Ultrasound Pitfalls in a Complex Fetal Cardiac Malformation—Case Report of a New Arteriovenous Central Communication

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still exposed to the risk of either incorrect acquired image or misinterpretation by the specialist in a routine scan. Herein, we present a case of a 20-week-old fetus (from an apparently low-risk pregnancy) with complex cardiac and vascular abnormalities, including an arteriovenous malformation along with ventricular septal defect, ductal coarctation of the aorta, aneurysm of a brachiocephalic vein, and dilation of the entire neck and upper mediastinum venous system, and the limitations that were encountered in the process of diagnosis and management of the case.

Late diagnosis of pulmonary agenesis

Pulmonary agenesis is defined as the complete absence of one or both lungs, including the bronchi, bronchioles, vasculature and lung parenchyma. Most of these malformations are detected in early childhood. A residual number remains asymptomatic and undiagnosed until adulthood. The clinical presentation is wide, ranging from asymptomatic to respiratory complaints like dyspnoea, respiratory distress and a history of recurrent lung infections. This case presents a 54-year-old woman with complaints of coughing, dyspnoea for medium exertion and wheezing for a couple of months. Based on the results of complementary diagnosis methods, right pulmonary agenesis was diagnosed without other malformations. Simultaneously, an asthma diagnosis was also performed. The treatment of pulmonary agenesis is symptomatic. Simultaneous cardiovascular malformations could require surgical interventions. This case demonstrates that pulmonary agenesis may remain undiagnosed, be identified incidentally, and have a good and long prognosis.

Mechanistic Insights into Axenfeld–Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants

Axenfeld–Rieger syndrome (ARS) encompasses a group of developmental disorders that affect the anterior segment of the eye, as well as systemic developmental defects in some patients. Malformation of the ocular anterior segment often leads to secondary glaucoma, while some patients also present with cardiovascular malformations, craniofacial and dental abnormalities and additional periumbilical skin. Genes that encode two transcription factors, FOXC1 and PITX2, account for almost half of known cases, while the genetic lesions in the remaining cases remain unresolved. Given the genetic similarity between zebrafish and humans, as well as robust antisense inhibition and gene editing technologies available for use in these animals, loss of function zebrafish models for ARS have been created and shed light on the mechanism(s) whereby mutations in these two transcription factors cause such a wide array of developmental phenotypes. This review summarizes the published phenotypes in zebrafish foxc1 and pitx2 loss of function models and discusses possible mechanisms that may be used to target pharmaceutical development and therapeutic interventions.

Analysis of Management of Newborns With Critical CHD at Preoperative Stage

Congenital heart defects (CHD) are the most common birth anomaly affecting approximately 1% of births and have a prevalence of about 5.8 per 1000 people. CHD is the most common congenital anomaly in newborn babies. Management of the newborn with CHD represents a frontier of clinical pediatric cardiology. Progress in diagnosis and surgical treatment of the individuals with a heart defect has progressed to the point that almost all heart defects can be significantly improved and treated. Cardiovascular malformations account for about 10% of infant deaths and nearly half of all deaths from malformations

Analysis of Ultrasonic Features Based on Absence of Pulmonary Artery

According to clinical features and ultrasonic imaging features of patients with absence of pulmonary artery, it is necessary to analyze ultrasonic imaging features of absence of pulmonary artery to provide clinical basis for improving the diagnostic value and prognosis. The data and color Doppler echocardiography of 45 patients with absence of pulmonary artery are collected, who are confirmed by cardiac catheterization, CTA and operation, and the clinical features and ultrasonic imaging features are studied. The research results show that 57% of the patients have left absence of pulmonary artery and 91% of them have other cardiovascular malformations, where ASD/PFO is the most common, PDA and VSD are the second. Patients with UAPA have changes of pulmonary artery, the incidence of pulmonary artery abnormalities in multiple malformations, changes of ASD/PFO, PDA and VSD are mainly pulmonary hypertension. The ejection fraction of patients with UAPA is normal. The main manifestation of pulmonary hypertension is the increase of right cardiac volume load, and the main manifestation of pulmonary stenosis is the increase of collateral circulation. Pulmonary hypertension and its associated cardiovascular malformations may be related to the prognosis of patients. Ultrasound doctors should understand such diseases to improve the diagnosis rate and the prognosis.

Partial anomalous pulmonary venous connection and pulmonary venous varix coexist in Turner syndrome: a case report

Turner syndrome is a clinical syndrome caused by autosomal abnormalities in women. It is often accompanied by congenital cardiovascular malformations commonly including a bicuspid aortic valve malformation and aortic coarctation, but the presence of multiple pulmonary venous abnormalities is extremely rare. We present a 27-year-old woman who was diagnosed with Turner syndrome. She was revealed an anomalous right upper pulmonary venous connection, left upper pulmonary vein obstruction, and varicose vein malformations of the left pulmonary veins by a series of examination. Cardiac catheterisation and selective pulmonary angiography can further confirm the diagnosis, morphological characteristics, haemodynamic significance and provide a reference for the next step of treatment.

Filamin A Regulates Cardiovascular Remodeling

Filamin A (FLNA) is a large actin-binding cytoskeletal protein that is important for cell motility by stabilizing actin networks and integrating them with cell membranes. Interestingly, a C-terminal fragment of FLNA can be cleaved off by calpain to stimulate adaptive angiogenesis by transporting multiple transcription factors into the nucleus. Recently, increasing evidence suggests that FLNA participates in the pathogenesis of cardiovascular and respiratory diseases, in which the interaction of FLNA with transcription factors and/or cell signaling molecules dictate the function of vascular cells. Localized FLNA mutations associate with cardiovascular malformations in humans. A lack of FLNA in experimental animal models disrupts cell migration during embryogenesis and causes anomalies, including heart and vessels, similar to human malformations. More recently, it was shown that FLNA mediates the progression of myocardial infarction and atherosclerosis. Thus, these latest findings identify FLNA as an important novel mediator of cardiovascular development and remodeling, and thus a potential target for therapy. In this update, we summarized the literature on filamin biology with regard to cardiovascular cell function.