Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), a 55-kDa enzyme catalyses the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide, thus providing a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol, the malonyl-CoA pool is regulated by the balance of MLYCD and acetyl-CoA carboxylase activities. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. Our findings expand the number of reported cases and add a novel variant to the repertoire of MLYCD mutations.

The large outbreak of coronavirus disease 2019 (COVID-19) is spreading all over the world rapidly. There have recently been publications in the literature regarding the relationship between COVID-19 and Kawasaki disease, but there is no sufficient knowledge about the treatment and follow-up.

In the presence of complex septal morphology or extra-cardiac factors like severe scoliosis or diaphragm paralysis, the procedure may become more challenging, and pre-formed sheaths and devices thought to facilitate the implantation might turn into a problem to address. Similarly to Herron and Kobayashi, we have experienced a similar issue during atrial septal defect closure with Gore Cardioform atrial septal defect device® in a 12-year-old female patient with severe scoliosis. After the conformation of the locking loop and the removal of the safety cord, the Gore Cardioform atrial septal defect device prolapsed in the right atrium.

There are three cusps in a normally developed aortic valve. Abnormal excavation or fusion, during the embryological development of the aortic valve, results in a varying number of cusps. Bicuspid aortic valve is the most common, but more rarely, unicuspid and quadricuspid aortic valves can be seen.

Here, a case of a 16-year-old male with a unicommissural unicuspid aortic valve and a case of a 13-year-old female with a quadricuspid aortic valve were reported.

Kawasaki disease is usually self-limited, but it can lead to aneurysm, stenosis, thrombosis, and myocardial infarction in the coronary arteries. The most important complication of Kawasaki disease is coronary artery aneurysm. Coronary artery aneurysm or ectasia may be seen in 15–25% of patients who do not receive treatment. It develops in 5% of children who receive intravenous immunoglobulin at the appropriate time. Acute myocardial infarction is the most important cause of morbidity and mortality in Kawasaki patients with giant aneurysms. We present a 10-year-old girl who had a history of giant aneurysm in the coronary arteries and underwent percutaneous coronary intervention due to anterior myocardial infarction.

Acquired and congenital left ventricular to right atrial communication is rare, but nowadays, the frequency of the iatrogenic subgroup is increasing. Successful transcatheter closure of these defects with different devices has been reported. Herein, we presented successful closure of left ventricular to right atrial communication with Amplatzer Duct Occluder 2 after attempting to close with a failed Amplatzer Vascular Plug II device in a 7-year-old girl. This report supports that transcatheter closure of iatrogenic Gerbode defect with Amplatzer Duct Occluder 2 device is safe and effective.