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Multimedia Manual of Cardiothoracic... 2015Sternotomy is considered to be the gold standard incision in cardiac surgery, resulting in low failure rates and excellent proven long-term outcomes. It can also be used...
Sternotomy is considered to be the gold standard incision in cardiac surgery, resulting in low failure rates and excellent proven long-term outcomes. It can also be used in thoracic surgery for mediastinal, bilateral pulmonary or lower trachea and main stem bronchus surgery. Sternotomy has to be performed properly to avoid short- and long-term morbidity and mortality. The surgical technique is well established and certain principles are recognized to be crucial to minimize complications. The identification of the correct landmarks, midline tissue preparation, osteotomy with the avoidance of injury to underlying structures like pleura, pericardium, innominate vein, brachiocephalic artery and ectatic ascending aorta, and targeted bleeding control are important steps of the procedure. As important as the performance of a proper sternotomy is a correct sternal closure. An override or shift of the sternal edges has to be avoided by placing the wires at a proper distance from each other without injuring the thoracic pedicle. The two sternal halves have to be tightly re-approximated to facilitate healing of the bone and to avoid instability, which is a risk factor for wound infection. With a proper performance of sternotomy and sternal closure, instability and wound infections are rare and depend on patient-related risk factors.
Topics: Bone Wires; Cardiac Surgical Procedures; Humans; Osteotomy; Sternotomy; Wound Closure Techniques
PubMed: 26188337
DOI: 10.1093/mmcts/mmv017 -
Frontiers in Physiology 2022Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns... (Review)
Review
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5-10% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.
PubMed: 36277185
DOI: 10.3389/fphys.2022.1012665 -
Molecular Cytogenetics 2018Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a... (Review)
Review
BACKGROUND
Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome were published in literature. We report the first kindred of rec (4) syndrome analyzed using copy number variation sequencing (CNV-seq).
RESULTS
A woman with two adverse fetal outcomes was described in the present study. The first fetus presented with severe intrauterine growth restriction, hyposarca, hydrothorax and ascites. The CNV-seq revealed a dup 4q and del 4p. The second fetus presented with cardiovascular disease of ventricular septal defect, overriding aorta and persistent trunk. The CNV-seq revealed a dup 4p and del 4q. We collected 18 rec (4) cases through literature review. Genotype-phenotype correlation analysis was also performed.
CONCLUSION
Recombinant 4 syndrome is a rare genetic disorder. It should be divided into two categories according to the alternative recombinant types. The clinical manifestations of rec (4) cases with dup 4q and del 4p are consistent with the Wolf-Hirschhorn syndrome. For cases harboring dup 4p and del 4q, the high incidence of congenital heart disease is prominent.
PubMed: 30166997
DOI: 10.1186/s13039-018-0393-1 -
Cardiovascular Research May 2018Phosphodiesterase 2 A (Pde2A), a cAMP-hydrolysing enzyme, is essential for mouse development; however, the cause of Pde2A knockout embryonic lethality is unknown. To...
AIMS
Phosphodiesterase 2 A (Pde2A), a cAMP-hydrolysing enzyme, is essential for mouse development; however, the cause of Pde2A knockout embryonic lethality is unknown. To understand whether Pde2A plays a role in cardiac development, hearts of Pde2A deficient embryos were analysed at different stage of development.
METHODS AND RESULTS
At the stage of four chambers, Pde2A deficient hearts were enlarged compared to the hearts of Pde2A heterozygous and wild-type. Pde2A knockout embryos revealed cardiac defects such as absence of atrial trabeculation, interventricular septum (IVS) defects, hypertrabeculation and thinning of the myocardial wall and in rare cases they had overriding aorta and valves defects. E14.5 Pde2A knockouts showed reduced cardiomyocyte proliferation and increased apoptosis in the IVS and increased proliferation in the ventricular trabeculae. Analyses of E9.5 Pde2A knockout embryos revealed defects in cardiac progenitor and neural crest markers, increase of Islet1 positive and AP2 positive apoptotic cells. The expression of early cTnI and late Mef2c cardiomyocyte differentiation markers was strongly reduced in Pde2A knockout hearts. The master transcription factors of cardiac development, Tbx, were down-regulated in E14.5 Pde2A knockout hearts. Absence of Pde2A caused an increase of intracellular cAMP level, followed by an up-regulation of the inducible cAMP early repressor, Icer in fetal hearts. In vitro experiments on wild-type fetal cardiomyocytes showed that Tbx gene expression is down-regulated by cAMP inducers. Furthermore, Pde2A inhibition in vivo recapitulated the heart defects observed in Pde2A knockout embryos, affecting cardiac progenitor cells. Interestingly, the expression of Pde2A itself was dramatically affected by Pde2A inhibition, suggesting a potential autoregulatory loop.
CONCLUSIONS
We demonstrated for the first time a direct relationship between Pde2A impairment and the onset of mouse congenital heart defects, highlighting a novel role for cAMP in cardiac development regulation.
Topics: Animals; Apoptosis; Cell Differentiation; Cell Proliferation; Cells, Cultured; Cyclic AMP; Cyclic AMP Response Element Modulator; Cyclic Nucleotide Phosphodiesterases, Type 2; Fetal Heart; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Gestational Age; Heart Defects, Congenital; LIM-Homeodomain Proteins; MEF2 Transcription Factors; Mice, Inbred C57BL; Mice, Knockout; Morphogenesis; Myocytes, Cardiac; Phenotype; Signal Transduction; T-Box Domain Proteins; Transcription Factor AP-2; Transcription Factors; Troponin I
PubMed: 29409032
DOI: 10.1093/cvr/cvy030 -
Frontiers in Pediatrics 2020The pathognomonic feature of tetralogy of Fallot (ToF) is the antero-cephalad deviation of the outlet septum in combination with an abnormal arrangement of the...
The pathognomonic feature of tetralogy of Fallot (ToF) is the antero-cephalad deviation of the outlet septum in combination with an abnormal arrangement of the septoparietal trabeculations. The aim of this article was to study perinatal hearts using Polarized Light Imaging (PLI) in order to investigate the deep alignment of cardiomyocytes that bond the different components of the ventricular outflow tracts both together and to the rest of the ventricular mass, thus furthering the classic description of ToF. 10 perinatal hearts with ToF and 10 perinatal hearts with no detectable cardiac anomalies (control) were studied using PLI. The orientation of the myocardial cells was extracted and studied at high resolution. Virtual dissections in multiple section planes were used to explore each ventricular structure. Contrary to the specimens of the control group, for all ToF specimens studied, the deep latitudinal alignment of the cardiomyocytes bonds together the left part of the Outlet septum (OS) S to the anterior wall of the left ventricle. In addition, the right end of the muscular OS bonds directly on the right ventricular wall (RVW) superior to the attachment of the ventriculo infundibular fold (VIF). Thus, the OS is a bridge between the lateral RVW and the anterior left ventricular wall. The VIF, RVW, and OS define an "inverted U" that roofs the cone between the interventricular communication and the overriding aorta. The opening angle and the length of the branches of this "inverted U" depend however on three components: the size of the OS, the size of the VIF, and the distance between the points of insertion of the OS and VIF into the RVW. The variation of these three components accounts for a significant part of the diversity observed in the anatomical presentations of ToF in the perinatal period.
PubMed: 33072668
DOI: 10.3389/fped.2020.503054 -
Developmental Biology Jul 2015Ventricular septal defects (VSDs) are the most commonly occurring congenital heart defect. They are regularly associated with complex syndromes, including DiGeorge...
Ventricular septal defects (VSDs) are the most commonly occurring congenital heart defect. They are regularly associated with complex syndromes, including DiGeorge syndrome and Holt-Oram syndrome, which are characterised by haploinsufficiency for the T-box transcription factors TBX1 and TBX5, respectively. The histone acetyltransferase monocytic leukaemia zinc finger protein, MOZ (MYST3/KAT6A), is required for the expression of the Tbx1 and Tbx5 genes. Homozygous loss of MOZ results in DiGeorge syndrome-like defects including VSD. The Moz gene is expressed in the ectodermal, mesodermal and endodermal aspects of the developing pharyngeal apparatus and heart; however it is unclear in which of these tissues MOZ is required for heart development. The role of MOZ in the activation of Tbx1 would suggest a requirement for MOZ in the mesoderm, because deletion of Tbx1 in the mesoderm causes VSDs. Here, we investigated the tissue-specific requirements for MOZ in the mesoderm. We demonstrate that Mesp1-cre-mediated deletion of Moz results in high penetrance of VSDs and overriding aorta and a significant decrease in MOZ-dependant Tbx1 and Tbx5 expression. Together, our data suggest that the molecular pathogenesis of VSDs in Moz germline mutant mice is due to loss of MOZ-dependant activation of mesodermal Tbx1 and Tbx5 expression.
Topics: Animals; DiGeorge Syndrome; Gene Expression Regulation, Developmental; Heart; Heart Septal Defects, Ventricular; Heart Septum; Histone Acetyltransferases; Mesoderm; Mice; Mice, Inbred C57BL; Mice, Knockout; Organogenesis; T-Box Domain Proteins
PubMed: 25912687
DOI: 10.1016/j.ydbio.2015.04.011 -
Annals of Biomedical Engineering Dec 2021Mechanical forces are essential for proper growth and remodeling of the primitive pharyngeal arch arteries (PAAs) into the great vessels of the heart. Despite general...
Mechanical forces are essential for proper growth and remodeling of the primitive pharyngeal arch arteries (PAAs) into the great vessels of the heart. Despite general acknowledgement of a hemodynamic-malformation link, the direct correlation between hemodynamics and PAA morphogenesis remains poorly understood. The elusiveness is largely due to difficulty in performing isolated hemodynamic perturbations and quantifying changes in-vivo. Previous in-vivo arch artery occlusion/ablation experiments either did not isolate the effects of hemodynamics, did not analyze the results in a 3D context or did not consider the effects of varying degrees of occlusion. Here, we overcome these limitations by combining minimally invasive occlusion experiments in the avian embryo with 3D anatomical models of development and in-silico testing of experimental phenomenon. We detail morphological and hemodynamic changes 24 hours post vessel occlusion. 3D anatomical models showed that occlusion geometries had more circular cross-sectional areas and more elongated arches than their control counterparts. Computational fluid dynamics revealed a marked change in wall shear stress-morphology trends. Instantaneous (in-silico) occlusion models provided mechanistic insights into the dynamic vessel adaptation process, predicting pressure-area trends for a number of experimental occlusion arches. We follow the propagation of small defects in a single embryo Hamburger Hamilton (HH) Stage 18 embryo to a more serious defect in an HH29 embryo. Results demonstrate that hemodynamic perturbation of the presumptive aortic arch, through varying degrees of vessel occlusion, overrides natural growth mechanisms and prevents it from becoming the dominant arch of the aorta.
Topics: Animals; Aorta, Thoracic; Blood Flow Velocity; Chick Embryo; Hemodynamics; Imaging, Three-Dimensional; Models, Cardiovascular; Morphogenesis; Pharynx; Pulsatile Flow; Tomography, X-Ray Computed; Ultrasonography, Doppler
PubMed: 34117583
DOI: 10.1007/s10439-021-02802-2 -
PloS One 2016To compare multi-detector computed tomography (MDCT) with cardiac catheterization and transthoracic echocardiography (TTE) in comprehensive evaluation of the global...
OBJECTIVE
To compare multi-detector computed tomography (MDCT) with cardiac catheterization and transthoracic echocardiography (TTE) in comprehensive evaluation of the global cardiovascular anatomy in patients with pulmonary atresia with ventricular septal defect (PA-VSD).
METHODS
The clinical and imaging data of 116 patients with PA-VSD confirmed by surgery were reviewed. Using findings at surgery as the reference standard, data from MDCT, TTE and catheterization were reviewed for assessment of native pulmonary vasculature and intracardiac defects.
RESULTS
MDCT was more accurate than catheterization and TTE in identification of native pulmonary arteries. MDCT is also the most accurate test for delineation of the major aortopulmonary collateral arteries. The inter-modality agreement for evaluation of overriding aorta and VSD were both excellent. In the subgroup with surgical correlation, excellent agreement was found between TTE and surgery, and substantial agreement was also found at MDCT.
CONCLUSION
MDCT can correctly delineate the native pulmonary vasculatures and intracardiac defects and may be a reliable method for noninvasive assessment of global cardiovascular abnormalities in patients with PA-VSD.
Topics: Adolescent; Cardiac Catheterization; Child; Child, Preschool; Collateral Circulation; Echocardiography; Female; Heart Septal Defects; Heart Ventricles; Humans; Infant; Male; Multidetector Computed Tomography; Preoperative Care; Pulmonary Artery; Pulmonary Atresia; Retrospective Studies; Ventricular Septum
PubMed: 26741649
DOI: 10.1371/journal.pone.0146380