Congenital Cardiac Abnormalities Research Articles

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between the NAA10 and NAA15 variants. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.

Nuchal translucency in pregnant women beyond 35 years and its relation to congenital cardiac abnormalities: A cross-section study

Nuchal translucency in pregnant women beyond 35 years and its relation to congenital cardiac abnormalities: A cross-section study

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

NAA10 -related (Ogden Syndrome) and NAA15 -related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. While there is much data on the clinical manifestations of these conditions, there are few radiologic reports describing the neuroanatomical abnormalities present on imaging. Our goal was to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15 -related neurodevelopmental symptoms and assess severity, common radiologic anomalies, and changes over time to better understand the pathophysiology of these disease processes. Neuroimaging studies from 26 probands (18 with pathogenic variants in NAA10 , 8 with pathogenic variants in NAA15 ) were collected and analyzed. Size of the cerebrum, brainstem, and cerebellum, as well as myelination, brain malformations, globus pallidus hyperintensity, brain lesions, 4th ventricle size, tegmentovermian angle, cisterna magna size, pituitary size, olfactory tract, palate arch, and choroid plexus abnormalities were analyzed. In depth medical histories were also collected on all probands, including genetic testing results and social, cognitive, and developmental history. The Vineland 3 Adaptive Behavior Scale was also administered to the parents to assess functional status of the probands. On average, individuals with Ogden Syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15 related neurodevelopmental syndrome had 2.8 (SD = 2.3) (p = .02). Probands who had more anatomical abnormalities tended to score worse on Vineland assessments, suggesting a possible correlation between the two. Structural-functional anatomic differences seen were preserved such that individuals with greater defects on, for example, motor regions of their scans tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with NAA10 variants in our cohort. Despite clinical imaging being reported as being predominantly "normal" during routine clinical care, this analysis of a cohort of patients with NAA10 -related (Ogden Syndrome) and NAA15 -related neurodevelopmental syndrome by one neuroradiologist has established a range of subtle abnormalities. We hope these findings guide future research and diagnostic studies for this patient population.

Partial Anomalous Pulmonary Venous Connection with Ventricular Septal Defect and Intact Atrial Septum

Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital cardiac abnormality in which the pulmonary veins drain into the right atrium directly or the superior vena cava 90% of PAPVC are accompanied by atrial septal defect. However, PAPVC with ventricular septal defect is a rare entity.

BRIDGING GAPS: ADDRESSING TREATMENT CHALLENGES WITH ORAL PGE2 IN DUCTUS-DEPENDENT CONGENITAL HEART DEFECTS

circulation. During fetal development, it diverts approximately 90% of the right ventricular output from the high-resistance pulmonary circulation to the umbilical-placental circulation for gas exchange with maternal blood. After birth, the ductus arteriosus usually shuts within 72 hours to help with lung circulation. Failure to close leads to a persistent left-to-right shunt known as patent ductus arteriosus (PDA). PDA affects up to 80% of premature infants and constitutes 5–10% of all congenital cardiac abnormalities in term infants. Hemodynamically significant PDA is associated with various morbidities, including neurodevelopmental impairment and respiratory distress syndrome (Slaughter et al., 2019). Conversely, in ductus-dependent heart lesions, which account for 20–25% of all congenital heart defects, it is crucial to maintain patency of the neonatal DA to uphold life-saving pulmonary or systemic circulation before corrective surgery (Subramaniam and Solomon, 2013). Treatment for closing patent ductus arteriosus (PDA) mostly involves nonsteroidal anti-inflammatory medicines (NSAIDs) such as indomethacin and ibuprofen, which block cyclooxygenase enzymes necessary for prostaglandin production. Although effective, NSAIDs carry dangers such as renal impairment and intestinal problems. Acetaminophen is considered a safer option, although its effectiveness in premature infants is unclear because it may not fully inhibit prostaglandin synthesis. However, few medications exist for preserving ductus arteriosus (DA) patency, with prostaglandin E1 (PGE1) being the sole pharmacological option despite its associated side effects, such as peripheral vasodilation, apnea, fever, and physiological disturbances (Sear, 2019). Furthermore, the shortage of PGE1 in certain countries like Pakistan highlights the urgent need for alternate solutions. In such situations, adopting other available choices like PGE2, which is accessible in Pakistan as an oral drug, becomes crucial for the efficient management of ductus-dependent congenital heart anomalies. Prostaglandin E2 (PGE2) has been successfully utilized orally in newborns with ductus-dependent cyanotic congenital heart disease. In research by Silove et al., PGE2 was supplied orally in doses ranging from 12 to 65 micrograms/kg at 1 to 4 hours intervals. This treatment regimen resulted in consistent increases in oxygen saturation (SaO2) and plasma PGE2 concentrations within 15-30 minutes after administration, equivalent to those achieved with intravenous infusions. Treatment lasted for durations ranging from 5 days to 4 months, during which the ductus remained open for extended periods, allowing for delayed surgical intervention to support the growth of the infants and their pulmonary arteries. While adverse effects during oral medication were similar to those found with intravenous administration, they were generally less severe in this series, underlining the effectiveness and simplicity of oral PGE2 administration for long-term treatment (Nabavi et al., 2019). Furthermore, a 1987 study by B.D. Thanopoulos et al. supported the effectiveness of oral PGE2 in the treatment of neonates with cyanotic congenital heart disease, which primarily depends on the ductus. The data from this investigation revealed that oral PGE2 treatment, while less productive than intravenous infusions, nonetheless proved useful for long-term therapy, affording more convenience and lower morbidity (Fernández-Francos et al., 2021). It is crucial to highlight that side effects such as apnea and hypotension may occur in newborns following PGE2 therapy and require close monitoring during treatment. In conclusion, oral PGE2 offers a viable alternative for addressing congenital heart defects in resource-limited countries like Pakistan. Its effectiveness and convenience make it a viable choice, especially if access to injectable drugs is limited. This underlines the necessity to investigate alternative treatments for appropriate care in such circumstances.

A Narrative Review on Management of Cyanosis in Neonates

A bluish coloring of the skin or mucous membrane that is characteristic of the medical condition cyanosis can be visible around the lips, fingers, and toes. It is one of the indications of respiratory distress in infants that can be brought on by inadequate circulation and low levels of oxygenated blood. There are two basic causes of cyanosis, cardiac and pulmonary. Medical professionals are constantly very concerned about accurately diagnosing and treating newborns with congenital heart disease (CHD), despite the fact that prenatal diagnostic methods have significantly improved. Although they are physiologically entirely different from one another, ductus dependent congenital cardiac abnormalities can be divided into the ductus dependent systemic or pulmonary sickness. When developing the treatment plan, the clinical state and cardiac abnormalities must be taken into consideration. Many life-threatening conditions may not show signs right away after delivery, and the majority of clinical and physical symptoms are ambiguous, which makes a diagnosis difficult. Careful evaluation is required, and when clinical data, electrocardiograms, and chest X-rays are used. The newborn must be identified as being at such high risk right once, and prompt medical attention is essential to reducing mortality and morbidity

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype-phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management.

Current use of real-time three-dimensional transthoracic echocardiography in animals

This review includes 36 studies of transthoracic real-time three-dimensional echocardiography (RT3DE) in animals. Most of these studies concern cardiac chamber quantification of the left atrium and left ventricle, in dogs. Comparisons of RT3DE and different two-dimensional echocardiographic (2DE) methods have been reported in dogs with myxomatous mitral valve disease (MMVD), dilated cardiomyopathy, and in healthy control dogs. Comparisons of RT3DE and standard reference methods have been reported in healthy control dogs. In dogs with MMVD, volumetric RT3DE measurements of left atrium do not appear to provide superior prognostic value compared with 2DE methods using Simpson's method of discs in dogs with MMVD. The major advantages of RT3DE compared to 2DE include improvements in visualization of the complex morphology of the mitral valve, the estimation of mitral valve regurgitation, and improved visualization of complex congenital cardiac abnormalities.

Atrial septal defect patients have an elevated risk for infective endocarditis

Abstract Background It has been unclear whether simple atrial septal defect (ASD) is an independent risk factor for infective endocarditis (IE). This study aimed to untangle the risk of endocarditis in a large nationwide cohort. Methods We acquired data from the Finnish hospital discharge register on all individuals with ASD diagnosis from 1969 to 2019. Patients with complex congenital cardiac abnormalities were ruled out. Five individualized controls from the general population were matched to the ASD patient's birth year, sex, and residence at the index date. All the patients with ICD-8, -9, or -10 diagnosis codes for IE were gathered from the hospital discharge registry. Results After exclusion, 8322 ASD patients and 39 237 individualized controls were enrolled in the study. Median follow-up was 21.6 years (IQR 11.8-36.9) from the first hospital contact. In total, 24 (16 male) cases of infective endocarditis among ASD patients and 10 (8 male) cases among controls were diagnosed during the follow-up. The incidence of endocarditis was 0.11 per 1000 person-years in the ASD patients and 0.011 per 1000 person-years in the controls. The adjusted risk ratio for endocarditis was 13.51 (95% CI: 6.20–29.46) in ASD patients compared to the control cohort. Patients with ASD and endocarditis had higher long-term mortality than individualized control patients (MRR 2.25, 95% CI: 1.23-4.11). Conclusions The incidence of endocarditis in atrial septal defect patients is higher than in the general population, and ASD seems to carry an increased risk of developing endocarditis.Cumulative incidence of endocarditisSurvival after endocarditis diagnosis

Enhanced expression of iNOS is associated with aortic valve stenosis in patients with bicuspid aortic valve

Abstract Background A congenital bicuspid aortic valve (BAV) is one of the most common congenital cardiac abnormalities, with a prevalence estimated between 0.5% and 2%. Aortic valve stenosis (AS) is the most common complication in patients with BAV. The mechanisms responsible for the rapid progression of AS in patients with BAV relative to those with a tricuspid aortic valve (TAV) are unknown. A previous study showed that the pathogenesis of AS in patients with BAV is associated with a more aggressive inflammatory process, with increased macrophage infiltration and neo-vascularization when compared with that seen in patients with TAV. A considerable number of human diseases have an inflammatory component, and a key mediator of immune activation and inflammation is inducible nitric oxide synthase (iNOS). Overexpressed iNOS has been implicated in the pathogenesis of numerous conditions, including coronary plaque destabilization. To elucidate the role of iNOS in the aortic valve of patients with AS, we carried out an immunohistochemical study of the presence of iNOS in aortic valve specimens from patients with AS with either TAV or BAV. Methods Frozen aortic valve samples were obtained surgically from patients with AS with TAV (n=34) or BAV (n=34), and stained with antibodies against macrophages, microvessels, iNOS and 4-hydroxy-2-nonenal (4-HNE), an index of lipid peroxidation. The immunoreactivity of macrophages, microvessels, iNOS and 4-HNE was quantified using computer-aided polarimetry. Double immunostaining was also performed to identify cell types that stained positive for iNOS. Results Quantitative analysis demonstrated that macrophage-, iNOS-, and 4-HNE-positive areas, as well as the number of microvessels, were significantly higher in patients with AS with BAV than with TAV (macrophages, P<0.001; microvessels, P<0.05; 4-HNE, P<0.05; iNOS, P<0.001). The iNOS-positive area was positively correlated with the 4-HNE-positive area (R=0.43, P<0.0001). Double immunostaining for both iNOS and macrophages identified iNOS-positive cells as macrophages. Conclusions These findings suggest that accumulation of iNOS in macrophages may increase oxidative stress and contribute to the rapid progression of AS in patients with BAV.

CPT 2024: Coding Changes for Cardiac Imaging Services

New codes will be implemented for services performed on and after January 1, 2024, for imaging performed to evaluate congenital cardiac abnormalities. Changes to codes for cardiac imaging in Current Procedural Terminology (CPT®) in 2024 include the following: Diagnostic intraoperative epicardial cardiac ultrasound (eg, echocardiography) for congenital heart disease Venography for congenital heart defect(s) This article provides an overview of the new codes and reporting instructions. Please see your CPT 2024 reference for more information.

Coils embolization use for coronary procedures: Basics, indications, and techniques.

The use of coils is fundamental in interventional cardiology and can be lifesaving in selected settings. Coils are classified by their materials into bare metal, fiber coated, and hydrogel coated, or by the deliverability method into, pushable or detachable coils. Coils are delivered through microcatheters and the choice of coil size is important to ensure compatibility with the inner diameter of the delivery catheter, firstly to be able to deliver and secondly to prevent the coil from being stuck and damaged. Clinically, coils are used in either acute or in elective setting. The most important acute indication is typically the sealing coronary perforation. In the elective settings, coils can be used for the treatment of certain congenital cardiac abnormalities, aneurysms, fistulas or in the treatment of arterial side branch steal syndrome after CABG. Coils must always be delivered under fluoroscopy guidance. There are some associated complications with coils that can be acute or chronic, that nictitates regular followed-up. There is a need for education, training and regular workshops with hands-on to build the experience to use coils in situations that are infrequently encountered.

A Rare Case Report on Incidental Finding of the Bland-White- Garland Syndrome in Infant Presenting With Congenital Coronary Artery Defect

We have a report on an uncommon congenital coronary artery anomaly A congenital heart condition called aberrant the pulmonary artery serves as the left coronary artery's point of origin (ALCAPA) causes this. 90% of infant deaths are brought on as a result of the first year of life is when myocardial infarction and congestive heart failure occur, The newborn type of ALCAPA syndrome and the adult type are two distinct manifestations of the condition. The adult type may be a significant factor in sudden cardiac death. Rare congenital coronary anomaly ALCAPA has a high fatality rate; another name for ALCAPA is Bland-White-Garland Syndrome. A 3-month-old female baby presented to our outpatient department with a complaint of wheeze sound, cold, purple skin colour are appeared due to crying called cyanosis, disturbed suck rest suck cycle and forehead sweating called hyperhidrosis on time of feeds. This case report highlights the ALCAPA; she was treated as a case of (ALCAPA) repair and got intermittent relief in the suck cycle, a rare congenital cardiac abnormality ALCAPA occurs at an incidence of 1 in every 300,000 live births. And the congenital heart defect comprising coronary arteries is 0.25%-0.5%.

Frequency of Congenital Cardiac Conditions in Children Born to Diabetic Moms

Introduction: The foetal cardiovascular system is teratogenically affected by maternal diabetes. Because of this, cardiovascular abnormalities are the most prevalent anomaly in children of diabetes moms. Despite improvements in the medical care provided during pregnancy to diabetic mothers, a cardiac complication in their infants is still more frequent than in infants of the general population. Objectives: to quantify the prevalence of congenital cardiac problems in offspring of diabetes moms. Materials & Methods: this-Cross-sectional-study conducted in the Departments of Paediatrics and Neonatology, Ayub Medical College and Hospital, Abbottabad . from Jan 7 2021, to Jun 6 2021. A total of 111 full-term neonates born to diabetic mothers were included. Premature babies and other congenital anomalies were excluded. After taking consent and detailed history, all the neonates included in the study were sent for (Echocardiography) at the cardiac division of Abbottabad's Ayub Teaching Hospital. In the same department, echocardiography was conducted by the same cardiologist. Neonatal congenital heart disease was treated in hospitals. Results: Mean age was 3.35 ± 1.29 days (Table I). The mean maternal age was 38.64 ± 1.37 weeks. Out of the 111 patients, 79 (71.17%) were male, and Females made up 32 (28.19%), with a male-to-female ratio of 2.5:1. The average newborn weighed 3.93 1.62 kg. In this research, I discovered that 43 (38.74%) children with a mother who has diabetes had congenital cardiac disease. Conclusion: This study has shown the prevalence of congenital cardiac abnormalities, with patent ductus arteriosus being the most prevalent abnormality among children born to diabetic moms. Keywords: congenital heart defects, diabetic mothers, patent ductus arteriosus. Births in the US, whereas just 2% of pregnancies in Faisalabad have diabetes.Teratogenic

Atrial septal defect patients have an elevated risk for infective endocarditis

Background. It has been unclear whether simple atrial septal defect (ASD) is an independent risk factor for infective endocarditis (IE). This study aimed to untangle the risk of endocarditis in a large nationwide cohort. Methods. We acquired data from the Finnish hospital discharge register on all individuals with ASD diagnosis from 1969 to 2019. Patients with complex congenital cardiac abnormalities were ruled out. Five individualized controls from the general population were matched to the ASD patient’s birth year, sex, and residence at the index date. All the patients with ICD-8, −9, or −10 diagnosis codes for IE were gathered from the hospital discharge registry. Results. Altogether, 8322 patients with ASD and 39,237 individualized controls were enrolled in the study. Median follow-up was 21.6 years (IQR 11.8–36.9) from the first hospital contact. In total, 24 (16 male) cases of infective endocarditis among ASD patients and 10 (8 male) cases among controls were diagnosed during the follow-up. The incidence of endocarditis was 0.11 per 1000 person-years in the patients with ASD and 0.011 per 1000 person-years in the controls. The adjusted risk ratio for endocarditis was 13.51 (95% CI: 6.20–29.46) in patients with ASD compared to the control cohort. Patients with ASD and endocarditis had higher long-term mortality than individualized control patients (MRR 2.25, 95% CI: 1.23–4.11). Conclusions. The incidence of IE in patients with ASD was higher than in the general population. Mortality associated with IE was higher in patients with ASD compared to controls.

Patent Foramen Ovale Closure in a Nonagenarian With Platypnoea-Orthodeoxia Syndrome

Patent foramen ovale (PFO) is a common congenital cardiac abnormality that affects one-quarter of the general population. Hypoxaemia, because of large right-to-left shunt, is a rare complication of PFO and occurs under exceptional physiological conditions. Case: This 90-year-old lady presented with progressive dyspnoea over several months. At presentation to hospital, she was hypoxaemic with pO2 of 53 mmHg and oxygen saturation of 89% despite 15L of oxygen via a mask. While lying supine for a computed tomography pulmonary angiogram (CTPA), it was noted that her oxygen saturation normalised. The CTPA excluded pulmonary embolus and intrapulmonary vascular anomaly. Intermittent intracardiac shunt was suspected and confirmed on formal shunt testing with a shunt fraction calculated at 32%. Transthoracic echocardiogram and cardiac CT failed to demonstrate an intracardiac shunt. Transoesophageal echocardiogram confirmed a PFO with dynamic right-to-left shunting on colour Doppler and with agitated saline. She underwent percutaneous closure with a 25-mm Amplatzer PFO Occluder, with a good procedural result and resolution of her symptoms. At the 2-month follow-up she remained well with no breathlessness and no device-related complications. This case illustrates an unusual cause of platypnoea-orthodeoxia syndrome due to PFO in a nonagenarian. It was hypothesised that a prominent Eustachian valve, and anatomical factors including enlarged tortuous aorta and pectus excavatum, had gradually progressed over time, distorting the cardiac anatomy, and contributing to significant shunting. Percutaneous PFO closure resulted in immediate symptomatic benefit.

Proximal Descending Thoracic Aorta Removal of a Coarctation Stent With Aortic Root Replacement

Coarctation of the aorta is a common congenital cardiac abnormality, largely diagnosed early in life. Many patients undergo surgical intervention, and up to half of them will require reintervention at some point. This study presents a 27-year-old man with a history of a bicuspid aortic valve and aortic coarctation previously treated with endovascular stenting at 16 years of age. He subsequently developed an aortic root aneurysm with mild residual coarctation with a post-stenotic dilatation. The purpose of this poster is to outline a novel technique for operative repair of an adult coarctation with explantation of a thoracic stent graft, with an open aortic repair of an aortic coarctation with aortic root replacement, using 27/29mm On-X mechanical valved conduit.

P177 COR TRIATRIATUM DEXTER: THE ROLE OF TRANSTHORACIC ECHOCARDIOGRAPHY

Abstract Introduction Cor triatriatum dexter (CTD) is an extremely rare congenital cardiac abnormality and its prompt recognition by transthoracic echocardiography (TTE) is essential for a correct diagnosis. Case presentation An 82–years–old woman was admitted to our cardiologic ward for worsening dyspnoea. The physical examination revealed a bilateral lower extremity oedema with elevated jugular venous pressure and hepatomegaly. The ECG showed atrial fibrillation with a heart rate of 70 bpm already treated with beta–blockers and direct–acting oral anticoagulant. TTE revealed a left ventricle with normal dimensions and function, a dilated right ventricle with a mild systolic dysfunction and increased wall thickness, a marked dilation of the right atrium and a tricuspid severe regurgitation. A deeper analysis of the right atrium revealed the presence of membrane partitioning the chamber into two compartments (Figure 1). The separation was incomplete as demonstrated by the flow across the membrane with Color–Doppler technique (Figure 2). The patient was treated using high doses of diuretics with a subsequent clinical improvement. A percutaneous intervention on the tricuspid valve was planned by the Heart Time. Discussion CTD derives from the persistence of the right valve of the sinus venosus resulting in a complete or incomplete fibromuscular band which separates the right atrium into two cavities. The spectrum of clinical manifestations is broad, based upon the degree of separation. In older patients CTD is often asymptomatic and incidentally found during diagnostic imaging examinations. TTE plays a key role in the identification of CTD, as a first–line diagnostic imaging tool. It, also, allows a differential diagnosis with a prominent eustachian valve, chiari network, and thebesian valve. However, in difficult cases a multiparametric approach is required including transoesophageal echocardiogram or cardiac magnetic resonance. Echocardiography has a pivotal role in the prompt recognition of other cardiac abnormalities associated with CTD such as atrial septal defect or patent foramen ovale, right ventricular hypoplasia and Ebstein’s anomaly. In our case, none of these were documented. Atrial fibrillation should be investigated due to severe atrial chamber dilation. A multiplane evaluation of the right atrium and the Color–Doppler technique are helpful to visualize the configuration of the membrane and evaluate the absence of flow disturbances.

Persistent Tachypnoea in Early Infancy: A Clinical Perspective.

Tachypnoea in the newborn is common. It may arise from the many causes of the respiratory distress syndrome such as hyaline membrane disease, transient tachypnoea of the newborn, meconium aspiration etc. Congenital heart disease rarely presents with early tachypnoea on day one or two, in contrast to the early presentation of cyanosis, unless there is "pump" (ventricular) failure such as may occur in a cardiomyopathy/myocarditis, or as a result of severe obstruction to either ventricle. Space-occupying lesions within the chest, for example from a diaphragmatic hernia or a congenital cystic adenomatoid malformation, may present with early tachypnoea, as can a metabolic cause resulting in acidosis. The aim of this paper, however, is to focus on infants where the tachypnoea persists or develops beyond the newborn period, at times with minimal signs but occasionally with serious underlying pathology. They include causes that may have originated in the newborn but then persist; for example, arising from pulmonary hypoplasia or polycythemia. Many congenital cardiac abnormalities, particularly those causing left sided obstructive lesions, or those due to an increasing left to right shunt from large communications between the systemic and pulmonary circulations, need be considered. Respiratory causes, for example arising from aspiration, primary ciliary dyskinesia, cystic fibrosis, or interstitial lung disease, may lead to ongoing tachypnoea. Infective causes such as bronchiolitis or infantile wheeze generally are readily recognisable. Finally, there are a few infants who present with persistent tachypnoea over the first few weeks/months of their life who remain well and have normal investigations with the tachypnoea gradually resolving. How should one approach infants with persistent tachypnoea?

Importance of the Multimodality Evaluation of a Double-chambered Right Ventricle for Surgical Indications on Admission for Acute Myocardial Infarction.

We treated a female patient known to have a double-chambered right ventricle (DCRV) who presented with symptoms of an acute myocardial infarction (AMI). Emergent coronary artery catheterization revealed acute right coronary artery (RCA) occlusion and proximal left anterior descending (LAD) stenosis. We performed percutaneous coronary intervention (PCI) for the RCA occlusion. Right heart catheterization revealed a pressure gradient across the mid-RV of 58 mmHg. Computed tomography and magnetic resonance imaging revealed no other congenital cardiac abnormalities. She underwent surgical repair of the RV stenosis and coronary artery bypass surgery for LAD stenosis.