AN UNUSUAL DUO: CARDIAC ANOMALIES IN A PATIENT WITH NIEMANN PICK TYPE A

POSTER PRESENTATIONS

Introduction. Niemann-Pick disease is a rare autosomal recessive metabolic disorder caused by deficiency in the enzyme acid spingomyelinase, which leads to accumulation of sphingomyelin in lysosomes. The overall prevalence of acid sphingomyelinase deficiency (types A and B combined) is estimated to be 1:250,000. Patients often present within the first few months of life with hepatosplenomegaly, feeding difficulties, and loss of early motor skills. Storage of sphingomyelin in pulmonary macrophages leads to interstitial lung disease, frequent respiratory infections, as seen in our patient, and often to respiratory failure. Loss of neurologic function is rapid and progressive. Case presentation. An 18 month old male presented to the pediatric cardiology clinic for significant hepatomegaly concerning for a cardiac cause vs storage disease. The patient’s past medical history consisted of recurrent sinusitis, rhinitis, and ear infections, restless sleep, and balance problems. Past surgical history included adenoidectomy for adenoid hypertrophy at 15 months of age. At the time of the surgery, the anesthesiologist noted the patient to have an enlarged liver and referred follow up. Labs ordered by the PCP included BUN 15, K 5.7, CO2 14, AST 190, ALT 114, and total bilirubin 0.4. The patient’s symptoms at time of presentation at the cardiology office included fussiness, restless sleep, enlarged liver x 3 months, and severe itching for 2 months. The patient’s parents relayed that he was developmentally delayed, was not walking independently, had balance issues, and had limited vocabulary. Upon exam, he was noted to have firm liver 10 cm below the right costal margin, spleen passed the umbilicus, and a click at the upper left sternal border upon cardiac auscultation. An echocardiogram was ordered and revealed bicuspid aortic valve with mild aortic root dilation without aortic stenosis. Following his visit with cardiology, he was seen at the pediatric genetics department. A lysosomal enzyme panel revealed low acid sphinomyelinase indicating Niemann-Pick disease type A. This finding was confirmed with DNA analysis testing of SMPD1 enzyme deficiency. Deviation From the Expected. Death typically occurs by two to three years of age. Bicuspid aortic valve is a relatively common abnormality. Most children with congenital valvar aortic stenosis (AS), even to moderate degrees, are relatively asymptomatic. Patients with bicommissural valves and no stenosis still require long-term follow-up, because progressive stenosis develops in approximately 75 percent of adults. Thickening and focal calcification of the bicommissural valve can be detected pathologically and on echocardiography as early as the second decade of life. Yearly echocardiography, MRI, or CT is recommended for patients with bicuspid aortic valves and dilation of the aortic root or ascending aorta. Discussion. This patient had an unusual presentation of Niemann Pick disease type A along with bicuspid aortic valve and aortic root dilation. While Niemann Pick disease type A is a condition fatal in childhood, there is no current recommendation on management of aortic valve disease in these types of patients. Conclusion. This case presents a novel finding of bicuspid aortic valve with aortic root dilation in Niemann Pick disease not previously reported. It is important to consider the management of such patients presenting with both a condition causing significantly decreased life expectancy as well as a condition that needs to be routinely followed into and throughout adulthood. Grants. N/A