Snapshot A newborn girl is born to a 30-year-old mother without complications. On the second day of life, the infant is noted to be mildly cyanotic with an oxygen saturation of 92%. The next day, she is more lethargic than usual with poor feeding. On physical exam, she has increased tachypnea, sternal retractions, and nasal flaring. Cardiac exam reveals that she is tachycardic and has a single and loud 2nd heart sound with a systolic ejection click. She also has a high-pitched diastolic murmur. A chest radiograph shows cardiomegaly and increased pulmonary vasculature. An echocardiogram confirms the diagnosis. (Persistent truncus arteriosus). 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 Clinical presentation early cyanosis, resulting in “blue babies” soon after birth depending on severity and type of the defect, cyanosis may not be apparent 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 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 vasculatureTreatmentprostaglandin 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 the 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 the 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