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Oxford Medical Case Reports Feb 2021Persistent truncus arteriosus is a rare congenital heart disease with four variants, and the last being the rarest. The prognosis without surgical intervention is poor....
Persistent truncus arteriosus is a rare congenital heart disease with four variants, and the last being the rarest. The prognosis without surgical intervention is poor. In such cases, an echocardiography is not sufficient hence computed tomography (CT) imaging is required. We report a 26-year-old female with difficulty in breathing since childhood with cyanosis. Her echocardiography showed a ventricular septal defect (VSD) and the CT showed a single arterial trunk overriding the interventricular septum with a VSD, and the descending aorta giving rise to the pulmonary arteries suggestive of pseudo truncus, known as truncus arteriosus type IV.
PubMed: 33614054
DOI: 10.1093/omcr/omaa144 -
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 -
Journal of Cardiovascular Development... Mar 2021Left ventricular noncompaction (LVNC) is a cardiomyopathy that can lead to arrhythmias, embolic events and heart failure. Despite our current knowledge of cardiac...
BACKGROUND
Left ventricular noncompaction (LVNC) is a cardiomyopathy that can lead to arrhythmias, embolic events and heart failure. Despite our current knowledge of cardiac development, the mechanisms underlying noncompaction of the ventricular myocardium are still poorly understood. The small GTPase acts as a crucial regulator of numerous developmental events. The present study aimed to investigate the cardiomyocyte specific role of in embryonic heart development.
METHODS AND RESULTS
The transgenic mice were crossed with mice to generate mice with a cardiomyocyte specific deletion of () during heart development. Embryonic hearts at E12.5-E18.5 were collected for histological analysis. Overall, hearts displayed a bifid apex, along with hypertrabeculation and a thin compact myocardium. hearts also exhibited ventricular septal defects (VSDs) and double outlet right ventricle (DORV) or overriding aorta. Cardiomyocytes had a rounded morphology and were highly disorganized, and the myocardial expression of Scrib, a planar cell polarity protein, was reduced in hearts. In addition, cell proliferation rate was significantly decreased in the ventricular myocardium at E9.5.
CONCLUSIONS
deficiency in the myocardium impairs cardiomyocyte elongation and organization, and proliferative growth of the heart. A spectrum of CHDs arises in hearts, implicating signaling in the ventricular myocardium as a crucial regulator of OFT alignment, along with compact myocardium growth and development.
PubMed: 33804107
DOI: 10.3390/jcdd8030029 -
Development (Cambridge, England) Mar 2016Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles...
Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants. A late differentiating population of cardiac progenitors, referred to as the anterior second heart field (AHF), gives rise to the outflow tract and the majority of the right ventricle and provides an embryological context for understanding cardiac outflow tract alignment and membranous ventricular septal defects. However, the transcriptional pathways controlling AHF development and their roles in congenital heart defects remain incompletely elucidated. Here, we inactivated the gene encoding the transcription factor MEF2C in the AHF in mice. Loss of Mef2c function in the AHF results in a spectrum of outflow tract alignment defects ranging from overriding aorta to double-outlet right ventricle and dextro-transposition of the great arteries. We identify Tdgf1, which encodes a Nodal co-receptor (also known as Cripto), as a direct transcriptional target of MEF2C in the outflow tract via an AHF-restricted Tdgf1 enhancer. Importantly, both the MEF2C and TDGF1 genes are associated with congenital heart defects in humans. Thus, these studies establish a direct transcriptional pathway between the core cardiac transcription factor MEF2C and the human congenital heart disease gene TDGF1. Moreover, we found a range of outflow tract alignment defects resulting from a single genetic lesion, supporting the idea that AHF-derived outflow tract alignment defects may constitute an embryological spectrum rather than distinct anomalies.
Topics: Animals; Animals, Newborn; Disease Models, Animal; Epidermal Growth Factor; Female; Gene Deletion; Gene Expression Regulation, Developmental; Heart; Heart Defects, Congenital; Heart Septal Defects, Ventricular; Heart Ventricles; Humans; In Situ Hybridization; MEF2 Transcription Factors; Male; Membrane Glycoproteins; Mice; Morphogenesis; Neoplasm Proteins; Organogenesis; Sequence Analysis, RNA; Tissue Distribution; Transcription, Genetic; Transposition of Great Vessels
PubMed: 26811383
DOI: 10.1242/dev.126383 -
European Journal of Cardio-thoracic... Jul 2019Tetralogy of Fallot is characterized by anterocephalad deviation of the outlet septum, along with abnormal septoparietal trabeculations, which lead to subpulmonary...
OBJECTIVES
Tetralogy of Fallot is characterized by anterocephalad deviation of the outlet septum, along with abnormal septoparietal trabeculations, which lead to subpulmonary infundibular stenosis. Archives of retained hearts are an important resource for improving our understanding of congenital heart defects and their morphological variability. This study aims to define variations in aortic override, coronary arterial patterns and ventricular septal defects in tetralogy of Fallot as observed in a morphological archive, highlighting implications for surgical management.
METHODS
The Birmingham Children's Hospital archive contains 211 hearts with tetralogy of Fallot, of which 164 were analysed [69 (42.1%) unrepaired and 95 (57.9%) operated specimens]. A detailed morphological and geometric analysis was performed using a rigorous 5-layer review process.
RESULTS
Anomalies were observed in the orifices, origins and course of the coronary arteries: 20 hearts (13.0%) had more than 2 orifices and 3 hearts (1.9%) had a single orifice. In 7 hearts (4.3%), a coronary artery crossed the right ventricular outflow tract. The extent of aortic override ranged from 31.0% to 100% (median of 59.5%). The ventricular septal defect was most often perimembranous (139, 84.8%), but we also found muscular (14, 8.5%), atrioventricular (7, 4.3%) and doubly committed juxta-arterial (2, 1.2%) variants.
CONCLUSIONS
Anatomical variations are common and can impact surgical management. Anomalous coronary arteries may require a conduit rather than a transannular patch. Variability in aortic override determines the size of patch used to baffle blood to the aorta. The type of ventricular septal defect affects patch closure and the risk of postoperative conduction defects.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Coronary Vessel Anomalies; Coronary Vessels; Female; Humans; Infant; Infant, Newborn; Male; Tetralogy of Fallot
PubMed: 30657877
DOI: 10.1093/ejcts/ezy474 -
Experimental and Therapeutic Medicine Feb 2018The present study aimed to investigate the capabilities of the cardiovascular virtual endoscopy (VE) system in diagnosing tetralogy of Fallot (TOF) and performing...
The present study aimed to investigate the capabilities of the cardiovascular virtual endoscopy (VE) system in diagnosing tetralogy of Fallot (TOF) and performing measurements. A total of 37 patients underwent two-dimensional echocardiography (2-DE) and multi-detector computed tomography (MDCT) examinations. The obtained MDCT images were applied to a cardiovascular VE system. Diagnostic time by VE was first studied and compared with MDCT. Subsequently, with surgical findings as the ground truth, the capabilities of VE, 2-DE and MDCT in diagnosing TOF and its complications were investigated. Additionally, measurements on aorta overriding ratio and diameters for the left pulmonary artery, right pulmonary artery and right ventricular outflow tract by 2-DE and VE were analyzed. Diagnostic time by VE was significantly shorter than MDCT (188±42 vs. 303±42 sec, respectively; P<0.0001). VE, MDCT and 2-DE demonstrated comparable diagnostic rates of TOF (35/37 vs. 34/37 vs. 32/37, respectively; P>0.05). Similar findings were demonstrated in diagnosing complications of the muscular ventricular septal defects, patent ductus arteriosus, vagus subclavian artery, right arch, double superior vena cava and pulmonary artery. Furthermore, in diagnosing the atrial septal defect, 2-DE outperformed MDCT and VE (accuracy, 100 vs. 81 vs. 73%, respectively; all P<0.05). In performing relevant measurements, VE outperformed MDCT and 2-DE, particularly in accessing aorta overriding ratios with no intra-operator difference (P=0.3770) and high consistency (r=0.916). In conclusion, cardiovascular VE was demonstrated to have acceptable accuracy in diagnosing TOF, and possess advantages in shortening the diagnostic time and in performing measurements.
PubMed: 29434740
DOI: 10.3892/etm.2017.5572 -
Medicine Sep 2017Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS...
RATIONALE
Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics.
PATIENT CONCERNS
Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography. Color and spectral Doppler flow imaging were utilized to evaluate the axis, size, situs, cardiac chambers, and both inflow and outflow tracts of the heart as well as the great arteries. Both cases had a severe dilatation of the pulmonary trunk and its branches and an absence or dysplasia of the pulmonary valve, which was associated with subaortic ventricular septal defect (VSD) with an overriding aorta. In addition, the fetus in case 1 showed a patent ductus arteriosus, and the fetus in case 2 showed arterial duct agenesis. Furthermore, color Doppler flow imaging showed a bi-directional multicolored flow signal in the pulmonary valve ring.
DIAGNOSES
Both fetuses were diagnosed with APVS associated with TOF.
INTERVENTIONS
No therapeutic intervention was performed.
OUTCOMES
On the request of the pregnant women and their families, both fetuses were aborted.
LESSONS
Although APVS is a rare congenital heart disease and often associated with TOF, it has an overall poor prognosis. Nowadays, it can be easily diagnosed via ultrasonography because of its typical ultrasonographic features, such as aneurysmal dilatation of pulmonary artery, massive regurgitation of the pulmonary valve, VSD, and an overriding aorta. Therefore, early fetal echocardiography screening should be performed for every fetus.
Topics: Abnormalities, Multiple; Adult; Echocardiography, Doppler; Female; Heart Defects, Congenital; Humans; Pregnancy; Pulmonary Valve; Syndrome; Tetralogy of Fallot; Ultrasonography, Prenatal
PubMed: 28858090
DOI: 10.1097/MD.0000000000007747 -
European Heart Journal. Case Reports Nov 2021The patient is a 15-year-old male with situs inversus, dextrocardia, bilateral superior caval veins, atrioventricular discordance with a single outlet, large...
BACKGROUND
The patient is a 15-year-old male with situs inversus, dextrocardia, bilateral superior caval veins, atrioventricular discordance with a single outlet, large perimembranous ventricular septal defect, aortic override, pulmonary atresia, and right aortic arch. The complex anatomy with a Ventricular Septal Defect (VSD) distant from the aorta (unsuitable for baffling to the aorta) meant he was unsuitable for biventricular repair and proceeded down a univentricular palliation pathway.
CASE SUMMARY
Post-total cavopulmonary connection his clinical course was uneventful until the age of 5 when he developed fatigability with desaturation. An accessory hepatic vein was surgically banded with improved saturations and exercise tolerance. At the age of 15, cardiovascular magnetic resonance (CMR) was performed to investigate borderline saturations and as workup for transition to adult services. Cardiovascular magnetic resonance and cardiac computed tomography (CT) imaging demonstrated an eccentric thrombus causing stenosis of the extracardiac conduit and a thrombus outside of the lumen contained by the thin outer membrane of the Gore-Tex conduit. Collateralization suggested this was longstanding. Cardiac catheterization demonstrated a 4 mm × 6 mm stenosis at the junction of the conduit with the pulmonary arteries. The region was successfully balloon dilated and stented with a 34 mm-long Cheatham Platinum stent, with no complications.
DISCUSSION
To date, this is the first documented case of a dissecting thrombus of a Gore-Tex graft in the literature. This case emphasizes the need for anticoagulation and serial cross-sectional imaging (CT or CMR) in Fontan patients with prosthetic grafts throughout a patients' lifetime.
PubMed: 34746637
DOI: 10.1093/ehjcr/ytab377 -
American Journal of Physiology. Heart... Dec 2018Studies have suggested the effect of blood flow forces in pathogenesis and progression of some congenital heart malformations. It is therefore of interest to study the...
Studies have suggested the effect of blood flow forces in pathogenesis and progression of some congenital heart malformations. It is therefore of interest to study the fluid mechanic environment of the malformed prenatal heart, such as the tetralogy of Fallot (TOF), especially when little is known about fetal TOF. In this study, we performed patient-specific ultrasound-based flow simulations of three TOF and seven normal human fetal hearts. TOF right ventricles (RVs) had smaller end-diastolic volumes (EDVs) but similar stroke volumes (SVs), whereas TOF left ventricles (LVs) had similar EDVs but slightly increased SVs compared with normal ventricles. Simulations showed that TOF ventricles had elevated systolic intraventricular pressure gradient (IVPG) and required additional energy for ejection but IVPG elevations were considered to be mild relative to arterial pressure. TOF RVs and LVs had similar pressures because of equalization via ventricular septal defect (VSD). Furthermore, relative to normal, TOF RVs had increased diastolic wall shear stresses (WSS) but TOF LVs were not. This was caused by high tricuspid inflow that exceeded RV SV, leading to right-to-left shunting and chaotic flow with enhanced vorticity interaction with the wall to elevate WSS. Two of the three TOF RVs but none of the LVs had increased thickness. As pressure elevations were mild, we hypothesized that pressure and WSS elevation could play a role in the RV thickening, among other causative factors. Finally, the endocardium surrounding the VSD consistently experienced high WSS because of RV-to-LV flow shunt and high flow rate through the over-riding aorta. NEW & NOTEWORTHY Blood flow forces are thought to cause congenital heart malformations and influence disease progression. We performed novel investigations of intracardiac fluid mechanics of tetralogy of Fallot (TOF) human fetal hearts and found essential differences from normal hearts. The TOF right ventricle (RV) and left ventricle had similar and elevated pressure but only the TOF RV had elevated wall shear stress because of elevated tricuspid inflow, and this may contribute to the observed RV thickening. TOF hearts also expended more energy for ejection.
Topics: Adult; Female; Fetal Heart; Hemodynamics; Humans; Infant, Newborn; Models, Cardiovascular; Myocardial Contraction; Pregnancy; Tetralogy of Fallot
PubMed: 30216114
DOI: 10.1152/ajpheart.00235.2018 -
Taiwanese Journal of Obstetrics &... Sep 2021We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal...
Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta.
OBJECTIVE
We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities.
CASE REPORT
A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis.
CONCLUSION
QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13.
Topics: Abnormalities, Multiple; Adult; Amniocentesis; Comparative Genomic Hybridization; Female; Fetus; Fingers; Heart Defects, Congenital; Holoprosencephaly; Humans; In Situ Hybridization, Fluorescence; Polydactyly; Polymerase Chain Reaction; Pregnancy; Quantitative Light-Induced Fluorescence; Toes; Trisomy 13 Syndrome
PubMed: 34507670
DOI: 10.1016/j.tjog.2021.07.020