2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping
نویسندگان
چکیده
A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary large secundum septal defect, and right aortic arch mirror-image branching, consistent developmental arrest early heart looping. To best our knowledge, no previous 2q37 deletion syndrome has been reported such severe cardiac dysmorphology. Hence, this case adds to phenotypes identified syndrome.
منابع مشابه
Ethanol exposure alters early cardiac function in the looping heart: a mechanism for congenital heart defects?
Alcohol-induced congenital heart defects are frequently among the most life threatening and require surgical correction in newborns. The etiology of these defects, collectively known as fetal alcohol syndrome, has been the focus of much study, particularly involving cellular and molecular mechanisms. Few studies have addressed the influential role of altered cardiac function in early embryogene...
متن کاملVentricular Function in Congenital Heart Defects
In order to understand the physiology of the neonatal heart, one must have an understanding of both the fetal circulation and the cardiac function of the adult heart. Transitional changes occur in the neonatal period, where the function of one ventricle has important effects on the function of the contralateral ventricle (1). In the presence of congenital heart defects, the myocardium is expose...
متن کاملCell polarization defects in early heart development.
Planar Cell Polarity defects have been associated with a range of phenotypes in vertebrates, most notably the closure of the neural tube, the orientation of stereociliary bundles in the inner ear, and the orientation of hair and fur. In a new study in this issue of Circulation Research, Phillips and colleagues present data that implicate PCP signaling in the developing mouse heart. Characterize...
متن کاملLeft ventricular aneurysmectomy with continuous beating heart: early results
Objective: Operative mortality after left ventricle aneurysmectomy is close to 15%. Specifically for this procedure, forms of myocardial protection have been little discussed. The purpose of this study was to evaluate immediate results of left anterior ventricular aneurysmectomy using the beating heart approach. Method: We performed a retrospective analysis of 34 patients who underwent a left a...
متن کاملCNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients
Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Congenital Heart Disease
سال: 2022
ISSN: ['1747-0803', '1747-079X']
DOI: https://doi.org/10.32604/chd.2022.019743