(907) Successful Orthotopic-Heart Transplant (OHT) in an Infant With COL4A1 Mutation

Introduction: The COL4A1 mutation has known cerebral small vessel disease, aneurysms, hemolytic anemia and hereditary angiopathy with nephropathy. The mutations are considered rare, but current literature estimates the prevalence is 1 in 100,000 to 1 in 1,000,000. The major consequence of the mutation is decreased vascular integrity, specifically compromising the basement membrane making vessels more likely to rupture. Therefore, cardiopulmonary-bypass and Veno-Arterial (VA) ECMO involves anticoagulation that increasing the risk of bleeding complications in these patients

Description: A 10-day old female presented with worsening respiratory distress, hypothermia, hypoglycemia, bradycardia and severe metabolic acidosis. Her echocardiogram showed severely decreased Left ventricular (LV) systolic function and mildly decreased Right Ventricular systolic function.

She was transferred to the PCICU after ECPR on VA ECMO secondary to poor LV function and ventricular tachycardia. Further evaluation revealed COL4A1 mutation and cardiomyopathy. She was on VA ECMO and her course was further complicated by large recurrent left MCA stroke. Given her ongoing risk of hemolysis, thrombosis and recurrent ischemic strokes with COL4A1 she was weaned off ECMO after 19 days on high dose inotropic support on epinephrine, milrinone, dopamine and calcium drips.

Her heart function remained poor with no improvement in her LV systolic function on high dose inotropic support. An OHT was considered as we were unable to wean her off the inotropes. There are no reported cases of COL4A1 gene mutation in infants undergoing cardiopulmonary-bypass (CPB) given risk of hemorrhagic conversion and poor neurological outcome. After carefully up titrating her anticoagulation we decided to proceed with the transplant. She underwent an OHT successfully after 9 months on full anticoagulation on bivalirudin and high dose inotropic support. She tolerated her CPB well and had no neurologic sequelae. She is 2 years old and 14 months post transplant with good allograft function. She is feeding and growing normally without any developmental issues.

Discussion: This is the first case report that describing safe and successful use of VA ECMO and OHT in an infant with the COL4A1 mutation.