Excess Provisional Extracellular Matrix: A Common Factor in Bicuspid Aortic Valve Formation

A bicuspid aortic valve (BAV) is the most common cardiac malformation, found in 0.5% to 2% of the population. BAVs are present in approximately 50% of patients with severe aortic stenosis and are an independent risk factor for aortic aneurysms. Currently, there are no therapeutics to treat BAV, and the human mutations identified to date represent a relatively small number of BAV patients. However, the discovery of BAV in an increasing number of genetically modified mice is advancing our understanding of molecular pathways that contribute to BAV formation. In this study, we utilized the comparison of BAV phenotypic characteristics between murine models as a tool to advance our understanding of BAV formation. The collation of murine BAV data indicated that excess versican within the provisional extracellular matrix (P-ECM) is a common factor in BAV development. While the percentage of BAVs is low in many of the murine BAV models, the remaining mutant mice exhibit larger and more amorphous tricuspid AoVs, also with excess P-ECM compared to littermates. The identification of common molecular characteristics among murine BAV models may lead to BAV therapeutic targets and biomarkers of disease progression for this highly prevalent and heterogeneous cardiovascular malformation.

General Anesthesia for Cesarean Section in a Pregnant Woman with Truncus Arteriosus Intraoperatively Monitored by Transesophageal Echocardiography

Truncus arteriosus (TA) is defined as a congenital cardiovascular malformation in which one great artery arises from the base of the heart and gives origin to the pulmonary and systemic arteries. TA patients who become pregnant have high morbidity and mortality rates because physiologic changes during pregnancy can worsen the cardiopulmonary balance causing cardiopulmonary decompensation. In this case report we report a successful general anesthesia in a truncus arteriosus patient with severe pulmonary hypertension (Eisenmenger syndrome) who underwent a full-term pregnancy delivery monitored by intraoperative transesophageal echocardiography, a new technique to assist physicians in dealing with patients with hemodynamic instability during both cardiac and noncardiac surgery.

A Particular Infantile Scimitar Syndrome Variant with Anomalous Systemic Arterial Supply-Inferior Vena Cava Fistula

Scimitar syndrome is a rare congenital cardiovascular malformation that includes a partially anomalous drainage of the pulmonary veins in the inferior vena cava, right pulmonary hypoplasia, and systemic-pulmonary collaterals originating from various segments of the aorta. We present a case of Scimitar syndrome with associated intracardiac lesions and a large arterial conduct supplying the right lung, originating from the abdominal aorta and draining in the inferior vena cava.

POLIESPLENIA E ANOMALIA DO SISTEMA PORTAL HEPÁTICO ASSOCIADAS À AUSÊNCIA DE VEIA CAVA INFERIOR EM CRIANÇA: RELATO DE CASO

Agenesis of inferior vena cava (IVC)is a rare cardiovascular malformation that occurs between the sixth and tenth week of embryogenesis. It may be associated with cardiac and abdominal malformations, besidescomplications such as deep vein thrombosis (DVT). The present study reports the case of a patient randomly diagnosed with total IVC agenesis associated with malformation of the portohepatic system and polysplenia. Female patient, 9 years old, being monitored for hemorrhagic dengue, withcomputed tomographyand abdominal ultrasound revealing anomaly of the development of the hepatic portal system associated with the absence of inferior vena cava with continuation inretrocrural azygos vein, in addition to multiple accessory spleens. When the anastomoses of the IVCprimitive veins are not formed properly, partial or total agenesis of this vessel may occur. Consequently, the blood is diverted to the retrocrural azygos. Identification of these malformations is important for the patients receive proper guidance about DVT prevention, in additionto monitoring them for diagnosis of other possible malformations.

Diagnosis of Fetal Esophageal Atresia by Prenatal MRI and Analysis of Prognostic Factors

Objective To investigate the value of prenatal ultrasound and MRI in the diagnosis of types I and III fetal esophageal atresia (EA), in addition to analyzing the factors related to prognosis. Methods The clinical data regarding six cases of type I and 39 cases of type III EA, with the diagnosis confirmed by postnatal autopsy, MRI, CT, or surgical operation from November 2012 to January 2018, were retrospectively analyzed. Moreover, the prenatal ultrasound and MRI features were summarized. According to the prognosis, 45 fetuses with EA were divided into study (poor prognosis) and control (better prognosis) groups. Logistic regression was used to analyze the prognostic factors. Results The imaging features of 45 EA cases were as follows: Ultrasound features of fetal EA: polyhydramnios (AFI ≥ 25), continuously absent stomach bubble (rechecked 48 hours later), and reduced or no fetal swallowing over 30 minutes; the measured values for fetal head circumference (HC), abdominal circumference (AC), and estimated fetal weight (EFW) were lower than expected according to the clinical gestational age. MRI features: appearance of line-like long T1 and long T2 signals from the fetal neck to the esophagus at the upper mediastinal spinal anterior area; esophageal disconnection, sagging, or the appearance of a visible blind-ended pouch, and disappearance of the stomach bubble. Three cases (6.67%, 3/45) were diagnosed accurately by prenatal ultrasound, while 45 cases (100%, 45/45) were diagnosed accurately by MRI after prenatal ultrasound suggested EA. The incidences of complex cardiovascular malformation, low birth weight ( < 1200 g), EA type (type I), hypoproteinemia, and an esophageal deletion length > 5 cm were significantly higher in the poor prognosis group than those in the better prognosis group ( P < 0 05). Conclusions Due to interference factors such as fetal movement, excessive skin thickness, skeleton, and surrounding tissues and organs, only 6.67% of types I and III EA were directly diagnosed by prenatal ultrasound in the present study. The risk factors for poor prognosis of EA were complex cardiovascular malformation, low birth weight, EA type, hypoproteinemia, and esophageal deletion length > 5 cm; when these ultrasound features were found, performing MRI to diagnose EA and predict prognosis was valuable.

Diagnosis of Fetal Esophageal Atresia by Prenatal MRI and Analysis of Prognostic Factors

Objective To investigate the value of prenatal ultrasound and MRI in the diagnosis of types I and III fetal esophageal atresia (EA), in addition to analyzing the factors related to prognosis. Methods The clinical data regarding six cases of type I and 39 cases of type III EA, with the diagnosis confirmed by postnatal autopsy, MRI, CT, or surgical operation from November 2012 to January 2018, were retrospectively analyzed. Moreover, the prenatal ultrasound and MRI features were summarized. According to the prognosis, 45 fetuses with EA were divided into study (poor prognosis) and control (better prognosis) groups. Logistic regression was used to analyze the prognostic factors. Results The imaging features of 45 EA cases were as follows: Ultrasound features of fetal EA: polyhydramnios (AFI ≥ 25), continuously absent stomach bubble (rechecked 48 hours later), and reduced or no fetal swallowing over 30 minutes; the measured values for fetal head circumference (HC), abdominal circumference (AC), and estimated fetal weight (EFW) were lower than expected according to the clinical gestational age. MRI features: appearance of line-like long T1 and long T2 signals from the fetal neck to the esophagus at the upper mediastinal spinal anterior area; esophageal disconnection, sagging, or the appearance of a visible blind-ended pouch, and disappearance of the stomach bubble. Three cases (6.67%, 3/45) were diagnosed accurately by prenatal ultrasound, while 45 cases (100%, 45/45) were diagnosed accurately by MRI after prenatal ultrasound suggested EA. The incidences of complex cardiovascular malformation, low birth weight ( < 1200 g), EA type (type I), hypoproteinemia, and an esophageal deletion length > 5 cm were significantly higher in the poor prognosis group than those in the better prognosis group ( P < 0 05). Conclusions Due to interference factors such as fetal movement, excessive skin thickness, skeleton, and surrounding tissues and organs, only 6.67% of types I and III EA were directly diagnosed by prenatal ultrasound in the present study. The risk factors for poor prognosis of EA were complex cardiovascular malformation, low birth weight, EA type, hypoproteinemia, and esophageal deletion length > 5 cm; when these ultrasound features were found, performing MRI to diagnose EA and predict prognosis was valuable.

Early Embryonic Expression of AP-2α Is Critical for Cardiovascular Development

Congenital cardiovascular malformation is a common birth defect incorporating abnormalities of the outflow tract and aortic arch arteries, and mice deficient in the transcription factor AP-2α (Tcfap2a) present with complex defects affecting these structures. AP-2α is expressed in the pharyngeal surface ectoderm and neural crest at mid-embryogenesis in the mouse, but the precise tissue compartment in which AP-2α is required for cardiovascular development has not been identified. In this study we describe the fully penetrant AP-2α deficient cardiovascular phenotype on a C57Bl/6J genetic background and show that this is associated with increased apoptosis in the pharyngeal ectoderm. Neural crest cell migration into the pharyngeal arches was not affected. Cre-expressing transgenic mice were used in conjunction with an AP-2α conditional allele to examine the effect of deleting AP-2α from the pharyngeal surface ectoderm and the neural crest, either individually or in combination, as well as the second heart field. This, surprisingly, was unable to fully recapitulate the global AP-2α deficient cardiovascular phenotype. The outflow tract and arch artery phenotype was, however, recapitulated through early embryonic Cre-mediated recombination. These findings indicate that AP-2α has a complex influence on cardiovascular development either being required very early in embryogenesis and/or having a redundant function in many tissue layers.