infective Endocarditis

Bacterial infection leading to inflammation of heart tissue, associated with various systemic symptoms.

Kawasaki Disease

Unknown condition causing vasculitis in children, characterized by persistent fever and risk of coronary artery aneurysms.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC)

Genetic heart condition characterized by fibrofatty replacement of myocardial tissue, leading to arrhythmias.

Familial Hypertrophic Cardiomyopathy (HCM)

Genetic condition resulting in abnormal thickening of the heart muscle, common cause of sudden death in young athletes.