Kabuki Syndrome
a post_it by s.gerboni

Kabuki syndrome, also known as Kabuki makeup syndrome and Niikawa-Kuroki syndrome, was initially described in 1988 by Niikawa et al. Congenital heart disease is commonly associated with Kabuki syndrome, with a reported incidence of 31–58% in large series ….

Ethics of Cardiac Transplantation in Hypoplastic Left Heart Syndrome
Alexander A. Kon
Editorial
Pediatr Cardiol (2009) 30:725–728
Open Access This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle………………….>

Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis…………….>

Noncompaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by numerous, prominent trabeculations and deep intertrabecular recesses caused by arrest in myocardial embryogenesis. This study reviews our experience with neonatal and fetal NCVM. In contrast to the past reports of fetal and neonatal NCVM, all pts in this group improved, and survived infancy.

Williams-Beuren syndrome (WBS) is a multisystem genetic disorder caused by a microdeletion on chromosome 7. The majority of patients demonstrate cardiovascular pathology, most commonly supravalvular aortic and/or other vascular stenoses……………