Normal Cardiac Anatomy and Clinical Evaluation.

The heart is positioned in the middle, superior, and posterior regions of the mediastinum. Although it is a midline structure, the apex of the heart is typically situated to the left of the midline (Fig. 4.1).

Clinical Presentation and Therapy of Atrioventricular Septal Defect.

Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial cushions. AVSDs occur in 0.19 of 1000 live births and constitute 4-5 % of congenital heart defects. AVSDs can be categorized as incomplete (or partial) or complete, and intermediate or transitional.

Clinical Presentation and Therapy of Anomalies of the Situs.

Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs. "Situs" is derived from Latin and is the place where something exists or originates. In human anatomy, situs can be solitus (derived from Latin, meaning "normal"), inversus, or ambiguus. Heterotaxy syndrome represents an intermediate arrangement of internal organs between situs solitus and situs inversus, also known as "situs ambiguous." Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. The determination of situs as normal, inversus, or ambiguus is primarily based on the location of unpaired organs such as the spleen, liver, stomach, and intestines. Diagnosis is made by clinical examination, echocardiography, a chest X-ray (position of the heart, stomach, and liver), and ultrasound of the abdominal organs. Situs is considered solitus if the left atrium, spleen, stomach, and the trilobed lung are on the left side and the liver and bilobed lung are on the right side. Situs ambiguus is present if the location of unpaired structures is random or indeterminate even after detailed and appropriate imaging. Situs inversus results when the arrangement of the thoracic and abdominal organs is mirrored. Individuals with situs inversus or situs solitus do not experience fatal dysfunction of their organ systems, as general anatomy and morphology of the abdominothoracic organ-vessel systems are conserved.

Clinical Presentation and Therapy of Tricuspid Atresia and Univentricular Heart.

Although the terms "single ventricle" and "univentricular heart" are frequently used to describe a variety of complex congenital heart defects, in fact, nearly all hearts have two ventricles, although one of the two may be too small to be functional. A better term for these hearts would therefore be "functional single ventricle."

Clinical Presentation and Therapy of Truncus Arteriosus.

Truncus arteriosus (TA, also known as common arterial trunk) consists of only one great artery ("the truncus") with a semilunar valve (truncus valve) arising from the heart and an additional ventricular septal defect and (Fig. 50.1). This great artery is positioned above the ventricular septal defect and gives rise to the coronary arteries, the pulmonary arteries, and the aortic arch. Historically, TA has been classified by Collet and Edwards in three types, where in type I there was a common pulmonary artery truncus, in type II the left and right PA arise separately but close to each other, in type III both PA arise independently; in addition, there was a type IV that was later characterized as pulmonary atresia with VSD and major aortopulmonary collateral arteries arising from the descending aorta.

Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.

Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly underdeveloped left ventricle and severe hypoplasia of the ascending aorta, often leading to retrograde perfusion. These abnormalities include aortic valve atresia or severe stenosis, accompanied by a severely hypoplastic aortic valve annulus (Fig. 59.1). Mitral valve atresia, hypoplasia, and/or stenosis with a hypoplastic valve annulus with or without a ventricular septal defect can also contribute to the development of HLHS. Endocardial fibroelastosis and sinusoids may be present as well. The interatrial septum can either be closed or the foramen ovale severely stenotic. Other malformations, such as anomalous pulmonary venous drainage or variations of the systemic veins, may coexist. It is also common to observe a coarctation of the aorta in these cases.

Clinical Presentation and Therapy of Cardiomyopathies.

Cardiomyopathies are a group of diseases that primarily affect the heart muscle, leading to mechanical or electrical dysfunction of the heart. They can be categorized into primary and secondary forms. Primary cardiomyopathies can be further classified as congenital, acquired, or mixed. In terms of the heart muscle itself, there are five distinct types of cardiomyopathies: hypertrophic cardiomyopathy, dilated or congestive cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic (right ventricular) dysplasia, and noncompaction cardiomyopathy. While cardiomyopathies primarily affect the heart, they can also have systemic manifestations, impacting other organs and potentially causing progressive debilitation, heart failure, or even death.

Clinical Presentation and Therapy of Atrial Septal Defect.

Atrial septal defects (ASDs) occur in 1 of 1500 live births and constitute 6-10% of congenital heart defects. There is a female-to-male predominance of 2 to 1. According to their embryological origins, we can differentiate five different types of ASDs (see Fig. 23.1).

Clinical Presentation and Therapy of Ventricular Septal Defect.

Ventricular septal defects (VSDs) occur in 1.5-3.5 of 1000 live births and constitutes 20 % of congenital cardiac defects. There is no gender predominance.

Clinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome. In addition, the left and right main pulmonary arteries may be stenotic or hypoplastic. In these cases, there may be major aortopulmonary collateral arteries (MAPCAs) which are vessels arising from the aorta or the subclavian arteries that supply segments of the pulmonary arterial tree. Additional variations include an ASD (Pentalogy of Fallot), a right aortic arch, and coronary abnormalities.

Clinical Presentation and Therapy of Total Anomalous Pulmonary Venous Return.

Total anomalous pulmonary venous return (TAPVR) is rare (accounting for about 1% of all CHD) and can occur as a single lesion or in combination with other types of CHD (such as heterotaxy or HLHS). TAPVR is defined as an abnormal connection where all pulmonary veins do not drain into the left atrium but into the right atrium either directly or through a vein that is connected to the right atrium. TAPVR can be divided into four anatomic groups (Fig. 32.1): (1) supracardiac (about 55%), (2) cardiac (about 30%), (3) infracardiac (about 13%), and (4) mixed (very rare). In addition, it can be divided into two physiological types: nonobstructed and obstructed. Embryologically, all pulmonary veins usually connect to a pulmonary venous confluence that connects to the left atrium. If this connection does not occur, the pulmonary venous confluence connects to a systemic vein instead.

Clinical Presentation and Therapy of d-Transposition of the Great Arteries.

d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.

Clinical Presentation and Therapy of Semilunar Valve and Aortic Arch Anomalies.

The following semilunar valve defects and aortic arch anomalies are called simple defects because there is a single problem that can be well described. Based on the degree of malformation and hemodynamic consequence, these simple lesions can however be life threatening immediately after birth. They all affect either the left or right outflow tract or the aortic arch.

Clinical Presentation and Therapy of Coronary Artery Anomalies.

There are two major coronary arteries that arise normally directly above the aortic valve in the sinus. The left main coronary artery (LCA or LMCA) arises from the left coronary sinus and divides shortly after its origin into the left anterior descending and the circumflex coronary arteries (LCX). Branches of the left anterior descending (LAD) coronary artery include the left conus, septal, and diagonal arteries. Branches of the circumflex coronary artery may include the sinus node artery, Kugel's artery, marginal arteries, and the left atrial circumflex artery (Fig. 47.1). The LAD follows the interventricular septum to the apex, the LCX turns posterior, follows the atrioventricular groove between the left atrium and ventricle to the coronary sinus. Branches of the right coronary artery (RCX) include the conal branch, the sinus node artery, an atrial branch, the right ventricular muscle branches (including the acute marginal branch), the posterior descending coronary artery, the atrioventricular node artery, and septal branches (Fig. 47.2). The RCX follows the atrioventricular groove between the right atrium and ventricle. The "dominant coronary artery" is the one giving rise to the posterior descending coronary artery. It originates from the right coronary artery in 80% of people.

Clinical Presentation and Therapy of Ebstein Anomaly.

Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It is characterized by an abnormality of the tricuspid valve, where the valve is positioned lower than normal in the right ventricle. Although primarily a tricuspid valve defect, the right ventricle itself is often structurally abnormal and weakened (myopathic).

Clinical Presentation and Therapy of Arrhythmias.

The electrocardiogram (ECG) is one of the cornerstones of diagnostic investigations in pediatric or adult cardiology. The standard ECG includes 12 leads; there are 6 leads that are derived from electrodes from the arms and legs (Einthoven and Goldberger leads) and 6 precordial leads (Wilson leads).

Antipsychotic prescribing: national findings of children and adolescents attending mental health services in Ireland.

Antipsychotic prescribing trends vary internationally, albeit off-label use remains high (i.e., target symptoms). We aim to describe antipsychotic use, target conditions, target symptoms and dosing regimens in children and adolescents in Ireland. We used a sampled cohort from a national audit of children and adolescents attending mental health services with predefined inclusion and exclusion criteria from Jul-2021 to Dec-2021 who were prescribed at least one psychotropic medication and up to and including 17-years of age (n = 3528). Each service provided anonymised data. We described the frequency of antipsychotic medication, medication type, target condition, target symptom and medication doses. We used multivariable logistic regression, adjusted with available co-variates to assess the association of being prescribed an antipsychotic medication. Twelve percentage (n = 437) were prescribed an antipsychotic and 16-17-years (n = 211, 48.3%) was the most common age category. The commonest reason for prescribing an antipsychotic was target symptoms (i.e., off-label use) (n = 329; 75.%) and of these symptoms, agitation (n = 77/329; 25%) and irritability (56/239; 25%) were the most common. Quetiapine (n = 127; 29%) was the most common antipsychotic, followed by risperidone (n = 125; 28.6%), aripiprazole (n = 107; 24.5%), and olanzapine (n = 66; 15.1%). In adjusted analysis, having a psychotic disorder ((adjusted-odds-ratio) aOR: 39.63, CI 95%, 13.40-117.22), bipolar disorder (aOR: 16.96, CI 95%, 3.60-80.00), autism spectrum disorder (aOR: 3.24, CI 95%, 2.45-4.28) or aggression symptoms (aOR: 16.75, CI 95%, 7.22-38.89) was associated with prescribing an antipsychotic medication. This is the first study in children and adolescents that describes the target conditions and target symptoms for antipsychotic use in Ireland. Our results show a high proportion of antipsychotic prescribing based on target symptoms rather than target condition or diagnosis.

Household energy poverty and trajectories of emotional and behavioural difficulties in children and adolescents: findings from two prospective cohort studies.

PURPOSE: The aim of this study is to examine the association between household energy poverty (EP) and trajectories of emotional and behavioural difficulties during childhood. METHODS: The Growing up in Ireland study is two nationally representative prospective cohorts of children. The Infant Cohort (n = 11,134) were recruited at age 9 months (9 m) and followed up at 3, 5, 7 and 9 years (y). The Child Cohort (n = 8,538) were recruited at age 9 y and followed up at 13 y and 17/18 y. EP was a composite of two relative measures of EP. Emotional and behavioural difficulties were repeatedly measured using the strengths and difficulties questionnaire (SDQ). Linear spline multilevel models were used, adjusted for confounders to examine the association between (1) EP (9 m or 3 y) and trajectories of emotional and behavioural difficulties from 3 to 9 y in the Infant Cohort and (2) EP at 9 y and the same trajectories from 9 to 18 y in the Child Cohort. RESULTS: In adjusted analyses, EP at 9 m or 3 y of age was associated with higher total difficulties score at 3 y (0.66, 95% CI 0.41, 0.91) and 5 y (0.77, 95% CI 0.48, 1.05) but not at 7 y or 9 y. EP at 9 y was associated with higher total difficulties score at 9 y (1.73, 95% CI 1.28, 2.18), with this difference reducing over time leading to 0.68 (95% CI 0.19, 1.17) at 17/18 y. CONCLUSIONS: Our study demonstrates a potential association between early life EP and emotional and behavioural difficulties that may be transient and attenuate over time during childhood. Further studies are required to replicate these findings and to better understand if these associations are causal.

National Clinical Programme for Eating Disorders: a pragmatic review of a new national eating disorder service in Ireland.

OBJECTIVE: The Health Service Executive National Clinical Programme for Eating Disorders (NCPED) launched a Model of Care for Eating Disorder Services in Ireland in 2018. Currently, one adult and two child and adolescent eating disorder services are operational out of a total of sixteen recommended. The three objectives of this paper are to describe the early (1) referral pattern, (2) level of service activity and (3) the level of service user satisfaction. METHOD: Monthly submitted service activity data from each service to the NCPED between March 2018 and October 2020 were retrospectively analysed. One hundred and fifty-nine carers and service users completed an experience of service questionnaire (ESQ). A descriptive analysis of referral pattern, level of service activity and ESQ was performed. A thematic analysis was performed on three qualitative questions on the ESQ. RESULTS: There was substantial referral numbers to eating disorder services by 18 months (n = 258). The main referral source was community mental health teams. The majority (n = 222, 86%) of referrals were offered an assessment. The most common age profile was 10-17 years of age (n = 120, 54.1%), and anorexia nervosa was the most common disorder (n = 96, 43.2%). ESQ results demonstrate that most service users were satisfied with their service, and the main themes were carer involvement, staff expertise, therapeutic alliance and service access. CONCLUSIONS: This preliminary service activity and service user satisfaction data highlight several issues, including trends when setting up a regional eating disorder service, potential pitfalls of pragmatic data collection and the need for adequate information-technology infrastructure.

Acute Kidney Injury and Renal Replacement Therapy After Fontan Operation.

Fontan circulation leads to chronic elevation of central venous pressure. We sought to identify the incidence, risk factors, and survival among patients who developed acute kidney injury (AKI) after the Fontan operation. We retrospectively reviewed 1,166 patients who had Fontan operation/revision at Mayo Clinic Rochester from 1973 to 2017 and identified patients who had AKI (defined by AKI Network criteria) within 7 days of surgery. A total of 132 patients (11%) developed AKI after the Fontan operation with no significant era effect. Of those who developed AKI, severe (grade 3) kidney injury was present in 101 patients (76.5%). Multivariable risk factors for AKI were asplenia (odds ratio [OR] 4.2, p <0.0001), elevated preoperative pulmonary artery pressure (per 1 mm Hg increase, OR 1.04, p = 0.0002), intraoperative arrhythmias (OR 1.9, p = 0.02), and elevated post-bypass Fontan pressure (per 1 mm Hg increase, OR 1.12, p = 0.0007). Renal replacement therapy (RRT) was used in 72 patients (54%), predominantly through peritoneal dialysis (n = 56, 78%). Multivariable risk factors for RRT were age ≤3 years (OR 9.7, p = 0.0004), female gender (OR 2.6, p = 0.02), and aortic cross-clamp time >60 minutes (OR 3.1, p = 0.01). Patients with AKI had more postoperative complications, including bleeding, stroke, pericardial tamponade, low cardiac output state and cardiac arrest, than those without AKI. This resulted in longer intensive care unit stay (39 vs 17 days, p = 0.0001). In-hospital mortality was exceedingly higher among patients with AKI versus no AKI (58%, 76 of 132 vs 10%, 99 of 1,034, p <0.0001); however, there was no significant difference based on the need for RRT. Recovery from AKI was observed in 56 patients (42%). Over 20-year follow-up, patients with AKI had a distinctly higher all-cause-mortality (82%) than those without AKI (35%). It is prudent to identity patients at a higher risk of developing postoperative AKI after Fontan operation to ensure renal protective strategies in the perioperative period. Postoperative AKI leads to substantial short and long-term morbidity and mortality, but the need for RRT does not affect the outcomes.