congenital heart disease

Cardiomyopathy is a heart muscle disease with structural and functional myocardial abnormalities in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease. However, it has become clear that diverse etiologies and clinical manifestations (e.g. arrhythmogenic right-ventricular cardiomyopathy/dysplasia (ARVC/D), ARVD/C, left-ventricular non-compaction cardiomyopathy (LVNC)) are responsible for the clinical picture of dilated cardiomyopathy (DCM). The American Heart Association (AHA) classification grouped cardiomyopathies into genetic, mixed and acquired forms, while the European Society of Cardiology (ESC) classification proposed the subgrouping of each major type of cardiomyopathy into familial or genetic, and nonfamilial or nongenetic, forms [1-4]. Cardiomyopathies are clinically heterogeneous diseases, and there are differences in sex, age of onset, rate of progression, risk of development of overt heart failure and likelihood of sudden death within each cardiomyopathy subtype [5]. Because of the complex etiology and clinical presentation, the diagnostic spectrum in cardiomyopathies spans the entire range of non-invasive and invasive cardiological examination techniques including genetic analysis. The exact verification of certain cardiomyopathies necessitates additional investigations. So, histological, immunohistological and molecular biological/virological investigations of endomyocardial biopsies are the gold standard to confirm the diagnosis of an inflammatory cardiomyopathy (DCMi) [6-10]. This review focuses on myocarditis and inflammatory cardiomyopathies underlying an immune-mediated process or persistent viral infection.

Background: Early diagnosis and improved facilities are necessary for determining the optimal timing of surgery and other interventions in children with congenital heart diseases in Nigeria. This is because late presentation, late diagnosis and delayed surgery can lead to mortality and affect the quality of life among these children. Objectives: This review article is aimed at enumerating the timing of cardiac surgeries and other interventions and to seek if there is any factor associated with the timing of cardiac surgery. Methods: A search on PubMed database, World Health Organization libraries, Google scholar, TRIP database, and reference lists of selected articles on timing of cardiac surgery in children was done. The Cochrane Database of Systematic Reviews was also searched. We noted few data from African setting. Key words such as timing of cardiac surgery; children, congenital heart defect were used. Conclusion: Appropriate timing for cardiac surgery in children with congenital heart disease is very important as late surgical intervention could result in several morbidities and mortality.

Introduction: Klippel-Feil syndrome (KFS), is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities which contribute in the deterioration and complication of the condition of the child. Aim of presentation: Here, we report five children from Kosovo with KFS associated with different heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings. Methods: Retrospectively we analysed medical reports of five children, diagnosed at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome. Conclusion: Basing on our cases, all diagnosed in a small country as a Kosovo, we can conclude that KFS is not such a rare condition. In addition, such syndrome is not so rarely associated with different congenital heart disease. In four cases cardiac surgery was indicated and successfully was done abroad Kosovo in the lack of such services in Kosovo.

Introduction: Congenital heart diseases (CHD) are leading causes of childhood morbidity and mortality especially in developing countries. Community-based studies are important in ascertaining the burden of the disease. Objectives: The study was set out to determine the prevalence and types of CHD among primary school children in Port Harcourt Local Government Area (PHALGA) of Rivers State, Niger Delta, Nigeria. Methods: A total of 1,712 primary school pupils were selected by multistage sampling from twelve schools in PHALGA. A questionnaire was used to obtain information from pupil’s parents on their child’s biodata and symptoms suggestive of heart disease. General physical and cardiovascular system examinations were carried out on each selected pupil, following which those with symptoms and/or signs suggestive of heart disease had echocardiographic confirmation of their cardiac status. Results: The 1,712 subjects were aged 5-14 (mean 8.48 ± 2.30) years. 874 (51.1%) were females while males were 838 (48.9%). The study revealed that 31 pupils had congenital heart diseases confirmed by echocardiography, giving a prevalence of 18.1 per 1,000 pupils. The commonest cardiac defects seen were acyanotic CHD in 30 (96.8%) pupils while cyanotic CHD was seen in only one (3.2%) pupil. Among the acyanotic CHD, atrial septal defects (83.9%) followed by ventricular septal defects (9.7%) were the commonest. CHD occurred with higher frequency among females (64.5%) and among the younger age group of 5-9 years (61.3%) though these were not statistically significant (p > 0.005). Conclusion: Cardiac examination as part of compulsory health screening at primary school entry will help detect children with CHD, reduce delay in diagnosis for intervention, avert debilitating morbidity and assure a better quality of life. 

Background: Tetralogy of Fallot (TOF) is a very common cyanotic congenital heart disease presenting early at birth with various degrees of cyanosis. If left uncorrected surgically, can lead to death. Objectives: This study is aimed at determining pattern and surgical outcome of children with teratology of Fallot in a budding health facility in India over a year period. Result: A total of 51 children were diagnosed of TOF over the period, of which 66.7% were males with mean age of 48.14 ± 45.36 months. The surgical outcome showed only 3.9% mortality. The death was among children >1 to 5 years. The mean number of days in intensive care unit (ICU) was 5.8 ± 11.2 days. 82.4% of the patients were off-pump post-operatively, compared to 17.6% with re-pump. Among those who had re-pump, 77.8% were males and among those without re-pump, 64.3% were likewise males (χ2 = 0.6, p = 0.41). About 92.2% (47/51) of patients had pulmonary regurgitation post-op, ranging from mild to moderate regurgitation. 51.1% of the regurgitations were mild while 25.5% and 23.4% were moderate and severe regurgitations respectively. Post-operative VSD was detected in 51% (26/51) of the patients. The post-op right ventricular pressure (RVOT) was significantly lower than that of pre-op pressure, 10.8 ± 1.5 mmHg vs. 31.7 ± 4.5 mmHg (pair t test = 8.7, p < 0.001). Conclusion: Timely surgical repair is crucial in alleviating several morbidity and mortality associated with teratology of fallot. Pulmonary regurgitation is a very common sequel after surgery and can result in death.

Background: Children with congenital heart diseases (CHD) often require palliative or definitive surgical heart interventions to restore cardiopulmonary function. Lack of early cardiac intervention contributes to large numbers of potentially preventable deaths and sufferings among children with such conditions. Objectives: The aim of this study was to highlight our experience and the importance of international and regional collaboration for open heart surgery in children with CHD and capacity building of local cardiac teams in Bayelsa and Enugu States. Methodology: In November 2016, a memorandum of understanding (MOU) was signed by the managements of FMC, Yenagoa, Bayelsa State, UNTH, Enugu and an Italian-based NGO- Pobic Open Heart International for collaboration in the area of free open heart surgery for children with CHDs and training of local cardiac teams from both institutions either in Nigeria or in Italy. Patients for the program were recruited from Bayelsa and Enugu States with referrals from all over the country with combined screening and selection done in UNTH. Selected patients were operated on and funded free of charge by the Italian NGO. Hands on training of the local cardiac teams and cardiac intervention was done twice yearly in Nigeria. Result: From inception of the program in November, 2016 to May, 2019 a total of 47 children (21 Males, 26 Females; age range 6 months to 14 years) with various types of congenital heart defects had free open heart surgery from the program with 41 surgeries done in UNTH & 6 in Italy (complex pathologies). Also, home cardiac teams from UNTH and FMC, Yenagoa gained from on-site capacity training & retraining from the Italian cardiac team both in Nigeria and in Italy. The Success rate was 95.7% (44) and Case Fatality rate was 4.3% (2). Conclusion: There is a great efficacy in early cardiac intervention. This is with respect to a high success rate and minimal Case Fatality seen in this study. This was achieved through Regional and international collaboration.

Background: Macitentan significantly improves pulmonary hemodynamics and survival in patients with primary pulmonary hypertension (PPH). Its beneficial effect, however, may be blunted due to the adverse impacts such as anemia and peripheral edema. Pulmonary arterial hypertension (PAH) is a significant consequence of congenital heart disease (CHD). Its presence and severity are associated with increased morbidity and mortality. We tried to evaluate that the effectiveness of the macitentan in patients with late-onset pulmonary hypertension after atrial septal defect operation in our center. Methods: The effect of a single dose of macitentan (10 mg) on pulmonary hemodynamics, functional capacity was examined in four patients with late-onset pulmonary hypertension after atrial septal defect operation. Results: The macitentan significantly improved mean pulmonary artery pressure (MPAP), cardiac output (CO), tricuspid annular plane systolic excursion (TAPSE), right ventricle systolic wave(RVS’), 6-minute walking test and NT-proBNP levels compared with before treatment. Conclusions: Macitentan can be used in patients with late-onset pulmonary hypertension after shunt operation especially atrial septal defect.

Background: Herbal essential oil contains pharmacological benefits for intervention treatment of various diseases. Studies have demonstrated its antimicrobial, antioxidant, and anti-inflammatory effect involving in vitro cell culture and preclinical animal models. It has been also traditionally used to reduce anxiety and hypertension in human. However, scientific studies elucidating its mechanism of action and pharmacological targets, as well as its effectiveness and safety as phytotherapeutic compounds are still progressing. Recent studies showed its promising effect in depression-cardiovascular disease intervention. However, comprehensive evaluations to enlighten latest advancement and potential of herbal essential oil are still lacking. Objective: In this systematic review, the depression-cardiovascular effects of herbal essential oil on lipid profile, biochemical and physiological parameters (e.g haemodynamic) are presented. The route of delivery and mechanism of action as well as main bioactive compounds present in respective essential oil are discussed. Methods: Article searches are made using NCBI PubMed, PubMed Health, SCOPUS, Wiley Online, tandfonline, ScienceDirect and Espacenet for relevant studies and intellectual properties related to essential oil, depression and cardiovascular disease. Results: In experimentation involving in vitro, in vivo and clinical trials, herbal essential oil showed its effectiveness in reducing coronary artery disease (narrowing of the arteries), heart attack, abnormal heart rhythms, or arrhythmias, heart failure, heart valve disease, congenital heart disease, heart muscle disease (cardiomyopathy), pericardial disease, aorta disease, Marfan syndrome and vascular (blood vessel) disease. Conclusion: This review gives a valuable insight on the potential of essential oil in the intervention of depression associated with cardiovascular diseases. Studies showed that herbal essential oil could act as vasodepressor, calcium channel blocker, antihyperlipidemia, anticoagulant, antiatherogenesis and antithrombotic. It can be proposed as an interventional therapy for depression-cardiovascular disease to reduce doses and long-term side-effect of current pharmacological approach.

The normal levels of thyroid hormones (THs; thyroxine, T4 & 3,5,3′-triiodo-L-thyronine, T3) are necessary for the normal development [1-48], particularly the fetal and neonatal cardiac growth and development [49]. The actions of THs are facilitated genomically by thyroid receptors (TRs, α and β) and non-genomically at the plasma membrane, in the cytoplasm and in cellular organelles [4,49-55], by stimulation of Na+, K+, Ca2+ and glucose transport, activation of protein kinase C (PKC), protein kinase A (PKA) and mitogen activated and protein kinase (ERK/MAPK) [4]. In addition, the transport of T4 and T3 in and out of cells is controlled by several classes of transmembrane TH-transporters (THTs) [56], including members of the organic anion transporter family (OATP), L-type amino acid transporters (LATs), Na+/Taurocholate cotransporting polypeptide (NTCP), and monocarboxylate transporters (MCTs) [4,49,57,58]. Adding additional complexity, the metabolism of T4 and T3 is regulated by 3 selenoenzyme iodothyronine deiodinases (Ds: D1, D2 and D3) [59-61]. On the other hand, the congenital hypothyroidism can cause the following [49,62-64], (1) congenital heart diseases; (2) diastolic hypertension; (3) reduced cardiac output, stroke volume and a narrow pulse pressure; (4) dilatation and overt heart failure; (5) elevation in the systemic vascular resistance [65-68]. Similarly, the chronic hyperthyroidism can cause the following [49,64]: (1) cardiac hypertrophy; (2) increase in the cardiomyocyte (CM) length rather than width; (3) noticeable diminution in systemic vascular resistance; (4) elevation in the cardiac contractility; (5) systolic hypertension; (6) increase in the cardiac output, venous volume return, blood volume and pulse pressure; and (7) reduction in the systemic vascular resistance [49,69]. T3-therapy can induce DNA synthesis and cardiomyocyte proliferation, and improve the cardiac contractility; though, this action is as still unidentified [49,70-74].

Atrial septal defect (ASD) is common among adult congenital heart diseases but rarely causes paradoxical cerebral embolism. By sharing the ASD diagnosed after the first ischemic stroke attack at the age of 49 and a case of paradoxical cerebral embolism developing accordingly, we aimed to draw attention to the necessity of detailed cardiac examination in patients with cryptogenic stroke.

Background: Down syndrome (DS), or Trisomy 21, is the most common genetic disorder in the world and congenital heart disease (CHD) contributes significantly to morbidity and mortality in this population. Early diagnosis and prompt cardiac intervention improve their quality of life. This study was done to determine the prevalence and pattern of congenital heart disease among children with Down syndrome seen at the Paediatric Cardiology Unit of Federal Medical Centre (FMC), Bayelsa State.Method: A prospective study of children with Down syndrome referred for cardiac evaluation and echocardiography at the Paediatric Cardiology Unit of FMC, Bayelsa State over four years from 1st January 2016 to 30th December 2019. Data on socio-demographic information, echocardiographic diagnosis, and outcome were retrieved from the study proforma and analyzed.Results: A total of 24 children with Down syndrome were seen over the study period. Their age ranged from 0 to 16years. The majority, 20 (83.3%) of the children with Down syndrome were aged 5 years and below. There were 13 males and 11 females with a male to female ratio of 1.2:1. A total of 23 (95.8%) of the children with Down syndrome had CHD. The most common CHD was AVSD (including complete, partial, isolated, or in association with other defects) in 66.6% followed by TOF in 8.3%. Multiple CHDs were seen in 43.5% of the children. Only one child (4.2%) had a structurally normal heart on echocardiography. All the children with Down syndrome had pericardial effusion of varying severity while 33% had pulmonary artery hypertension (PAH). The fatality rate among the children seen with Down syndrome over the study period was 34.8% and only one child (4.2%) had open-heart surgery with the total repair of cardiac defect during the study period. Conclusion: Morbidity and mortality are high among children with Down syndrome due to the high prevalence of CHD. Early referral, diagnosis, and prompt intervention are encouraged.

Background: The prevalence of cyanotic congenital heart diseases (CCHD) varies world wide. It accounts for a third of all congenital heart diseases. The common CCHD includes Tetralogy of Fallot(TOF), transposition of the great arteries (TGA), total anomalous pulmonary venous return (TAPVR), truncus arteriosus, and tricuspid atresia (TA). Less common variants include Ebstein’s anomaly, Hypoplastic left heart syndrome, pulmonary atresia, and single ventricle. Children of all ages can be are affected. The commonest presentation is cyanosis. Bradycardia and/or congenital heart block are rare presentations and mostly occur in the presence of an associated congenital atrioventricular block.Case report: We report a case of a 3-month-old female presenting with congenital heart block and bradycardia at 3 months of age and found to have complex cyanotic congenital heart disease on echocardiography.Conclusion: An infant presenting with bradycardia clinically should be screened for congenital heart defect as bradycardia may be an ominous sign of serious underlying cardiac defect.

Introduction: Atrial Septal Defect (ASD) is the most common congenital heart disease, accessible to percutaneous closure in 90% of cases. The closure procedure is performed usually under local anesthesia and TTE by femoral access. The association of OS-ASD with an azygos continuation of the inferior vena cava is very rare (< 0.1/1000 births) making femoral access impossible. Only a few cases are mentioned in the literature, here we describe the procedure as faithfully as possible. Important clinical finding: We present a case of a 32-years-old female candidate for percutaneous closure of OS-ASD with right cavity dilatation who present during her procedure an unusual guidewire path suspecting an azygos continuation of the inferior vena cava, confirmed by CT angiography, making impossible the closure via the femoral approach. Therapeutic intervention: After being confronted with the categorical patient refusal of the surgery, we performed successfully the procedure; one month later; under general sedation by internal jugular approach. We finished with manual compression before extubating the patient. Outcomes: The follow-up was favorable at the cost of a hematoma at the puncture site and brachial plexus compression, which regressed after 3 days. Conclusion: We opted for general anesthesia and intubation to guide the procedure by TEE. We placed it in the aorta, which gave us good stability to continue successfully the procedure. We underestimated the risk of complication at the puncture site, which could have been avoided by using a vascular suture device or more prolonged compression. Main takeaway lesson: Percutaneous closure is the reference treatment for OS-ASD. In case of is associated with an azygos continuation of the inferior vena cava, the right internal jugular vein remains a reasonable approach; it requires discussion and rigorous preparation by the whole team. The management of the puncture site in this situation remains delicate and requires great concentration. 

Introduction: Congenital heart disease is a leading cause of neonatal mortality linked to birth defects. Despite the widespread availability of prenatal screenings, detection rates remain low. Accurate early detection of these lesions is pivotal to reducing neonatal morbidity and mortality.Methods: In this case, we present a neonate who experienced sudden cardiac death due to a rare, undiagnosed congenital cardiac anomaly - the bilateral absence of coronary artery ostium. Discussion: This case highlights the importance of prenatal detection of congenital cardiac anomalies. While fetal echocardiography is frequently utilized, it only identifies CHD in 36-50% of cases. This is attributed to inadequate imaging procedures, varied operator skills, and regional discrepancies. Early detection of severe CHD is essential for specialized treatment, thereby mitigating neonatal health risks and improving survival rates.Conclusion: Prenatal detection of CHD, especially coronary anomalies, continues to pose significant challenges. There is a pressing need to establish and enforce standardized protocols for fetal echocardiography aimed at these anomalies. To enhance care and improve outcomes, a joint effort between academic institutions and community centers is encouraged.Learning Objectives: •    Congenital coronary artery anomalies are a significant cause of sudden cardiac death in children.•    The absence of a coronary artery ostium is known to be associated with other congenital heart diseases, particularly pulmonary atresia with an intact ventricular septum. However, isolated coronary disease has also been reported in this case.•    Prenatal echocardiography is a valuable tool for diagnosing congenital heart disease. However, certain limitations may be encountered when diagnosing coronary artery anomalies.

Known since antiquity, migraine is a complex primary disorder, an episodic painful Autonomic Nervous System (ANS) storm, generally following the stress/post-stress phase. Despite exhaustive study of neuropeptides, neurochemicals, molecules, neurogenetics, neuroimaging along with animal and human experiments over the last 50 years, the scientific basis of migraine remains unknown. Straddling eight decades from Cortical Spreading Depression (CSD) to Calcitonin-Gene Related Peptide (CGRP) and its antagonists, exponentially increasing data have failed to create a gestalt synthesis. This article lays cohesive and robust fundamental principles for the comprehension and management of migraine. The continuum between migraine and non-congestive Primary Open-Angle Glaucoma (POAG), Normal Tension Glaucoma (NTG), or Low-Tension Glaucoma (LTG) is advancing. The case of sustained remission of migraine attacks (> 75%) over 3 years - 5 years with ocular hypotensive topical Bimatoprost Ophthalmic Solution (BOS) 0.3% in an N-of-1 trial in 3 patients with refractory migraine is presented. A cause-effect-adaptive process underlies the ANS-stress/post-stress-linked biology of migraine. Vasopressin-serotonin-norepinephrine ‘homeostatic-adaptive system’ Lowers Intraocular Pressure (IOP), while enhancing anti-stress, antinociception, vasomotor, and behaviour control functions, thereby selectively decreasing algogenic neural traffic in the ophthalmic division of trigeminal nerve (V1), and, raising the threshold to develop migraine. Striking migraine headache-aborting feature of vomiting is also likely linked to a several hundred-fold increase in arginine-vasopressin secretion. Eye-cover tests and self-ocular digital displacement are essential to studying the visual aura. Real-time physical displacement of Scintillating Scotoma (SS) and floating ‘stars’ is reported. The basis of spontaneous onset and offset, self-limited duration of migraine attacks, as well as female preponderance, and age/menopause decline in prevalence, are elucidated. Intraocular implants with long-term ocular hypotensive effects, including bimatoprost, are the future of migraine management. Controlled trials are required to establish the migraine-preventive effect of topical bimatoprost, a revolutionary advance in neuroscience.