Diagnosis and care recommendations for rare congenital anomaly

Congenital heart defects (CHDs) are rare. The Centers for Disease Control and Prevention estimates CHDs affect just 1% of births (about 40,000) annually in the United States.¹ Doctors diagnose many CHD cases at or before birth. Still, many go undetected for years or even well into adulthood.

Luigi Pacifico, DO, FACC, a cardiologist with the Reliant Medical Group, says physicians often only identify CHDs in adulthood after symptoms develop.

“Many times, the clinical exam and EKG may not pick up the congenital abnormality,” Dr. Pacifico says. “So, when a young person presents with chest pain, we usually do not expect blockage or stenosis. Pericarditis or myocarditis may present with chest discomfort; these are more common. Illicit drug use may present with coronary spasms or thrombosis.”

In 2022, Dr. Pacifico and a team published a case study highlighting the diagnostic work-up and treatment approach for an adult patient with a rare CHD.²

The case study focused on a 42-year-old man complaining of sporadic chest discomfort and occasional dizziness. Despite mildly elevated lipids, the patient had no other high-risk factors for cardiopulmonary disease.

The medical team conducted several noninvasive tests as part of a detailed work-up, including a stress test, which gave normal results. 

A coronary computed tomography angiogram (CTA) revealed the patient’s right coronary artery was on the wrong side of his heart.

“The patient’s right coronary artery was sandwiched between the pulmonary artery and the aorta,” Dr. Pacifico says. “This is a very rare case, with a prevalence of about 0.26% in the general population. We happened to find it because of our rigorous work-up. We’re very aggressive in figuring out what we’re dealing with when it comes to young patients with chest pain.”

To determine the best approach to treatment, Dr. Pacifico and the team first needed to determine the presence or absence of ischemia. They placed a temporary transvenous pacemaker via the patient’s groin up to the right atrium and performed real-time pacing with an EKG. Fortunately, they observed no evidence of ischemia.

With no ischemia, Dr. Pacifico and the team determined the patient’s chest discomfort was unrelated to his CHD.

“If we had proven ischemia, this patient would have needed an operation to bypass the right coronary artery or transpose the right coronary from the left to the right side,” says Dr. Pacifico. “We determined, however, that there was no benefit in operating on this patient, which our literature search confirmed.” 

After a thorough exploration, shared decision-making resulted in a conservative approach to treatment in this patient. There was no need for surgical intervention and only close follow-up in the outpatient setting.

Case studies provide valuable insights into rare conditions when prospective studies aren’t possible.

“Most cardiologists will never see a case like this,” Dr. Pacifico says. “But if they do, it’s important they have resources to help determine the best course of treatment.

“Case studies like ours are incredibly helpful not only to cardiologists but also to cardiologists-in-training and catheterization lab teams.”

• Patient satisfaction:  A complete work-up, identification of CHD and further testing for ischemia provided a level of assurance to the patient. In addition, including the patient in the decision-making process increases their satisfaction.
• Clinician well-being:  Some clinicians go a lifetime without seeing a rare case of CHD. The finding, subsequent work-up and testing provided discovery, teaching and publishing opportunities that can add fulfillment to a physician’s career.
• High-quality outcomes:  Safely providing the best evidence-based option for patients leads to high-quality outcomes.
• Affordable health care:  A rigorous work-up, literature search and shared decision-making eliminated the need for more invasive and expensive open-heart surgery.