Background
Nail-patella syndrome is an autosomal dominant pleiotropic condition characterized by pelvic and skeletal abnormalities and most commonly affecting a tetrad of nails, knees, elbows, and iliac horns- the iliac horns being pathognomonic for the condition. The most well documented extra-skeletal manifestation is renal involvement with alteration in type III collagen. No documented cases of Nail-Patella Syndrome with anomalous coronary arteries or aneurysms, acute coronary occlusion, or successfully coronary interventions exist in the medical literature.
Case Summary
A 62-year-old female with past medical history significant for nail-patella syndrome diagnosed 50 years ago presented to the emergency department with a chief complaint of chest pain. She recently developed end-stage renal disease managed with peritoneal dialysis within the last year. Angiography revealed 100% right coronary artery occlusion with an anomalous take-off from the left circumflex artery. Diffuse coronary aneurysms were demonstrated in the right coronary artery, mid-left anterior descending artery, and other epicardial vessels. Two drug eluting stents were placed in overlapping fashion. Following careful apposition, the aneurysmal segment was successfully stented without complication. The patient was discharged without complication 2 days later.
Discussion
Our case shows the first reported case of coronary vascular anomalies and successful coronary revascularization in a patient with Nail-Patella Syndrome in the medical literature. Given the recently reported vascular anomalies and known collagen alterations seen in patients with the genetic disorder, clinicians should suspect further systemic vascular anomalies with their own unique therapeutic challenges when encountering patients with this rare genetic syndrome.