Unusual combination of holt-oram syndrome and persistent left superior vena cava.

UNLABELLED

Holt-Oram (HO) is a syndrome characterized by congenital cardiovascular malformations, specifically atrial and ventricular septal defects, and skeletal abnormalities of the upper limbs bones. Associations of HO cardiac disorders with other congenital cardiac malformations, specifically persistent left superior vena cava (PLSVC) are rarely reported and its real incidence is unknown. We present a case of this unusual combination in a patient undergoing cardiac resynchronization therapy (CRT) device implant.

METHODS AND RESULTS

A 63-year-old male with HO and a history of repaired atrial septal defect was presented for implantable cardioverter defibrillator (ICD) upgrade to CRT. The old implant was located in the right prepectoral area. The old device pocket in the right was accessed and a venous access to the right subclavian vein was obtained. The coronary sinus (CS) was easily cannulated and a long sheath advanced into the CS. A contrast injection revealed an unusually big-sized CS, with a diameter 2.5 times the fully deployed balloon. A 0.035 wire was advanced retrograde reaching the confluence of the innominate and left subclavian veins. The outer sheath was advanced to this location and contrast venography through the sheath allowed visualization of the left jugular and subclavian veins and visualization of the PLSVC draining into the CS. No target veins for lead implant were identified. The patient was referred for surgical implant of an epicardial lead. Transesophageal echocardiogram showed a CS identified as an unusually big vascular structure located between the left atrium and the left atrial appendage.

CONCLUSION

We report an uncommon association of HO and PLSVC. This association was only reported twice in the past and this is the first one that constitutes a casual finding during the attempt of CRT device implant. This is a combination that may complicate a device implant and recognition of it in advance may avoid performing potentially unsuccessful procedures.