Progress has been made in the diagnosis of congenital heart diseases. In the past, careful physical examination along with the electrocardiogram and the chest x-ray was the mainstay of making a preliminary diagnosis. Once this assessment was made, cardiac catheterization, hemodynamics, angiography, and analysis of complex catheter courses laid the groundwork for the cardiac surgeon.

Currently, echocardiographic techniques allow for the precise diagnosis of congenital heart diseases. This includes the location of shunts, great vessel arrangements, atrioventricular valve orientations, and many other abnormalities, all of which can be displayed on the echo screen in both two and three dimensions. Doppler assessments allow for pressure and flow calculations and shunt quantifications. Echocardiography along with CMRI have revealed so much anatomic
and physiologic information that cardiac catheterization with angiography have become focused on gathering information that is missing from the diagnostic equation.

Structural heart interventions with devices for shunt closure and valve replacement have filled in the time slots in the diagnostic cardiac catheterization laboratories and have altered the procedures done by cardiac surgeons.

The specialty of adult congenital cardiology has been born from the excellent work done by pediatric cardiologists, pediatric cardiac surgeons, and adult cardiologists interested in this area, and they have allowed our patients to reach adulthood and lead normal lives.

This chapter deals with the diagnosis of congenital heart disease focusing on common, relative simple abnormalities and not dealing with very complex congenital cardiac abnormalities. For the emergency room physician, the primary care physician, and the internist to the cardiologist, the diagnosis of congenital heart disease in the adult patient is challenging. There are certain basic clues in the general examination, the electrocardiogram, and the echocardiogram that should allow the correct diagnosis to be made.

Bicuspid aortic valve is the most common congenital abnormality of the heart, and it is presented in more detail in the section on the aortic valve and aorta.

Examples of common congenital abnormalities in the young person and adult are discussed in the following pages.

Although bicuspid aortic valve is the most common congenital abnormality of the heart if we label patent foramen oval (PFO) as a congenital abnormality, it might be the most common. Actually, we consider PFO to be a part of our development that is incomplete and not a frank defect. In ordinary circumstances, it poses no problem, but in special situations, it can cause difficulty. In the setting of high right-sided pressures with pulmonary embolus or pulmonary hypertension from another etiology, high right atrial pressures will result in a PFO opening up and allowing right-to-left shunting. In the setting of a PFO with a relative short tunnel, simple maneuvers such as deep breathing, coughing, sneezing, and Valsalva maneuver can open the PFO and cause right-to-left shunting. This physiology comes into play in the setting of SCUBA diving when decompression difficulties occur.¹

PFO at times can be a major factor in cryptogenic stroke. Small thrombi from the legs can migrate up the vena cava to the right atrium and in the right clinical setting can cross to the arterial circulation. The extreme of this situation is the pulmonary embolus in transit that crosses to the left circulation and causes a stroke. An additional relationship exists with PFO and migraine headaches. The incidence of migraine headaches in those who have a PFO is higher than in
the general population. One explanation is that vasoactive substances bypass the lungs by crossing through the PFO producing migraine headaches by altering the vasculature of the brain.²,³,⁴

Congenital ventricular septal defect comes in many forms including muscular defects, inflow defects, and outflow defects both infracristal and supracristal. Defects in the inflow area of the right ventricle are very close to the tricuspid valve and the perimembranous area of the ventricles. The septal leaflet of the tricuspid valve often has its origin in the middle of the membranous portion of the interventricular septum and poses options for shunting to take place. Below the tricuspid valve, the shunt is to the right ventricle, and above the septal leaflet, it is directed to the right atrium (Gerbode defect). Muscular defects can be of various locations and can be multiple often orienting around the moderator band.

Other defects in the direction of the right and left ventricular outflow tracts may be infracristal or supracristal. The infracristal defects are identified as their jets relate to the aortic valve and are located at the 9 o’clock region or more toward the body of the right ventricle. The supracristal defects are high up in the interventricular septum and have a 12 o’clock orientation as related to the aorta in cross section and lie under the right cusp of the aortic valve. These defects are notorious for resulting in poor support of the right coronary cusp of the aortic valve and can cause aortic regurgitation of various degrees. Repair of this defect often requires intervention of one type or another on the aortic valve. The resulting aortic regurgitation may change in an abrupt fashion, and for this reason, long-term follow-up is needed. These types of defects do not lend themselves to percutaneous interventions.⁸,⁹