Aortic Defect Research Articles

Half-Turned Truncal Switch Operation for Transposition of The Great Arteries with Left Ventricular Outflow Obstruction

To address various problems with conventional surgical procedures for transposition of the great arteries with left ventricular outflow obstruction, the aortic translocation procedure has been reconsidered as an alternative surgical procedure. We developed another innovative translocation technique, the half-turned truncal switch operation, to make use of various anatomical characteristics. The truncal block involving both semilunar valves is harvested en bloc and anastomosed to the opposite ventricular outflow tract after a half-turn. Temporarily detached coronary arteries are re-anastomosed to the reversed aortic wall defects. The key advantage of this half-turned truncal switch operation is the creation of hemodynamically faultless right and left ventricular outflow tracts including competent valve functions and a coronary circulation ensured by the posteriorly translocated aortic valve, the maximally used autologous pulmonary valve, and anastomosis of the coronary arteries to the confronting aortic wall defects.

A Rare Case of Primary Posterior Mediastinal Hydatid Cyst with False Aortic Aneurysm

Hydatid cystic disease caused by the parasite Echinococcus granulosus is one of the major health problems in underdeveloped countries. Mediastinal localization is very rare. We report a rare case of hydatid disease in the posterior mediastinum with an enormous aorta defect. The patient underwent vascular graft placement without shunting or bypass.

The choice of tactic for surgical treatment of aortic arch hypoplasia with ventricular septal defect in infants

Aim: to determine the optimal tactic for surgical correction of aortic arch hypoplasia and ventricular septal defect (VSD) in infants based on the comparison of immediate and follow-up outcomes of one- and two-stage repair.Materials and methods. Between 2011 to 2019, 138 patients under the age of one year underwent surgical repair of aortic arch hypoplasia with VSD in the leading Ukrainina cardiosurgical institutions – National M. Amosov Institute of Cardiovascular Surgery Affilated to National Academy of Medical Sciences of Ukraine and Center for Pediatric Cardiology and Cardiac Surgery. Patients were divided into two groups: group I involved 66 (47.8 %) patients who underwent one-stage repai of aortic arch hypoplasia and VSD, group II included 72 (52.2 %) patients with two-stage repair, consisting of aortic arch reconstruction and pulmonary banding at the first stage, and correction of VSD at the second stage.Results. The total hospital mortality was 3.6 % (n = 5). In group I, hospital mortality was 3.0 % (n = 2), in group II – 4.2 % (n = 3), but this difference is not statistically significant (P > 0.05). Follow-up was from 1 month to 11 years. Mortality rate over follow-up period was 0 %. Aortic arch restenosis developed in 16 (11.6 %) patients: 6 (9.1 %) patients in group I and 10 (13.9 %) patients in group II. There was no statistically significant difference in restenosis development between two groups. Compression of the trachea and left main bronchus developed in two patients of group II (2.8 %). There were no residual VSDs which would need repeated repair.Conclusions. Both one-stage and two-stage tactic for surgical treatment of aortic arch hypoplasia with VSD in infants is effective and safe showing good immediate and long-term follow-up results. The study indicates that one- stage correction is more acceptable in infants with hypoplasia of segment C or all aortic arch segments. Stage tactic can be used in hypoplasia of segments B and A.

Frequency and Risk Factors of Purulent Septic Infection among Adults after Different Types of an Open Heart Operations

Relevance. The problem of purulent postoperative septic infection (the hospital acquired infection or HAI) is still one of the main cause of fatal outcomes of patients in cardiac hospitals, which demands significant material costs. The aim of the work is to evaluate the intensity of the epidemic process and risk factors for HAI among adults after various types of open heart surgery.Materials and methods. The study of medical records of 1540 patients over 18 years old, who underwent open heart surgery for the purpose of coronary artery bypass grafting (CABG), prosthetics of valves and elimination of aortic defects, was held. Typical and donozological forms of HAI were taken into account in accordance with the epidemiological standard definition of cases.Results. The incidence rates of typical and donozological forms of HAI in average was 39.6 and 72.7 per 1000 operations. The maximum incidence of HAI was detected after aortic surgery due to urinary tract infection (UTI) and hospital-acquired pneumonia.Conclusions. It was found that the increased incidence of UTI and hospital-acquired pneumonia after aortic surgery is contingent on a longer cardiosurgical operations and, accordingly, a longer stay of patients in the Department of anesthesia and resuscitation, accompanied by artificial ventilation and catheterization of the bladder, than in other cardiac operations

Pharyngeal epithelial deletion of Tbx1 causes caudal pharyngeal arch defect but not cardiac conotruncal anomaly

TBX1 is a major disease gene of 22q11.2 deletion syndrome (22q11.2DS). It is expressed in all three germ layers of pharyngeal apparatus to control the complicated morphogenesis. The haploinsufficiency of pharyngeal endodermal or ectodermal, but not mesodermal Tbx1 causes aortic arch patterning defect. However, the mesodermal deletion of Tbx1 causes much severer pharyngeal and cardiovascular defect than either pharyngeal endodermal or ectodermal Tbx1 deletion does. It is inconsistent with the conventional thought that the invagination of pharyngeal epithelia drives pharyngeal segmentation. Therefore, we asked whether pharyngeal ectodermal and ectodermal Tbx1 can compensate the loss of each other. Here we carefully characterized pharyngeal epithelia-specific Fgf15Cre and Fgf15HspCre lines and used them to perform pharyngeal epithelia-specific deletion. Our data showed that the percentage of E18.5 Fgf15Cre;Tbx1flox/+ embryos with aortic arch patterning defects was similar to that of E10.5 Fgf15Cre;Tbx1flox/+ embryos with the 4th pharyngeal arch artery (PAA) defect, indicating that there is no significant recovery from the initial PAA defect, in contrast to germ line haploinsufficiency. Fgf15Cre;Tbx1flox/flox embryos had hypoplastic caudal pharyngeal arch and defective derivatives, but cardiac OFT development was not affected. The phenotypic spectrum of simultaneous Tbx1 deletion in both pharyngeal ectoderm and endoderm is strikingly similar to what presents with single pharyngeal endoderm or ectoderm-specific deletion of Tbx1. The absence of synergistic effect indicates intimate topographic interactions among pharyngeal endoderm and ectoderm, through which deletion of a gene in one tissue may disrupt the development of adjacent tissues and thereby lead to similar morphological phenotypes in either tissue-specific deletion.

Correction of the aortic arch hypoplasia in newborn babies, suffering complete form of atrio-ventricular septal defect

Objective. Tactics of treatment and results of the hypoplasia of the aortic arch correction in newborn babies with complete form of atrio-ventricular septal defect were studied.
 Маterials and methods. During period from 2011 tо 2019 yrs in 21 patients correction of hypoplasia of aortic arch and atrio-ventricular septal defect were performed. The investigated group consisted of patients with a two-ventricular physiology. The patients, suffering imbalanced form of atrio-ventricular septal defect and with variants of hypoplasia in left parts of the heart, were excluded from the investigation. There were 9 (42.9%) boys and 12 (57.1%) girls. Average age of the patients have constituted (2.3 ± 1.1) mo (from 0.06 до 7.7 mo). Average body mass of the patients have constituted (3.8 ± 1.0) kg (from 2.0 до 5.9 kg). The aortic arch segment was considered a hypoplastic one if a Z-score (Standard Score - standard estimation) shift have constituted lesser than 2.0.
 Results. Hospital lethality have constituted 14.2%. Three newborn babies died: 2 - after first stage of correction, and 1 - after second stage of correction. All the patients, to whom a one-staged correction was done, have survived. The causes of lethality were not connected with method of the aortic arch reconstruction. While performance of echocardiography before discharge from the hospital the pressure gradient on place of the aortic arch plasty have constituted (13.6 ± 6.8) mm Hg at average. Average follow-up period have constituted (2.6 ± 2.1) yrs (from 2 mo tо 8.1 yr). In late follow-up period lethality was absent. In 2 (9.5%) patients in postoperative period reoperations on aortic arch and mitral valve were performed. Tracheal compression as well as the main bronchi compression, neurological complications in late follow-up period were absent.
 Conclusion. For the patients, suffering complete form of atrio-ventricular septal defect in conjunction with hypoplasia of aortic arch the staged correction constitutes a more favorable option, owing good immediate and late results. A staged approach in the treatment is indicated for newborn babies, suffering hypoplasia of distal aortic arch and competent atrio-venticular valves or with small regurgitation. Оne-stage correction is indicated in hypoplasia of aortic arch, pronounced regurgitation on common atrio-ventricular valve and pronounced heart failure.

Impact of chronic kidney disease on long-term outcome of patients with valvular heart defects

IntroductionValvular heart diseases (VHD) are becoming a significant problem in the Polish population. Coexistence of chronic kidney disease (CKD) in patients with VHD increases the risk of death and affects further therapeutic strategy.AimAnalysis impact of CKD on long-term prognosis in patients with VHD.Material and methodsThe inclusion criteria were met by 1025 patients with moderate and severe VHD. Mean observation time was 2528 ± 1454 days.ResultsThe average age of the studied population was 66.75 (SD = 10.34), male gender was dominant 56% (N = 579). Severe aortic valve stenosis (AVS) occurred in 28.2%, severe mitral valve insufficiency (MVI) in 20%. CKD occurred in 37.1% (N = 380) patients mostly with mitral stenosis (50%, N = 16) and those with severe MVI (44.8%, N = 94). During the observational period, 52.7% (N = 540) deaths were noted. Increased risk of mortality was associated mostly with age (OR: 1.02, 95% CI: 1.00–1.03, p < 0.001), creatinine (OR:1.27, 95% CI: 1.12–1.43, p < 0.001), CKD (OR: 1.30, 95% CI: 1.17–1.44, p < 0.001), reduced ejection fraction (EF) (OR: 0.98, 95% CI: 0.97–0.99, p = 0.01) and coexisting of AVS (OR: 1.19, 95% CI: 1.04–1.35, p = 0.01).ConclusionsMitral valve defects more often than aortic valve defects coexist with chronic kidney disease. Regardless of the stage, chronic kidney disease is an additional factor affecting the prognosis in patients with heart defects. Factors increasing the risk of death were age, creatinine concentration and reduced EF. The monitoring of renal function in patients with VHD should be crucial as well as the implementation of treatment at an early stage.

Whole Genome Sequencing Identifies Loci Specifically Associated With Thoracic Aortic Wall Defects in Patients With Abdominal Aortic Aneurysms

The objective of this study was to better understand the pathophysiologic and underlying genetic mechanisms behind two abdominal aortic aneurysm subtypes using computed tomography imaging in combination with whole genome sequencing.

Overexpression of Kif1A in the Developing Drosophila Heart Causes Valvar and Contractility Defects: Implications for Human Congenital Heart Disease.

Left-sided congenital heart defects (CHDs) are among the most common forms of congenital heart disease, but a disease-causing gene has only been identified in a minority of cases. Here, we identified a candidate gene for CHDs, KIF1A, that was associated with a chromosomal balanced translocation t(2;8)(q37;p11) in a patient with left-sided heart and aortic valve defects. The breakpoint was in the 5′ untranslated region of the KIF1A gene at 2q37, which suggested that the break affected the levels of Kif1A gene expression. Transgenic fly lines overexpressing Kif1A specifically in the heart muscle (or all muscles) caused diminished cardiac contractility, myofibrillar disorganization, and heart valve defects, whereas cardiac knockdown had no effect on heart structure or function. Overexpression of Kif1A also caused increased collagen IV deposition in the fibrous network that normally surrounds the fly heart. Kif1A overexpression in C2C12 myoblasts resulted in specific displacement of the F-actin fibers, probably through a direct interaction with G-actin. These results point to a Kif1A-mediated disruption of F-actin organization as a potential mechanism for the pathogenesis in at least some human CHDs.

Ultrosound assessment of the thoracic and abdominal aorta in civil aviation pilots of senior age group

Introduction. Early detection of subclinical atherosclerosis in different arterial vessels, including the main vessel aorta, is important for clinical practice and aeromedical assessment, especially in senior age people. Objective: to evaluate condition of the thoracic and abdominal aorta in civil aviation pilots of senior age group according to ultrasonography. Material. 1189 civil aviation pilots aged 54-68 yrs who underwent routine in-patient examination at the Central Clinical Hospital of Civil Aviation on a regular basis were examined. The average age - 56,75 ± 0,07 years. Methods: ultrasound screening examination was performed for early diagnosis of aortic atherosclerosis. Results. Only 4,7% of civil aviation senior age pilots have not changes in the abdominal and thoracic aorta. The majority of the examined have atherosclerotic lesions of the aortic wall, which was more often in thoracic (93,8%), then in abdominal (22,1%) aorta. However, changes in the abdominal aorta were more significant for the clinical and medical assessment. There were signs of unstable atherosclerotic plaque in the abdominal aorta in two cases (0,2%). Abdominal aortic aneurysm was first diagnosed in two pilots (0,2%). Atherosclerotic aortic defect (stenosis and insufficiency) was identified in one 59-year-old pilot (0,1%). Conclusion. Five pilots were unfit (0,5%) and 44 pilots were needed in thorough further follow-up observation due to identified changes (dilatation of the thoracic aorta - 31 pilots and abdominal aorta - two pilots, atherosclerotic plaques in the abdominal aorta - 11 pilots). According this data screening evaluation for detection of atherosclerosis as in the thoracic aorta, as in the abdominal aorta is useful for pilots of senior age group.

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. We measured the aortic diameters in 15 KO male mice, 5 for each LSD: 5 GLA-/- mice for FD, 5 NAGLU-/- mice for MPS IIIB, 5 GAA-/- mice for PD, and 15 wild type (WT) mice: 5 for each strain. In order to compare the aortic parameters between KO and WT mice deriving from the same colonies, different diameters were echocardiographically measured: aortic annulus, aortic sinus, sino-tubular junction, ascending aorta, aortic arch and descending aorta. Storage material content and aortic defects of the KO mice were also analyzed by histology, when available. Compared to their correspondent WT mice: GAA-/- mice showed greater diameters of ascending aorta (1.61mm vs. 1.11mm, p-value = 0.01) and descending aorta (1.17mm vs 1.02mm, p-value 0.04); GLA-/- mice showed greater diameters of aortic annulus (1.35mm vs. 1.22mm, p-value = 0.01), sinus of Valsalva (1.6mm vs. 1.38mm, p-value<0.01), ascending aorta (1.57mm vs. 1.34mm, p-value<0.01), aortic arch (1.36mm vs. 1.22mm, p-value = 0.03) and descending aorta (1.29mm vs. 1.11mm, p-value<0.01); NAGLU-/- mice showed greater diameters of sinus of Valsalva (1.46mm vs. 1.31mm, p-value = 0.05), ascending aorta (1.42mm vs. 1.29mm, p-value<0.01), aortic arch (1.34mm vs. 1.28mm, p-value<0.01) and descending aorta (1.18mm vs. 1.1mm, p-value 0.01). We evaluated for the first time the aortic diameters in 3 LSD mouse models and identified different aortopathy patterns, in concordance with recent human findings. Our results are relevant in view of using KO mouse models for efficiently testing the efficacy of new therapies on distinct cardiovascular aspects of LSDs.

Calcific aortic stenosis: known facts and promising studies

Calcific aortic stenosis is a common heart disease and the most common cause of surgical interventions on heart valves in old age. Eliminated course, nonspecific clinical symptoms, and late patients seeking surgical help, lead to high mortality, reaching 50 % over the next 5 years. Despite the frequent occurrence, our knowledge of this type of aortic defect remains incomplete. About 300 years ago A. Bonnet first described defect as a random isolated pathological finding in the corpse of a Parisian tailor. Later, R. Virchow designated ectopic calcification / ossification as the main cause of the development of the disease and put forward the theory of hematogenous drift. In 1904, J. G. Monckeberg considered calcific aortic stenosis a manifestation of “senile degeneration” of valves and blood vessels. W. S. Roberts retrospectively correlated the classic triad of symptoms with the time of death of patients with aortic stenosis. The progress of cardiac surgery in the middle of the 20 th century made it possible to describe in detail ectopic calcification as an active, progressive, recurrent and potentially modifiable process. In the works of the staff of the Nesterov’s department of facultative therapy demonstrated a high incidence of the disease in the population of the Russia. The main reason for the development of symptoms is a progressive obstruction of the exit tract of the left ventricle of the heart, its uneven hypertrophy, rhythm and conduction disturbances in combination with concomitant arterial hypertension and other comorbidities. A change in the nature of systolic murmur, underestimation of symptoms by doctors and patients themselves, the ambiguity of echocardiography data lead to late diagnosis of the disease and untimely surgical treatment. Disturbances of calcium and bone metabolism significantly reduce the functional status of patients, including due to an adverse effect on cardiac hemodynamics. Modern molecular genetic studies are aimed at finding possible ways to control a systemic inflammatory reaction, suppress lipid peroxidation, inhibit calcification and modify the osteogenic potential of interstitial cells of heart valves.

Results of correction of aortic valve defects using small‑diameter «BioLAB» xenopericardial prosthesis in old patients

A prosthesis-patient mismatch (PPM) describes a state in which the valve prosthesis implanted during surgery is too small in relation to the patient’s body size. This leads to high transvalvular pressure gradients. We investigate direct results and dependence of transvalvular pressure gradients on body mass index and surface area in patients after correction of aortic valve defects using small-diameter BioLAB prosthesis. Material and methods . From January 2011 to August 2018, 65 small-diameter (18, 20) BioLAB scaffold xenopericardial prostheses were implanted in aortic position at the Department of Emergency Surgery for Acquired Heart Defects, Bakulev National Medical Research Center of Cardiovascular Surgery. The average age of the patients was 75.4 ± 4.1 (65–86 years). The average patient body mass index was 25.74 ± 5.11 kg/m2 (19.57–39.54). The average body surface area was 1.79 ± 0.15 (1.54–2.18). Results . Isolated aortic valve replacement was performed in 38 (58%) patients, the rest of the surgeries were combined with other techniques. There were no reoperations due to early prosthetic endocarditis or prosthetic dysfunction in hospital. Hospital mortality was 6% (4 patients). Correlation dependence of peak pressure prosthesis gradient on body surface area and body mass index was 10% and 8%, respectively. Conclusions . This study confirmed the safety and effectiveness of using small-diameter BioLAB scaffold xenopericardial prostheses in aortic valve position.

Molecular Detection of Mutations in mtCOX1 Gene in Iraqi Patients with Aortic and Mitral Valve Diseases

Many evidences suggest that aortic and mitral valve diseases are not a direct result of aging but may be linked to various genetic factors. This study was designed to determine the potential role of mutations in certain mitochondrial genes and their association with aortic and mitral valve disease. The study included 31 patients , 16 with aortic valve defect and 15 mitral valve patients in addition to 20 healthy volunteers as comparative group. The results of the molecular analysis showed that there were 11 mutations of those with an aortic valve, seven silent mutations and two mutations recorded for the first time in the present study at the sites m.6922 G>T; p.W340L, m.6690 G> C; p.G263R and deletion mutation at m.6936 delA site recorded at the clinical variation site with accession number SCV000845763 and one insertion mutation at m.6908 insG site and registered with accession number SCV000845764. The results of the study recorded 12 mutations of the mitral valve eight silent mutations and the other significant mutations at sites m.6253 T>C; p.M117T, m.6366G>A; p.V155I, m.6690G> C; p.G263R and deletion mutation m.6607 insT site registered with the accession number SCV000852048.

The Impact of Complex Preoperative Preparation of Patients with Aortic Heart Diseases on the Level of Postoperative Anemia

In patients undergoing surgical treatment of aortic heart defects under artificial circulation, pre-operative correction of serum iron levels, and application of blood-saving techniques during surgery reduce the level of postoperative anemia. The aim. To investigate the combined influence of preoperative correction of serum iron levels and blood-saving techniques in the early postoperative anemia in the surgical treatment of aortic heart defects under artificial circulation. Material and methods. This study involves 133 patients with acquired aortic heart diseases undergoing surgical treatment under artificial circulation and aims at identifying the combined effect of preoperative correction of serum iron (III) hydroxide levels and blood-saving techniques on the level of postoperative anemia. The levels of iron, transport enzymes, blood corpuscles, Hb and Ht were investigated. All the patients were divided into 3 groups. Group A (control group) included 52 patients in whom iron levels were within the normal range and donated blood components were used during the intervention. Group B (study group) included 43 patients in whom iron levels were within the normal range and blood-saving techniques were used during the intervention. Group C (adjustment group) included 38 patients with low iron levels and anemia, which was interpreted as anemia of chronic disease (ACD). Preoperative correction of serum iron levels and intraoperative blood-saving techniques were applied in this group. Results. For the purpose of perioperative anemia correction, transfusion of 539.8 ± 9.1 ml (p¤0.05) of packed red blood cells and 582.4 ± 77.2 ml (p¤0.05) of fresh frozen plasma was given in Group A patients. In the Group B, the use of blood-saving techniques during the intervention allowed us to obtain good clinical effect without perioperative transfusion of blood products. It was established that in Group C preoperative correction of serum iron enabled to achieve 5.6 times higher level of serum iron (p¤0.05), 2 times higher transferrin saturation, and 7.3 times higher ferritin activity (p¤0.05), as well as increase preoperative Hb level by 9.5 % and decrease postoperative anemia by 8.7 %. Conclusions. Correction of low baseline serum iron in patients with chronic anemia (ACD) provides 5.6 times increase in preoperative serum iron (SI) (p¤0.05), increases hemoglobin by 9.5% (p¤0.05), and reduces the level of postoperative anemia in patients undergoing surgical treatment of aortic heart defects under artificial circulation with the use of blood-saving techniques and without the use of donor blood and Cell Saver.

Right Aortic Arch with Mirror Image Branching and Situs Solitus: A case report on anatomic variation

During a routine cadaver dissection performed by first year medical students at Oakland University William Beaumont School of Medicine, a 60‐year‐old female cadaver was found to have right aortic arch with mirror image branching (RAMI). The descending aorta was observed to pass to the right of the midline and subsequently to cross left, anterior to the esophagus, returning to its typical orientation at the aortic hiatus. This defect involves a mirror image branching in which a left brachiocephalic trunk, right common carotid artery, and right subclavian artery emerging directly from the aortic arch proximal to distal. The right recurrent laryngeal nerve passes under the aortic arch while the left recurrent laryngeal nerve was located more superiorly, passing underneath the left subclavian artery. The heart presented in its typical orientation with the apex located to the left of midline with no noted abnormalities of the pulmonary trunk or vascular ring surrounding the trachea. The aortic arch was studied in 24 formalin fixed cadavers (13 female, 11 male, average age 80) which had been dissected by first year medical students. Only 1 of the 24 specimens (4.17%) had a congenital aortic arch and branching defect while the remaining 23 did not display any aortic arch or branching abnormalities. After review of the published clinical literature, this variation appears consistent with RAMI and situs solitus which has been found in &lt;0.1% of the general population. Studies have shown that 75–85% of cases with this defect are associated with cyanotic congenital heart disease, which makes early detection and follow‐up with pediatric cardiology essential. Other considerations for cardiac patients presenting with RAMI and situs solitus include accurate procedural imaging to provide safe and effective interventional care.

Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development

Laterality disease is frequently associated with congenital heart disease (CHD). However, it is unclear what is behind this association, a pleiotropic effect of common genetic causes of laterality diseases or the impact of abnormal left-right patterning on the downstream cardiovascular development. MEGF8 is a disease gene of Carpenter syndrome characterized by defective lateralization and CHD. Here we performed spatial and temporal deletion to dissect the tissue and time requirements of Megf8 on cardiovascular development. None of conditional deletions in cardiomyocytes, endothelium/endocardium, epicardium, cardiac mesoderm or neural crest cells led to cardiovascular defects. More surprisingly, temporal deletion with a ubiquitous Cre driver at embryonic day 7.5 (E7.5), a time point before symmetry break and cardiogenesis, causes preaxial polydactyly (PPD) and exencephaly, but not laterality and cardiovascular defects. These data suggested that Megf8 was dispensable for cardiac organogenesis. Only with E6.5 deletion, we observed aortic arch artery defects including right aortic arch, an indicator of reversed left-right patterning. The concurrence of laterality and cardiovascular defects in pre-streak stage deletion rather than cardiac organogenesis stage deletion indicates that the laterality defect may directly impact heart development. Interestingly, the latent effect of Megf8 on the left-right patterning suggests that the regulation of laterality may be much earlier than we previously thought.

Solo Smart stentless bioprosthesis for extensive aortic annular defects caused by infective endocarditis.

The optimal valve and prosthesis in patients with aortic valve infective endocarditis with annular abscess is controversial. If extensive annular defects occur after debridement, standard techniques are difficult; more complex aortic root replacement (ARR) or aortic valve translocation technique are inevitable. The Solo Smart stentless bioprosthesis is specially designed for supra-annular implantation without annular stitches. Nineteen patients with active aortic valve infective endocarditis underwent aortic valve replacement in the past 3 years. Of these, we performed aortic valve replacement using the Solo Smart valve in four patients with extensive annular destruction and complex aortic root pathologies requiring reconstruction. Although more than two-thirds of the annular structure was missing after radical debridement of infected tissues, supra-annular aortic valve replacement with the Solo Smart valve could be performed successfully in all four patients. All patients are doing well without prosthetic valve dysfunction and/or recurrent infection. The supra-annular aortic valve replacement using the Solo Smart valve is considered to be a useful alternative to standard aortic valve replacement in patients complicated with extensive annular defect. It is a simple and technically less demanding alternative to ARR or aortic valve translocation technique.

Molecular Detection of Mutations in mtCOX1 Gene in Iraqi Patients with Aortic and Mitral Valve Diseases

Many evidences suggest that aortic and mitral valve diseases are not a direct result of aging but may be linked to various genetic factors. This study was designed to determine the potential role of mutations in certain mitochondrial genes and their association with aortic and mitral valve disease. The study included 31 patients , 16 with aortic valve defect and 15 mitral valve patients in addition to 20 healthy volunteers as comparative group. The results of the molecular analysis showed that there were 11 mutations of those with an aortic valve, seven silent mutations and two mutations recorded for the first time in the present study at the sites m.6922 G>T; p.W340L, m.6690 G> C; p.G263R and deletion mutation at m.6936 delA site recorded at the clinical variation site with accession number SCV000845763 and one insertion mutation at m.6908 insG site and registered with accession number SCV000845764. The results of the study recorded 12 mutations of the mitral valve eight silent mutations and the other significant mutations at sites m.6253 T>C; p.M117T, m.6366G>A; p.V155I, m.6690G> C; p.G263R and deletion mutation m.6607 insT site registered with the accession number SCV000852048.

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BackgroundTAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variants within TAB2 were reported associated with CHD, only two of them are nonsense mutations.Case presentationHere we describe a three-generation Chinese family that included five CHD patients with heart valvular defects, such as mitral or tricuspid valves prolapse or regurgitation, and aortic valve stenosis or regurgitation. Our proband was a pregnant woman presenting with mitral, tricuspid, and aortic defects; her first child experienced sudden cardiac death at the age of 2 years. Whole-exome sequencing of the proband revealed a novel nonsense variant in TAB2 (c.C446G, p.S149X), which results in the elimination of the majority of C-terminal amino acids of TAB2, including the critical TAK1-binding domain. The variant was identified in five affected patients but not in the eight unaffected family members using Sanger sequencing and was classified as “pathogenic” according to the latest recommendation on sequence variants laid out by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.ConclusionWe described a family with CHD caused by a novel TAB2 nonsense mutation. Our study broadens the mutation spectrum of TAB2; to the best of our knowledge, this is the first report of a pathogenic mutation within TAB2 in a Chinese population.