A 3-dimensional transoesophageal echocardiography (3D TEE) provides direct visualization of the entire PFO anatomy and surrounding structures. It allows more accurate diagnosis.

Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 0.3-3.7% in patients with congenital heart disease. The deformity consists of a complete lack of formation of the tricuspid valve with the absence of a direct connection between the right atrium and right ventricle.The following 3 considerations guide the treatment of infants with tricuspid atresia:- The amount of pulmonary blood flow must be regulated to decrease hypoxemia or symptoms of congestive heart failure.- Myocardial function, the integrity of the pulmonary vascular bed, and pulmonary vascular integrity must be preserved to optimize conditions for a later Fontan operation.- The risk of bacterial endocarditis and thromboembolism must be minimized.Infants with decreased pulmonary blood flow: encompasses most of the infants with tricuspid atresia.Marked cyanosis and hypoxemia characterize the clinical course. Acidaemia may occur if the hypoxemia is profound, and death can ensue.Promptly treat infants with severe hypoxemia with prostaglandin E infusions to maintain patency of the ductus arteriosus and improve pulmonary blood flow.Infants with increased pulmonary blood flow: These infants have an associated unrestrictive ventricular septal defect and transposed great vessels.They present with severe congestive heart failure and benefit from digitalis and diuretic therapy until an operative intervention can be undertaken to restrict the pulmonary blood flow.

The T wave represents ventricular repolarization. Other options:- P wave:Depolarization that spreads from the SA node throughout the atria. The wave lasts 0.08 to 0.1 seconds (80-100 ms).The isoelectric period after the P wave represents the time in which the impulse is travelling within the AV node.- P-R interval:Time from the onset of the P wave to the beginning of the QRS complex. The wave ranges from 0.12 to 0.20 seconds in duration.Represents the time between the onset of atrial depolarization and the onset of ventricular depolarization- QRS complex:It represents ventricular depolarization. The duration of the QRS complex is normally 0.06 to 0.1 seconds.- ST-segment:The isoelectric period following the QRS. It represents the period in which the entire ventricle is depolarized and roughly corresponds to the plateau phase of the ventricular action potential- U wave: It is a small positive wave which may follow the T wave. It represents the last remnants of ventricular repolarization.- Q-T intervalIt represents the time for both ventricular depolarization and repolarization to occur, and therefore roughly estimates the duration of an average ventricular action potential.The interval ranges from 0.2 to 0.4 seconds depending upon heart rate.At high heart rates, ventricular action potentials shorten in duration, which decreases the Q-T interval. Therefore the Q-T interval is expressed as a corrected Q-T (QTc) by taking the Q-T interval and dividing it by the square root of the R-R interval (interval between ventricular depolarizations). This allows an assessment of the Q-T interval that is independent of heart rate.The normal corrected Q-Tc interval is less than 0.44 seconds.

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

ASD is an acyanotic congenital heart disease, characterized by the failure of the interatrial septum to form completely, which results in the mixing of left and right-sided blood. There are various types of ASD, some of them are ostium primum septal defect and patent foramen ovale. Clinical findings associated with ASD are a systolic ejection murmur, fixed splitting of second heart sound, prolonged PR interval, both left and right axis deviation (primum and secundum ASD, respectively). The most common finding is an incomplete right bundle branch block.

The murmur and thrill indicate a right outflow tract murmur, coupled with the right ventricular heave suggests right ventricular hypertrophy. The VSD would not have been amenable to surgery due to the child’s size/weight and so instead would have been palliated with a PA band. As the child grows, this band progressively restricts pulmonary blood flow until the left to right shunt has reversed. Then it is time for the band to be removed and the VSD to be closed.Pulmonary atresia is a cyanotic condition, which may be palliated with an arterial duct stent. This answer is incorrect as the stent placement would not require a midline sternotomy and would give a continuous machinery type murmur. Pulmonary stenosis with PDA ligation is incorrect. The murmur, thrill, and heave all match a pulmonary stenosis but in the absence of an additional shunt lesion the child would not be cyanosed.

DiGeorge syndrome is one of the most common microdeletion syndromes, resulting from 22q11 deletion. 10% of the cases can be inherited in an autosomal dominant fashion, while 90% are sporadic. The syndrome is characterized by a deficiency of both T and B-cell lines along with hearing loss, 20-fold increased lifetime chances of developing schizophrenia, renal abnormalities, congenital heart defects, and a borderline or low IQ. Distinctive facial features include micrognathia, long face, short philtrum, cleft palate, and small teeth.

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection| the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans| Staphylococcus species| and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE

The best answer is Henoch-Schönlein Purpura (HSP). This patient has a characteristic rash and the labs are consistent with this diagnosis.

The most common congenital cyanotic heart disease and the most common cause of blue baby syndrome, Tetralogy of Fallot shows four cardiac malformations occurring together. These are ventricular septal defect (VSD), pulmonary stenosis (right ventricular outflow obstruction), overriding aorta (degree of which is variable), and right ventricular hypertrophy. The primary determinant of severity of disease is the degree of pulmonary stenosis. Tetralogy of Fallot is seen in 3-6 per 10,000 births and is responsible for 5-7% congenital heart defects, with slightly higher incidence in males. It has also been associated with chromosome 22 deletions and DiGeorge syndrome. It gives rise to right-to-left shunt leading to poor oxygenation of blood. Primary symptom is low oxygen saturation in the blood with or without cyanosis at birth of within first year of life. Affected children ay develop acute severe cyanosis or ‘tet spells’ (sudden, marked increase in cyanosis, with syncope, and may result in hypoxic brain injury and death). Other symptoms include heart murmur, failure to gain weight, poor development, clubbing, dyspnoea on exertion and polycythaemia. Chest X-ray reveals characteristic coeur-en-sabot (boot-shaped) appearance of the heart. Treatment consists of immediate care for cyanotic spells and Blalock–Taussig shunt (BT shunt) followed by corrective surgery.

Although WPW syndrome is a type of supraventricular re-entrant tachycardia, CCBs are contraindicated in its management. This is because CCBs depress AVN conduction| the current then passes through the accessory pathway (bundle of Kent) instead, causing ventricular tachycardia.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

Infective endocarditis (IE) is caused by a bacterial, or fungal infection which damages the heart’s endothelium and can thus lead to changes in heart function, valve incompetencies, possible cardiac failure, as well other associated skin and organ changes. Organisms common in IE include Staphylococcus aureus and Streptococcus viridians. The HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, and Kingella species) are common in neonates. The Duke criteria uses 2 major, or 1 major and 3 minor criteria, or 5 minor criteria to diagnose infective endocarditis. Major criteria include:- a positive blood culture and evidence of endocardial involvement. Minor criteria include: – evidence of predisposition (a heart condition of injection drug use)- a fever- vascular phenomena such as Janeway lesions- immunologic phenomena such as Osler’s nodes and Roth’s spots| and- microbiological or serological evidence of active infection.

The most probable diagnosis for the clinical scenario provided is coarctation of the aorta. It contributes to about 4% of all congenital heart disease and is more prominent in males than females.It is associated with trisomy 13 and 18, Turner syndrome, valproate toxicity as well as ventricular septal defects, persistent ductus arteriosus, mitral valve abnormalities and berry aneurysms of the circle of Willis. Other associated cardiac abnormalities include a bicuspid aortic valve (50%), mitral valve disease, aortic regurgitation (20%) and subaortic stenosis. Ninety-eight per cent of coarctations occur at the level of the pulmonary artery after the subclavian artery. It is for this reason that, on observation, the proximal blood pressure varies compared with the distal blood pressure. The blood pressure in the right arm is often higher than that in the left arm. Clinically, these children present with hypertension, prominent carotid pulses, radio-femoral delay, left ventricular hypertrophy and an ejection systolic murmur maximum over the posterior left interscapular area. An apical click over the aortic valve may be heard. Coarctation of the aorta may be simple (post-ductal), or complex (pre-ductal or with a septal defect), and may be associated with aortic stenosis, transposition of the great arteries or a bicuspid aortic valve. The ECG and chest radiograph may be normal. However, as the child enters the first decade, evidence of cardiomegaly, congestive heart failure, post-stenotic dilatation with a dilated subclavian artery and rib notching may be noticed. The ECG may show right ventricular hypertrophy, left ventricular hypertrophy in infancy and right axis deviation. Complications of coarctation of the aorta include left ventricular failure, cerebral haemorrhage, aortic dissection, renal vascular stenosis and infective endocarditis. This condition may result in death due to an aortic aneurysm or rupture in the third or fourth decade of life. It may also cause premature ischaemic heart disease as a result of hypertension. If left untreated, 20% of individuals die before 20 years of age and 80% before 50 years of age. Treatment options include surgical balloon dilatation or the grafting of a subclavian flap, and should surgical correction not normalise the blood pressure, further medical management is required.

Administration of IV prostaglandin/PGE1 (e.g., alprostadil) is indicated in ductal-dependent CHDs until surgery can be performedMechanism: prostaglandin prevents the ductus arteriosus from closing → creates intentional shunt to allow mixing of deoxygenated with oxygenated blood.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

The heart is the first organ to form and become functional, emphasizing the importance of transport of material to and from the developing infant. It originates about day 18 or 19 from the mesoderm and begins beating and pumping blood about day 21 or 22. It forms from the cardiogenic region near the head and is visible as a prominent heart bulge on the surface of the embryo. Originally, it consists of a pair of strands called cardiogenic cords that quickly form a hollow lumen and are referred to as endocardial tubes. These then fuse into a single heart tube and differentiate into the truncus arteriosus, bulbus cordis, primitive ventricle, primitive atrium, and sinus venosus, starting about day 22. The primitive heart begins to form an S shape within the pericardium between days 23 and 28. The internal septa begin to form about day 28, separating the heart into the atria and ventricles, although the foramen ovale persists until shortly after birth. Between weeks five and eight, the atrioventricular valves form. The semilunar valves form between weeks five and nine.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

PDA is particularly common in premature babies and it is managed by indomethacin administration. However, if PDA is not the only defect, prostaglandin E1 can be administered in order to keep the ductus open until the surgery takes place.

Tetralogy of Fallot usually is diagnosed after a baby is born, often after the infant has an episode of turning blue during crying or feeding (a tet spell). A loud heart murmur is usually present.An atrial septal defect is present at birth, but many babies do not have any signs or symptoms.Coarctation of the aorta is usually diagnosed after the baby is born. How early in life the defect is diagnosed usually depends on how mild or severe the symptoms are. New-born screening using pulse oximetry during the first few days of life may or may not detect coarctation of the aorta.In babies with a more serious condition, early signs usually include:pale skinirritabilityheavy sweatingdifficulty breathingBabies born with pulmonary atresia will show symptoms at birth or very soon afterwards. They may be cyanotic. However, it is not uncommon for a heart murmur to be absent right at birth.

The most probable diagnosis based on the clinical presentation is myocarditis secondary to Coxsackie virus infection.Myocarditis is an important cause of acquired heart failure. The other infective causes of myocarditis are influenza and adenoviruses, and bacterial causes as seen with Borrelia burgdorferi (Lyme disease). Rheumatic fever is unlikely if the ASO titres are within normal limits. While pancarditis may occur as part of Kawasaki disease| the patient is unlikely to present in failure.

Ebstein’s anomaly is characterised by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. The main haemodynamic abnormality leading to symptoms is tricuspid valve incompetence. The clinical spectrum is broad| patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). Many Ebstein’s anomaly patients have an interatrial communication (secundum atrial septal defect (ASD II) or patent foramen ovale). Other structural anomalies may also be present, including a bicuspid aortic valve (BAV), ventricular septal defect (VSD), and pulmonary stenosis. The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium.The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

Congenital heart diseases such as complete atrioventricular septal defects are most likely to cause large left to right shunts leading to faltering growth due to chronic severe hypoxia, pulmonary oedema, and feeding problems. Isolated atrial septal defects or ventricular septal defects result in relatively smaller shunts. Pulmonary stenosis and bicuspid aortic valve do not cause chronic systemic hypoxia. People with these conditions are often asymptomatic and only show some symptoms with intense physical activity.

The most common congenital cyanotic heart disease and the most common cause of blue baby syndrome, Tetralogy of Fallot shows four cardiac malformations occurring together. These are ventricular septal defect (VSD), pulmonary stenosis (right ventricular outflow obstruction), overriding aorta (degree of which is variable), and right ventricular hypertrophy. The primary determinant of severity of disease is the degree of pulmonary stenosis. Tetralogy of Fallot is seen in 3-6 per 10,000 births and is responsible for 5-7% congenital heart defects, with slightly higher incidence in males. It has also been associated with chromosome 22 deletions and DiGeorge syndrome. It gives rise to right-to-left shunt leading to poor oxygenation of blood. Primary symptom is low oxygen saturation in the blood with or without cyanosis at birth of within first year of life. Affected children ay develop acute severe cyanosis or ‘tet spells’ (sudden, marked increase in cyanosis, with syncope, and may result in hypoxic brain injury and death). Other symptoms include heart murmur, failure to gain weight, poor development, clubbing, dyspnoea on exertion and polycythaemia. Chest X-ray reveals characteristic coeur-en-sabot (boot-shaped) appearance of the heart. Treatment consists of immediate care for cyanotic spells and Blalock–Taussig shunt (BT shunt) followed by corrective surgery.

Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs| age-appropriate exercise capacity| respiratory or gastrointestinal manifestations of congestive heart failure| and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves. Red flags that increase the likelihood of a pathologic murmur include a holosystolic or diastolic murmur, grade 3 or higher murmur, harsh quality, an abnormal S2, maximal murmur intensity at the upper left sternal border, a systolic click, or increased intensity when the patient stands. Electrocardiography and chest radiography rarely assist in the diagnosis.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

Atrial septal defects may also occur in association with a variety of other congenital heart defects, or in new-borns that are relatively small or premature. The following conditions are associated with an atrial septal defect:Ebstein’s anomalyFoetal alcohol syndromeHolt-Oram syndromeDown syndromeEllis van Creveld syndromeLutembacher’s syndrome Ostium primum defects occur frequently in individuals with Down syndrome or Ellis van-Creveld syndrome.Holt-Oram syndrome characterized by an autosomal dominant pattern of inheritance and deformities of the upper limbs (most often, absent or hypoplastic radii) has been attributed to a single gene defect in TBX5Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. The physical features in affected males are variable and may not be obvious until puberty. These symptoms can include a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes. Other symptoms can include flat feet, frequent ear infections, low muscle tone, a long narrow face, high arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse.

Cyanotic congenital heart disease (CCHD) is a common cause of neonatal morbidity and mortality. They can be classified as CCHD due to:- Right-to-left shunt, associated with the decreased pulmonary flow, e.g., tetralogy of Fallot (TOF), pulmonary atresia, right-sided hypoplastic heart,- Right-to-left shunt, associated with the decreased aortic flow, e.g., left-sided hypoplastic heart, interrupted arch, severe coarctation| – Bidirectional shunt, e.g., TGA, DORV, TA, etc. Eisenmenger syndrome is not a neonatal CCHD| rather it develops later in young adulthood secondary to various CHD.

Tetralogy of Fallot (TOF), a congenital heart defect, includes the following: right ventricular hypertrophy, ventricular septal defect, abnormal position of the aorta and pulmonary valve stenosis. The O2 saturation in patients with TOF is typically lower than normal and the condition usually becomes symptomatic early in life. A feature of the disease with high diagnostic significance is squatting or crouching of the infant as a compensatory mechanism to increase the peripheral vascular resistance.