Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.

Challenging a dogma: left ventriculotomy can be used safely in children.

Objective: We aimed to discuss our unit's experience performing left ventriculotomies on children.

Methods: Between 2000 and 2022, we identified paediatric patients who required left ventriculotomy. Relevant information was gathered retrospectively.

Surgical management of renovascular hypertension in children and young adults: a 13-year experience.

Objectives: In this study, we aimed to evaluate the early and mid-term outcomes of surgery for renovascular hypertension (RVH) at our institution, within the last 13 years.

Methods: We retrospectively reviewed 19 patients who underwent surgery for RVH, between 2005 and 2017. The age at operation, clinical characteristics, cause of arterial stenosis, diagnostic workup, surgical management and outcomes during the follow-up were analysed.

Congenital heart defects: the 10-year experience at a single center.

We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center. CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.

L-carnitine on myocardial function after coronary artery bypass grafting.

Background: This study aims to evaluate the effect of L-carnitine on postoperative cardiac performance and morbidity and complications in patients undergoing coronary artery bypass grafting.

Methods: Between April 2005 and June 2008, a total of 60 patients (36 males, 24 females; mean age 60.6 years; range 57 to 65) who were scheduled for coronary artery bypass grafting were prospectively randomized to receive one of three different strategies of myocardial preservation.