(809) A New Diagnosis of SPTA-1 Hemolytic Anemia and Mitral Stenosis in an Infant Presenting in Shock

Introduction: Anemia is common in the PICU, but hemoglobin < 7g/L in the absence of an oncologic or hemorrhagic cause is less frequent. We present a novel case of hereditary hemolytic anemia and congenital heart disease (CHD) in a previously healthy infant presenting in shock.

Description: A 9-month-old presented with one week of cough, difficulty breathing, and poor intake and was diagnosed with Rhinovirus bronchiolitis. On exam he had marked pallor, massive hepatosplenomegaly, and a low-pitched diastolic murmur at the apex. Laboratory results showed hemoglobin 6.2 g/dL, white blood cell count 25,000/L, platelet count 100,000/L and signs of hemolysis with total bilirubin 4.1 mg/dL, lactate dehydrogenase 793 U/L, uric acid 6.1 mg/dL, and haptoglobin 1 mg/dl. Despite non-invasive respiratory support, he decompensated and was transferred to the PICU and intubated. Chest radiograph showed cardiomegaly and pulmonary edema. Echocardiogram showed parachute mitral valve with severe stenosis (23 mmHg gradient), but normal function. His electrocardiogram showed a heart rate of 40 beats per minute, alternating between sinus and junctional escape rhythm.

Workup for anemia and thrombocytopenia included bone marrow biopsy and whole exome sequencing (WES). Family history revealed maternal relatives with anemia of unknown etiology. Despite improved respiratory status he failed extubation due to left atrial hypertension and poor cardiac output. He underwent mitral valve repair after which he had significantly improved cardiac output and normalization of heart rate and rhythm. He was extubated and discharged home. WES revealed spectrin alpha erythrocytic 1 (SPTA-1) gene mutation resulting in autosomal recessive hemolytic anemia (similar to hereditary spherocytosis.) This is the first report of a child presenting with shock and previously undiagnosed SPTA-1 hemolytic anemia and mitral stenosis. To our knowledge SPTA-1 mutations have not been associated with CHD.

Discussion: This infant had a complex constellation of symptoms that ultimately led to two rare diagnoses. Infants with SPTA-1 hemolytic anemia alone can present in shock due to hemolytic crisis, but the added challenge of managing severe mitral stenosis made this case more complex. Optimizing medical management prior to surgery led to an excellent outcome.