Thank you so much to Nick and Matt for presenting the case of a young man with a history of congenital pulmonary atresia and hypoplastic RV decades status post a bidirectional Glenn procedure coming in with shortness of breath and chest pain. The patient was found to have a severely dilated aortic root with resultant aortic insufficiency and severe pulmonary hypertension.
- When assessing a patient with congenital heart disease, it is VITAL to obtain records outlining the pathophysiology and previous procedures in order to understand their current physiology and what might go wrong.
- As Anne Thorson shared with us, in a patient with congenital heart disease who was previously doing well and then decompensates, ALWAYS consider the possibility of infection (particularly endocarditis) as the cause.
- SVC syndrome is a clinical diagnosis – see some physical exam features below.
Cyanotic Congenital Heart Lesions: There are 5 main lesions, often called the “5 Ts”, of congenital heart defects that can result in cyanosis at birth or in the neonatal period. Most of these conditions will require intervention within the first months of life.
Here’s a review on cyanotic congenital heart disease in adults. Of note, it’s from 1975… my guess is many things have changed since then and we see significantly more adult survivors of congenital disease.
Pulmonary atresia and hypoplastic RV is NOT typically a cyanotic heart lesion. However, the small RV + atretic pulmonic valve can lead to a volume and pressure overloaded state on the right side the heart. The Bidirectional Glenn Procedure reduces blood flow to the hypoplastic RV (thus offloading the pressures) by diverting the SVC directly into the pulmonary arteries. Blood return from the IVC continues to enter into the RA.
While we most commonly see SVC Syndrome in the setting of extrinsic compression or internal invasion of the SVC in malignancy, remember that there are multiple other risk factors as well!
Risk factors for SVC syndrome:
- Thoracic mass – lung cancer, lymphadenopathy, lymphoma, teratoma, thymoma
- Vascular disease – aortic aneurysm, vasculitis, AV fistula
- Scarring or Fibrosis – related to chronic infection (like histo as Harry mentioned or tuberculous mediastinitis as described by Schechter in 1954), radiation, or instrumentation
- Cardiac causes – pericarditis, atrial myxoma OR, as in this case, severe pulmonary hypertension in patient whose SVC connects directly to the pulmonary veins!
- Clot – with or without underlying malignancy or central venous catheter
Here’s another, more recent, review of SVC syndrome, describing the pathology, risk factors, diagnosis, and management.
Harry mentioned Pemberton’s sign, described in the linked NEJM images in Clinical Medicine article. Below are 2 YouTube videos showing the classic finding: signs of SVC syndrome brought on by extending the arms over the head. The second is quite dramatic.