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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 -
Ultrasound in Obstetrics & Gynecology :... Jan 2003Routine use of color Doppler during every fetal cardiac examination remains controversial. Many examiners still believe that color should be reserved for cases of... (Review)
Review
Routine use of color Doppler during every fetal cardiac examination remains controversial. Many examiners still believe that color should be reserved for cases of suspected congenital heart defect (CHD). In our opinion, color Doppler should be applied in every cardiac scan due to the increase in speed and accuracy that it allows. The purpose of this review is to first explain how color Doppler presets can be optimized and, second, to propose the use of three cross-sectional planes to simplify color Doppler fetal echocardiography: the four-chamber (4CV), five-chamber (5CV) and three-vessel (3VV) views. A practical approach to the detection of CHD with these planes is presented, with typical findings and possible abnormalities evident during systole and diastole. The diastolic pattern on the 4CV is characterized by two equal color stripes. Connection ('H'-sign) or size inequality of the two stripes, or a unilateral color stripe, are important abnormal findings. In systole valve regurgitation should be excluded. In the 5CV, turbulent flow, ventricular septal defect or an overriding aorta ('Y'-sign) can be detected. In the 3VV the aorta and pulmonary trunk should be of nearly equal size and demonstrate antegrade flow. Abnormal findings encountered include absence of one vessel, discrepant size of the vessels, retrograde flow in one of the vessels, or the 'U'-sign, where the trachea is enclosed between both vessels, suggesting right-sided aortic arch. In summary, we propose that color Doppler examination utilizing these three planes alone is sufficient to obtain adequate information for the detection of most common CHD.
Topics: Blood Flow Velocity; Diastole; Echocardiography, Doppler, Color; Female; Heart Defects, Congenital; Humans; Pregnancy; Systole; Ultrasonography, Prenatal
PubMed: 12528169
DOI: 10.1002/uog.5 -
Ultrasound in Obstetrics & Gynecology :... May 2011Placental dysfunction leading to fetal growth restriction (FGR) is an important risk factor for neurodevelopmental delay. Recent observations clarify that FGR evolves... (Review)
Review
Placental dysfunction leading to fetal growth restriction (FGR) is an important risk factor for neurodevelopmental delay. Recent observations clarify that FGR evolves prenatally from a preclinical phase of abnormal nutrient and endocrine milieu to a clinical phase that differs in characteristics in preterm and term pregnancies. Relating childhood neurodevelopment to these prenatal characteristics offers potential advantages in identifying mechanisms and timing of critical insults. Based on available studies, lagging head circumference, overall degree of FGR, gestational age, and umbilical artery (UA), aortic and cerebral Doppler parameters are the independent prenatal determinants of infant and childhood neurodevelopment. While head circumference is important independent of gestational age, overall growth delay has the greatest impact in early onset FGR. Gestational age has an overriding negative effect on neurodevelopment until 32-34 weeks' gestation. Accordingly, the importance of Doppler status is demonstrated from 27 weeks onward and is greatest when there is reversed end-diastolic velocity in the UA or aorta. While these findings predominate in early-onset FGR, cerebral vascular impedance changes become important in late onset FGR. Abnormal motor and neurological delay occur in preterm FGR, while cognitive effects and abnormalities that can be related to specific brain areas increase in frequency as gestation advances, suggesting different pathophysiology and evolving vulnerability of the fetal brain. Observational and management studies do not suggest that fetal deterioration has an independent impact on neurodevelopment in early-onset FGR. In late-onset FGR further research needs to establish benefits of perinatal intervention, as the pattern of vulnerability and effects of fetal deterioration appear to differ in the third trimester.
Topics: Blood Flow Velocity; Cerebral Arteries; Child Development; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Placenta; Pregnancy; Ultrasonography, Prenatal; Umbilical Arteries
PubMed: 21520312
DOI: 10.1002/uog.9008 -
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 -
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 -
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