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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 -
Medicina (Kaunas, Lithuania) Jul 2022The most common congenital cyanotic heart disease is described in the literature as the Tetralogy of Fallot. This abnormality is characterized by the presence of...
The most common congenital cyanotic heart disease is described in the literature as the Tetralogy of Fallot. This abnormality is characterized by the presence of ventricular septal defect (VSD), obstruction of the right ventricular (RV) outflow tract, right ventricular hypertrophy, and overriding aorta. In patients with pulmonary atresia with ventricular septal defect (PA/VSD), major aortopulmonary collateral arteries (MAPCA) are common; however, although some of them do not have PA/VSD, they do have other particular anatomical variants. The case we are presenting in this article is a rare mild symptomatic adult noncorrected TOF, with preserved RV function, right aortic arch, and MAPCAs ("classic" thoracic MAPCAs but also abdominal MAPCAs). The anatomy of a complex congenital defect is well illustrated by cardiac magnetic resonance (CMR) and computer tomography angiography (CTA), and these imaging techniques are mostly used to understand the relative clinical "silence" TOF. Imaging scans thus play a key role in the evaluation of these patients, being very important to know the indications and limitations of each method, but also to learn to combine them with each other depending on the clinical picture of the patient's presentation. Additionally, the close collaboration between clinicians and imagers is essential for a correct, complete and detailed preoperative evaluation, being subsequently essential for cardiovascular surgeons, the whole team thus deciding the best therapeutic management.
Topics: Adult; Aorta, Thoracic; Collateral Circulation; Humans; Infant; Pulmonary Artery; Retrospective Studies; Survivors; Tetralogy of Fallot
PubMed: 36013478
DOI: 10.3390/medicina58081011 -
European Heart Journal. Case Reports Dec 2021Although the life expectancy of patients with tetralogy of Fallot (TOF) is comparable to that of the general population due to advancements in surgical intervention, if...
BACKGROUND
Although the life expectancy of patients with tetralogy of Fallot (TOF) is comparable to that of the general population due to advancements in surgical intervention, if untreated, patients with TOF may die during their childhood. However, it has been anecdotally reported that a small number of patients with unrepaired TOF survived into their senescence.
CASE SUMMARY
A 71-year-old man with a history of multiple heart failure admissions was referred to our institute after successful cardiopulmonary arrest resuscitation. Transthoracic echocardiography showed the overriding of the aorta on a large ventricular septal defect and right ventricular hypertrophy, along with severe pulmonary stenosis (PS), all of which indicated unrepaired TOF. Computed tomography revealed a patent Blalock-Taussig shunt, which was constructed at the age of 19 years. Coronary angiography revealed multivessel coronary stenoses. Although radical intracardiac repair was not performed due to his multiple comorbidities, his heart failure symptoms were significantly improved owing to proper medication titration. One year following discharge, the patient was well and enjoyed playing golf.
DISCUSSION
Specific anatomical, functional, and haemodynamic characteristics may be required for the long-term survival of patients with TOF. Pulmonary stenosis should be initially mild to guarantee pulmonary flow during childhood and adolescence, and gradual PS exacerbation should be paralleled with systemic-to-pulmonary collateral development or an extracardiac shunt. Moreover, reduced left ventricular compliance may act as a balancing factor against a right-to-left shunt. The presence of all of these special requirements may have contributed to the unusual survival for this patient.
PubMed: 35047736
DOI: 10.1093/ehjcr/ytab486 -
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 -
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 -
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 -
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 -
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 -
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 -
Indian Journal of Critical Care... Nov 2020Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. We present a 61-year-old uncorrected TOF patient who presented with sepsis and...
UNLABELLED
Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. We present a 61-year-old uncorrected TOF patient who presented with sepsis and acute respiratory failure. At presentation, the patient had tachypnea, tachycardia, and oxygen saturation (SpO) 64%. Chest X-ray (CXR) showed bilateral basal opacities. 2D echo revealed left ventricular dysfunction, infundibulum stenosis, pulmonary atresia, overriding of the aorta, and ventricular septal defect. A provisional diagnosis of community-acquired pneumonia with septic shock with uncorrected TOF was made. He received empirical antibiotics, ventilatory support, and supportive care. Ventilator weaning was done accepting an arbitrary baseline SpO of 70-75% and lactate-guided volume resuscitation led to a successful outcome. Coronary angiogram showed collaterals. This case report illustrates the dilemmas faced in treating a critically ill uncorrected TOF. To the best of our knowledge, this case could be the oldest surviving uncorrected TOF patient in the Indian population.
HOW TO CITE THIS ARTICLE
Prakash SY, Kartik M, Rao M, Harde YR. Challenges Faced in Managing an Adult Uncorrected Tetralogy of Fallot Patient with Pneumonia and Septic Shock in the Intensive Care Unit. Indian J Crit Care Med 2020;24(11):1135-1136.
PubMed: 33384524
DOI: 10.5005/jp-journals-10071-23648