You have been asked to conduct an educational session regarding the risk factors associated with congenital cardiac defects for a group of newly wed couples who are considering starting a family. Below, discusses behavioral and genetic risk factors; including, pathophysiology, diagnosis, and treatment.
A congenital anomaly affects 3-5% of all live births in the US, with the most common defect being congenital heart disease (CHD).1 Congenital heart disease is defined as “a gross structural abnormality of the heart or intra-thoracic great vessels that is actually or potentially of functional significance”.2 Congenital heart defects occurs approximately in 9 per 1000 cases in the US, and are a leading cause of death.3 The etiology of congenital heart defects varies and includes chromosomal abnormalities, non-genetic causes, and pregnancy exposure to environmental factors that adversely affect fetal development. Chromosomal abnormalities such as trisomy 21 and chromosome 22q11 micro-deletion represent 8-20% of CHD cases whereas non-genetic causes due to maternal factors such as maternal rubella infection, epileptic disease, maternal use of thalidomide, and obesity represent less than 5%. Congenital heart defects include: patent ductus arteriosus (PDA), atrial septal defects (ASD), and ventricular septal defects (VSD).2
Patent ductus arteriosus (PDA) is associated with morbidities such as intraventricular hemorrhage (IVH), bronchopulmonary dysplasia (BPD), and necrotizing enterocolitis (NEC). PDA is confirmed by echocardiographic parameters for assessment of shunt presence, and is a cyanotic anomaly if shunting of blood occurs from right to left. Usually, PDA develops due to failure of the ductus arteriosus to close at birth and the type of shunt depends on the difference between aortic and pulmonary artery pressure. Specifically, if the pressure in the pulmonary circulation exceeds the pressure in the systemic circulation, blood will be shunted from right to left. Clinical presentation of PDA includes: bounding pulses which a strong pulse that quickly disappears, a continuous murmur like washing machine, enlarged liver, and respiratory distress such as retraction, tachypnea, hypoxemia, and apnea. The most common risk factor associated with PDA is maternal smoking. Treatment includes: indomethacin (Indocin), a prostaglandin inhibitor, surgical clip, and coil.4
Atrial septal defects (ASD) is an acyanotic anomaly with shunting of blood from left to right. The presence of an ASD reflects failure of the foramen ovale to close and/or failure to correctly form the atrial septum. ASD is classified as two types of defects: ostium primum which usually occurs low in the atrial wall where both mitral and tricuspid valves are involved, and ostium secundum, which occurs high in the atrial wall where the foramen ovale is involved, and is the most common type. ASD is due to a difference of pressure between the left and right atria, where blood moves from the left to right atrium through the ASD. Clinical presentation of ASD includes: increase pulmonary blood flow and right ventricular hypertrophy. Mostly, the chest x-ray is normal, and auscultation reveals a systolic murmur. Both ASD and pulmonary valve anomalies are associated with maternal smoking. Treatment includes: surgical correction for closure and/or placement of a plastic prosthesis via open heart surgery.
A ventricular septal defect (VSD) is an acyanotic anomaly which results in a left to right shunt. VSD is classified as either small or large defects, where significant left to right shunt occurs with a large defect. Cardiac output is forced through the lungs due to pulmonary vascular resistance, which normally, is one-fifth of systemic vascular resistance. Large VSD defects can increase pulmonary blood flow to the point where it causes fibrosis of the pulmonary arterioles, which eventually leads to irreversible pulmonary hypertension. This condition is called Eisnmenger’s syndrome and is associated with VSD where pulmonary vascular resistance is larger than systemic vascular resistance which reverses the left to right shunt to a right to left shunt. Treatment includes: surgical correction for large defects during cardiopulmonary bypass, digoxin, furosemide, and pulmonary banding.2
References
1. Madsen NL, Schwartz SM, Lewin MB, Mueller BA. Pre-pregnancy body mass index and congenital heart defects among offspring: a population-based study. Congenit Heart Dis 2013;8(2):131-141
2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39(12):1890-1900
3. Sullivan PM, Dervan LA, Reiger S, Buddhe S, Schwartz SM. Risk of congenital heart defects in the offspring of smoking mothers: a population-based study. J Pediatr 2015;166(4):978-984.e2
4. Jain A, Shah PS. Diagnosis, Evaluation, and Management of Patent Ductus Arteriosus in Preterm Neonates. JAMA Pediatr 2015;169(9):863-872