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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 -
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 -
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 -
Developmental Biology Jul 2008Here we report that mouse embryos homozygous for a gene trap insertion in the fibulin-1 (Fbln1) gene are deficient in Fbln1 and exhibit cardiac ventricular wall thinning...
Here we report that mouse embryos homozygous for a gene trap insertion in the fibulin-1 (Fbln1) gene are deficient in Fbln1 and exhibit cardiac ventricular wall thinning and ventricular septal defects with double outlet right ventricle or overriding aorta. Fbln1 nulls also display anomalies of aortic arch arteries, hypoplasia of the thymus and thyroid, underdeveloped skull bones, malformations of cranial nerves and hemorrhagic blood vessels in the head and neck. The spectrum of malformations is consistent with Fbln1 influencing neural crest cell (NCC)-dependent development of these tissues. This is supported by evidence that Fbln1 expression is associated with streams of cranial NCCs migrating adjacent to rhombomeres 2-7 and that Fbln1-deficient embryos display patterning anomalies of NCCs forming cranial nerves IX and X, which derive from rhombomeres 6 and 7. Additionally, Fbln1-deficient embryos show increased apoptosis in areas populated by NCCs derived from rhombomeres 4, 6 and 7. Based on these findings, it is concluded that Fbln1 is required for the directed migration and survival of cranial NCCs contributing to the development of pharyngeal glands, craniofacial skeleton, cranial nerves, aortic arch arteries, cardiac outflow tract and cephalic blood vessels.
Topics: Animals; CD4 Antigens; Calcium-Binding Proteins; Cerebrovascular Circulation; Chromosome Mapping; Crosses, Genetic; Endoplasmic Reticulum; Fetal Heart; Genotype; Heart Ventricles; Immunohistochemistry; Mice; Mice, Knockout; Morphogenesis; Neural Crest; Polymerase Chain Reaction; beta-Galactosidase
PubMed: 18538758
DOI: 10.1016/j.ydbio.2008.04.029 -
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 -
Cureus Dec 2023Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct heart abnormalities, which include an overriding aorta (where the aorta crosses...
Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct heart abnormalities, which include an overriding aorta (where the aorta crosses both ventricles), a ventricular septal defect (VSD), right ventricular hypertrophy (the right ventricle muscle is thickened), and pulmonary stenosis (the pulmonary valve and artery are narrowed). Individuals suffering from TOF may exhibit pinkness, cyanosis at baseline, or episodes of hypercyanosis. The pathoanatomy of the TOF allows blood from the pulmonary and systemic circulations to mix. Cyanosis is caused by the addition of deoxygenated blood from a shunt that runs from right to left to the systemic circulation. In this case report, we present a five-year-old female patient with a known case of TOF. The results were recorded using the Pediatric Quality of Life (PedsQL) Questionnaire, New York Heart Association (NYHA) Dyspnoea Scale, Wong-Baker Faces Pain Rating Scale, and arterial blood gas analysis. Therapy goals were to improve overall functional ability, to remove secretions from airway, and the return of acceptable cardiovascular function. This case report focuses on the success of the cardiorespiratory rehabilitation program based on the patient's current state of health. The outcome parameters confirm that patients can experience improved functional recovery.
PubMed: 38222209
DOI: 10.7759/cureus.50442 -
Radiology Case Reports Dec 2022Tetralogy of Fallot is the most common cyanotic congenital heart disease in children which comprises an overriding aorta, right ventricular outflow obstruction,...
Tetralogy of Fallot is the most common cyanotic congenital heart disease in children which comprises an overriding aorta, right ventricular outflow obstruction, ventricular septal defect, and right ventricular hypertrophy. It has an elevated early mortality rate without surgical correction, with most patients dying in childhood. Only 2% of patients survive past the age of 40 years without surgical intervention. Very few cases of survival to middle age have been reported, particularly after the fourth decade. In this article, we present a case of a 66-year-old male with an unoperated tetralogy of Fallot, which is one of the longest time periods of diagnosis. Despite tetralogy and having right ventricular dysfunction, this patient presented with fatigue, exertional dyspnea, cyanosis, and systemic hypertension. Considering the patient's comorbid conditions and the risk associated with the surgery, the patient was managed conservatively. To our knowledge, this is the oldest unoperated tetralogy of Fallot case reported in Nepal.
PubMed: 36281282
DOI: 10.1016/j.radcr.2022.09.062 -
BMC Medical Genetics Jul 2017Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade,...
BACKGROUND
Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.
METHODS
With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found.
RESULTS
In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart.
CONCLUSION
Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.
Topics: Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Heart Defects, Congenital; Heart Septal Defects, Ventricular; Humans; Intercellular Signaling Peptides and Proteins; Male; Mutation; Nodal Protein; Phenotype; Polymorphism, Single Nucleotide; Signal Transduction
PubMed: 28738792
DOI: 10.1186/s12881-017-0444-1 -
Romanian Journal of Morphology and... 2020The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing...
The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. About 94% of cases with 18q deletion syndrome appearance are de novo, and the remaining 6% are the inherited from a parent carrying a balanced chromosomal translocation. We present the case of a 35-year-old female who was admitted in our Unit for a second ultrasound opinion after being diagnosed at the second trimester scan at gestational age of 21 weeks of pregnancy with multiple brain and heart malformations, having the recommendation for fetal magnetic resonance imaging (MRI). Further investigations included genetic analysis and pathological examination. Major malformations diagnosed and confirmed were agenesis of the corpus callosum, ventriculomegaly with dilated fourth ventricle, partial agenesis of vermis, bilateral anophthalmia with wide nasal base and left cleft lip. Additional, cardiac malformation, with an important ventricular septal defect and overriding aorta were noted. The results of the microarray analysis showed an abnormal fetal karyotype with a loss of 30.5 basis identified in the long arm of chromosome 18. Although most of the cases of 18q deletion are sporadically or de novo, could be cases where the possible existing syndromes can be inherited from a healthy or mild affected parent. Therefore, in order to establish the recurrence risk, parental karyotypes are recommended.
Topics: Adult; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Female; Fetus; Humans; Infant; Phenotype; Pregnancy
PubMed: 33817732
DOI: 10.47162/RJME.61.3.29 -
BMC Developmental Biology Jul 2015Nearly half of all individuals with Down Syndrome (DS) have some type of congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause it. We...
BACKGROUND
Nearly half of all individuals with Down Syndrome (DS) have some type of congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause it. We used a common mouse model of DS, the Ts65Dn mouse, to study the contribution of Tbx5, a known modifier of CHD, to heart defects on a trisomic backgroun. Mice that were heterozygous for a Tbx5 null allele were crossed with Ts65Dn mice. Thoraxes of progeny were fixed in 10% formalin, embedded in paraffin, and sectioned for analysis of CHD. Gene expression in embryonic hearts was examined by quantitative PCR and in situ hybridization. A TBX5 DNA binding site was verified by luciferase assays.
METHODS
Mice that were heterozygous for a Tbx5 null allele were crossed with Ts65Dn mice. Thoraxes of progeny were fixed in 10% formalin, embedded in paraffin, and sectioned for analysis of CHD. Gene expression in embryonic hearts was examined by quantitative PCR and in situ hybridization. A TBX5 DNA binding site was verified by luciferase assays.
RESULTS
We crossed mice that were heterozygous for a Tbx5 null allele with Ts65Dn mice. Mice that were trisomic and carried the Tbx5 mutation (Ts65Dn;Tbx5 (+/-) ) had a significantly increased incidence of overriding aorta compared to their euploid littermates. Ts65Dn;Tbx5 (+/-) mice also showed reduced expression of Pitx2, a molecular marker for the left atrium. Transcript levels of the trisomic Adamts1 gene were decreased in Tbx5 (+/-) mice compared to their euploid littermates. Evidence of a valid binding site for TBX5 upstream of the trisomic Adamts1 locus was also shown.
CONCLUSION
Haploinsufficiency of Tbx5 and trisomy affects alignment of the aorta and this effect may stem from deviations from normal left-right patterning in the heart. We have unveiled a previously unknown interaction between the Tbx5 gene and trisomy, suggesting a connection between Tbx5 and trisomic genes important during heart development.
Topics: Animals; Disease Models, Animal; Down Syndrome; Female; Gene Dosage; Heart Defects, Congenital; Male; Mice; Mice, 129 Strain; Mice, Inbred C3H; Mice, Inbred C57BL; T-Box Domain Proteins; Trisomy
PubMed: 26208718
DOI: 10.1186/s12861-015-0080-y