Ten-year follow-up of coronary revascularization in a pediatric case with homozygous familial hypercholesterolemia

Abstract

ABSTR ACTHomozygous familial hypercholesterolemia can cause coronary artery stenosis during childhood. Herein, we report a six-year-old boy who underwent coronary artery bypass grafting and liver transplantation at the same clinic four months later.Keywords: Coronary artery bypass grafting, Familial hypercholesterolemia; liver transplantation; pediatric coronary bypass.Homozygous familial hypercholesterolemia (HFH) is a rare, but a serious genetic disorder with a mutation in the low-density lipoprotein (LDL) receptor.[1] It is characterized by severely elevated serum LDL levels and cutaneous, tendinous xanthomas, and an increased risk of premature coronary artery disease (CAD), which may necessitate coronary artery bypass grafting (CABG) in children.Herein, we report a six-year-old boy who underwent CABG and liver transplantation at the same clinic four months later. CASE REPORTA six-year-old boy was admitted to our clinic with a history of chest pain in May 2006. He was diagnosed with HFH six months ago, and was scheduled for liver transplantation. He received medical therapy including atorvastatin 40 mg daily and ezetimibe 10 mg daily. With the treatment, total cholesterol was 768 mg/dL, LDL cholesterol 679 mg/dL, high-density lipoprotein (HDL) cholesterol 24 mg/dL, and triglycerides 85 mg/dL in the blood tests. Other parameters were within normal ranges. In the preoperative period, stable angina was detected and coronary angiography was performed. There was severe stenosis at the proximal left main coronary artery (LMCA) (90%) and multiple mild stenotic lesions at the other coronary arteries (Figure 1). Thallium myocardial scintigraphy was performed and myocardial ischemia was seen only at the left anterior location. Echocardiography showed normal ejection fraction with 65% and aortic valve and aortic wall thickening without gradient. Carotid arteries were examined with Doppler ultrasound, and there were no evidence of stenosis, despite small atheromatous plaque formations.

State-of-the-Art Pediatric Coronary Artery Bypass Surgery: a Literature Review

“…The latest published large-scale work by Kitamura S. et al [ 3 ] indicated a clear desire to perform off-pump CABG; however, none of the publications provided exact data on the on-pump conversion rate. Nevertheless, there are some observations that indicate a rather successful use of cardiopulmonary bypass in pediatric practice [ 40 ] . It is important to keep in mind that internal thoracic arteries are short and thin-walled vessels with a diameter of 1 mm or less, which corresponds to the small size of the chest in children.…”

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

“…CAD was seen in three of their patients (38%) and CABG was performed in one patient. Coronary revascularization in childhood is a rare procedure; the youngest patient with HoFH undergoing CABG was reported by Oral et al (12). They performed CABG and liver transplantation in a 6-year-old boy.…”