Snapshot A newborn boy is born to a 25-year-old mother and noted immediately to be cyanotic. She had no prenatal care during her pregnancy. She has a past medical history of bipolar disorder and takes lithium inconsistently. However, she believes that she did take it during the pregnancy. On physical exam, the newborn has a holosystolic murmur. An echocardiogram reveals atrialization of the right ventricle and downward displacement of the tricuspid valve, as well as tricuspid regurgitation. (Ebstein anomaly) Introduction Cyanotic heart diseases 5 T’s Truncus arteriosus (1 vessel) Transposition of the great vessels (2 vessels are switched) Tricuspid atresia (3 = tri) Tetralogy of fallot (4 = tetra) Total anomalous pulmonary venous return (TAPVR = 5 letters) Ebstein anomaly may require atrial septal defect (ASD), ventricular septal defect (VSD), or patent ductus arteriosus (PDA) to survive Other Cyanotic Congenital Heart DefectsHeart DiseasePathogenesisClinical PresentationDiagnosisNotesTruncus arteriosusSingle large vessel arising from the heart and supplying the body with mixed blood (oxygenated and deoxygenated blood)secondary to failure of the aorticopulmonary septum to formSystolic ejection murmur with thrillSingle S2 heart soundHigh-pithced diastolic murmurInitially only minimal cyanosisChest radiographcardiomegaly↑ pulmonary vasculatureAssociated with DiGeorge syndromeTreatmentcorrective surgeryTricuspid atresiaNo tricuspid valveHypoplastic right ventricleRequires patent foramen ovale, ASD, or VSDSevere cyanosis at birthIncreased left ventricular impulseHolosystolic murmurChest radiograph↓ pulmonary vasculatureElectrocardiogramtall P-wavesleft axis deviationTreatmentprostaglandin E1corrective surgeryTotal anomalous pulmonary venous return (TAPVR)Pulmonary veins drain into right heart circulationASD orPDA allows for right-to-left shunting to maintain cardiac outputPulmonary hypertensionCyanosis depends on severity of obstructionChest radiographcardiomegalycardiac shadow has "snowman" appearance↑ pulmonary vasculatureTreatmentprostaglandin E1emergent corrective surgery in severe casesEbstein anomalyCharacterized by a downardly displaced tricuspid valve, resulting in an enlarged right atriumIncreased right atrial pressure shunts blood to the left heart via te foramen ovale or ASD, leading to cyanosisTricuspid regurgitationMay present with cyanosis in newborns or present later in lifeHolosystolic murmurRight heart failureChest radiographcardiomegaly↓ pulmonary vasculatureAssociated withlithium exposure in uteroTreatmentprostaglandin E1corrective surgery Presentation Early cyanosis, resulting in “blue babies” soon after birth depending on severity and type of the defect, cyanosis may not be apparently immediately after birth Symptoms of congenital heart disease tachypnea feeding difficulties failure to thrive cyanosis heart failure Imaging Chest radiography findings vary based on lesion (see chart below) Echocardiogram gold standard for diagnosis