Acyanotic Heart Disease With Increased Vascularity
Alexander J. Towbin, MD
DIFFERENTIAL DIAGNOSIS
Common
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Patent Ductus Arteriosus (PDA)
Less Common
Atrioventricular Septal Defect (AVSD)
Partial Anomalous Pulmonary Venous Return
Rare but Important
Hemangioendothelioma
Vein of Galen Aneurysmal Malformation
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
Increased vascularity seen with left-to-right shunts
Shunt causes volume overload of right heart, which leads to increased blood flow to pulmonary arteries
Left-to-right shunts can have cardiac and extracardiac causes
Small left-to-right shunts are often asymptomatic
Eisenmenger syndrome results from long-term left-to-right shunt
Elevated pulmonary artery pressure → reversal of shunt, oxygen desaturation, and cyanosis
Helpful Clues for Common Diagnoses
Atrial Septal Defect (ASD)
2nd most common isolated congenital heart defect (CHD) after bicuspid aortic valve
Accounts for up to 30% of CHD
More common in females
3 types: Secundum, primum, and sinus venosus
Secundum is most common (92.5%)
Secundum ASDs < 3 mm close spontaneously by 18 months
Secundum ASDs > 6-7 mm require follow-up echocardiography until age 4-5
If not closing, then surgical or interventional closure needed
On MR, secundum ASD can be differentiated from normal wall thinning by thickening at edge of defect
Primum ASDs are associated with atrioventricular valve abnormalities
Sinus venosus ASD is associated with anomalous pulmonary venous connection
ASDs have fixed and split-second heart sound
Ventricular Septal Defect (VSD)
Most common CHD in children
VSD occurs in 50% of children with CHD
VSD is isolated defect in 20% of children with CHD
2 main locations: Membranous or muscular septum
Membranous defects account for 70% of VSDs
Multiple defects can be present
Associated with Down syndrome, DiGeorge syndrome, Turner syndrome
Holosystolic murmur on auscultation
Small VSDs often close spontaneously
Large VSDs can be closed surgically or with catheter intervention
Patent Ductus Arteriosus (PDA)
Ductus arteriosus connects proximal descending aorta to main pulmonary artery
Essential for fetal circulation
Normally closes spontaneously after birth
Prostaglandins can help keep ductus arteriosus open
Indomethacin helps to close duct
Risks for PDA: Prematurity, prenatal infection
65% of infants born < 28 weeks of fetal gestation have PDA
Accounts for 5-10% of all CHD
2x more common in females
Most cases are sporadic
Increased risk with Down syndrome, Holt-Oram syndrome, and Carpenter syndrome
Continuous machinery murmur at upper left sternal border
For some types of CHD, survival is dependent on PDA
Ductal dependent lesions for systemic flow: Hypoplastic left heart, critical aortic stenosis, interrupted aortic arch
Ductal dependent cyanotic lesions: Pulmonary atresia, transposition of great arteries
Helpful Clues for Less Common Diagnoses
Atrioventricular Septal Defect (AVSD)
a.k.a. endocardial cushion defect
Deficiency of atrioventricular septum
Associated with common atrioventricular valve and abnormal arrangement of valve leaflets
Most severe form allows all chambers of heart to communicate
Pulmonary hypertension develops in infancy or childhood
Associated with Down syndrome
Partial Anomalous Pulmonary Venous Return
Uncommon to be seen as isolated CHD
Usually associated with ASD (80%)
Most common location for anomalous pulmonary venous drainage is from right lung
Anomalous drainage is usually to superior vena cava or right atrium
Helpful Clues for Rare Diagnoses
Hemangioendothelioma
a.k.a. infantile hepatic hemangioma
Most common benign liver tumor in children
Accounts for ˜ 60% of neonatal liver tumors
85% diagnosed in 1st 6 months of life
Symptoms include abdominal distension, hepatomegaly, congestive heart failure, and respiratory distress
Other symptoms: Consumptive coagulopathy (Kasabach-Merritt syndrome) and rupture with intraperitoneal hemorrhage
Can be associated with hypothyroidism
˜ 50% have cutaneous hemangiomas
Multiple lesions may be present
Celiac and hepatic arteries often enlarged
Lesions should regress with age
Symptomatic lesions treated with medical or surgical therapy
On radiograph, see increased pulmonary vascularity and hepatomegaly
Vein of Galen Aneurysmal Malformation
Account for 1% of all intracranial vascular malformations
30% of vascular intracranial malformations in children
Ectatic vascular structure is median prosencephalic vein, not vein of Galen
Occurs due to direct communication between arterial network and median prosencephalic vein
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