Tuberous xanthoma with cardiac failure in a child

Abstract

A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG. An echocardiogram revealed aortic stenosis and severe left ventricular dysfunction.Computed Tomography (CT) imaging showed aortic annulus calcifications causing aortic stenosis. Over three years she had gradually developed asymptomatic cutaneous swellings over the small and large joints of the extremities suggestive of tuberous xanthomas. Skin biopsy revealed scattered foamy macrophages in the upper dermis and cholesterol clefts. Her lipid profile showed raised total cholesterol and low-density lipoprotein levels. With the above clinical, histological, and laboratory findings she was diagnosed as a case of familial homozygous hypercholesterolemia with tuberous xanthomas and cardiac failure. She was started on statins, ezetimibe, and other anti-failure measures. We present this case for its rarity. Early diagnosis of this condition based on skin findings, could have prevented cardiac failure by initiating early appropriate treatment.

Insights into calcific aortic valve stenosis: a comprehensive overview of the disease and advancing treatment strategies

“…Homozygous familial hypercholesterolemia is also a disease with varied clinical presentations, and even with appropriate treatment, it has been reported to present with an accelerated course of AV calcification and stenosis 49 . In children, a case of tuberous xanthoma initially presenting as CAVD has been noted, highlighting that the disease is not limited to the elderly 50 . Moreover, it is well documented that alkaptonuria presents with AV calcification, a condition popularly referred to as cardiac ochronosis 51 .…”