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An enlargement of the aorta may occur; an increased risk of abnormality is seen in babies of women taking lithium during the first trimester of pregnancy (though some have questioned this) and in those with Wolff-Parkinson-White syndrome.
While Ebstein's anomaly is defined as the congenital displacement of the tricuspid valve towards the apex of the right ventricle, it is often associated with other abnormalities.
Crisscross heart is a type of congenital heart defect where the right atrium is closely associated with the left ventricle in space, and the left atrium is closely associated with the right ventricle.
Although it is classified as a defect, the criss-cross is more of a spatial anomaly than a functional one, and it is possible for the heart to have relatively normal functioning.
Taussig–Bing syndrome (after Helen B. Taussig and Richard Bing) is a cyanotic congenital heart defect in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).
In DORV, instead of the normal situation where blood from the left ventricle (LV) flows out to the aorta and blood from the right ventricle (RV) flows out to the pulmonary artery, both aorta and pulmonary artery are connected to the RV, and the only path for blood from the LV is across the VSD. When the VSD is subpulmonic (sitting just below the pulmonary artery), the LV blood then flows preferentially to the pulmonary artery. Then the RV blood, by default, flows mainly to the aorta.
The clinical manifestations of a Taussig-Bing anomaly, therefore, are much like those of dextro-Transposition of the great arteries (but the surgical repair is different). It can be corrected surgically also with the arterial switch operation (ASO).
It is managed with Rastelli procedure.
In 2009, The Congenital Heart Surgeons' Society (CHSS) established a North American Registry in order to study a large multi-institutional cohort of patients with AAOCA. This initiative is intended to generate new knowledge concerning the natural history of AAOCA, to describe the outcomes of surgical intervention versus observation in children and young adults with AAOCA, and to generate evidence to support risk stratification among patients with AAOCA and eventually suggest evidence-based guidelines for management.
Anomalous aortic origin of a coronary artery (AAOCA) from the inappropriate sinus of Valsalva with an interarterial, intraconal, or intramural course is a rare heart defect associated with an increased risk of sudden death in children.
Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation.
In some cases, it can be asymptomatic, and in other cases it can lead to fluid accumulation and cardiopulmonary collapse.
Three findings are enlarged right ventricular cavity without apical trabeculation with a thin hypokinetic ventricular wall.
People with WPW are usually asymptomatic when not having a fast heart rate. However, individuals may experience palpitations, dizziness, shortness of breath, or infrequently syncope (fainting or near fainting) during episodes of supraventricular tachycardia. The telltale "delta wave" may sometimes be seen on an electrocardiogram (ECG/EKG).
Anomalous left coronary artery from the pulmonary artery (ALCAPA or Bland-White-Garland syndrome or White-Garland syndrome) is a rare congenital anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. After birth, the pressure in other coronary arteries (namely the RCA) will have a pressure that exceeds the LCA and collateral circulation will increase. This, ultimately, can lead to blood flowing from the RCA into the LCA (retrograde) and into the pulmonary artery, thus forming a left-to-right shunt.
The syndrome is named for Edward Franklin Bland, Paul Dudley White, and Joseph Garland.
Wolff–Parkinson–White syndrome (WPW) is a disorder due to a specific type of problem with the electrical system of the heart which has resulted in symptoms. About 40% of people with the electrical problem never develop symptoms. Symptoms can include an abnormally fast heartbeat, palpitations, shortness of breath, lightheadedness, or syncope. Rarely cardiac arrest may occur. The most common type of irregular heartbeat that occurs is known as paroxysmal supraventricular tachycardia.
The cause of WPW is typically unknown. A small number of cases are due to a mutation of the PRKAG2 gene which may be inherited from a person's parents in an autosomal dominant fashion. The underlying mechanism involves an accessory electrical conduction pathway between the atria and the ventricles. It is associated with other conditions such as Ebstein anomaly and hypokalemic periodic paralysis. Diagnosis is typically when an electrocardiogram (ECG) show a short PR interval and a delta wave. It is a type of pre-excitation syndromes.
WPW syndrome is treated with either medications or radiofrequency catheter ablation. It affects between 0.1 and 0.3% in the population. The risk of death in those without symptoms is about 0.5% per year in children and 0.1% per year in adults. In those without symptoms ongoing observation may be reasonable. In those with WPW complicated by atrial fibrillation, cardioversion or the medication procainamide may be used. The condition is named after Louis Wolff, John Parkinson, and Paul Dudley White who described the ECG findings in 1930.
Uhl's anomaly was first described in 1952 by Dr. Henry Uhl (1921–2009) upon examining one of his patients. It is a very rare congenital heart disease (less than 100 cases 1900–1993) with a partial or total loss of the myocardial muscle in the right ventricle.
During development of aortic arch, if the proximal portion of the right fourth arch disappears instead of distal portion, the right subclavian artery will arise as the last branch of aortic arch. It then courses behind the esophagus (or rarely in front of esophagus, or even in front of trachea) to supply blood to right arm. This causes pressure on esophagus and results in dysphagia. It can sometimes result in upper gastrointestinal tract bleeding.
Dysphagia lusoria (or Bayford-Autenrieth dysphagia) is abnormal condition characterized by difficulty in swallowing caused by aberrant right subclavian artery. It was discovered by David Bayford in 1761 and first reported in a paper by the same in 1787.
The general presentation is of a skin-covered nodule, papule, or nodule of the skin surface, usually immediately anterior to the auricle. However, it may be anywhere within the periauricular tissues. Bilateral presentation can be seen.
The several components or degrees of development range from an ear tag, preauricular appendage, preauricular tag, or accessory tragus, to supernumerary ears or polyotia. It is a relatively common congenital anomaly of the first branchial arch or second branchial arches. Other anomalies may be present concurrently, including cleft palate, cleft lip, or mandibular hypoplasia. There is a known association with Goldenhar syndrome (oculo-auriculo-vertebral syndrome) and with Wildervanck syndrome. There may also be an association with congenital cartilaginous rest of the neck.
A majority of individuals born with pancreas divisum will not have symptoms. In some cases, pancreas divisum is only detected during autopsy. A small group of individuals will develop symptoms which commonly include abdominal pain, nausea, vomiting, and acute and chronic pancreatitis.
Sinus pericranii typically present as soft palpable masses along midline skull, which may fluctuate in size depending on body positioning. Classically, these lesions are not associated with color change of the overlying skin, such as with other vascular lesions such as hemangioma.
Megaureter is a medical anomaly whereby the ureter is abnormally . Congenital megaureter is an uncommon condition which is more common in males, may be bilateral, and is often associated with other congenital anomalies. The cause is thought to be aperistalsis of the distal ureter, leading to dilatation.
The cutoff value for megaureter is when it is wider than 6 or 7 mm.
A functional obstruction at the lower end of the ureter leads to progressive dilatation and a tendency to infection. The ureteric orifice appears normal and a ureteric catheter passes easily.
Definitive surgical treatment involves refashioning the lower end of the affected ureter so that a tunnelled reimplantation into the bladder can be done to prevent reflux.
Stratton parker syndrome is a rare disorder characterized by short stature, wormian bones (extra cranial bones), and dextrocardia (displaced heart). Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism, and anal atresia. The condition was first described by Stratton and Parker in 1989, and there have been only four reported cases worldwide. Two cases of the syndrome were reported by Gilles-Eric Seralini in 2010 after having been contacted in January 2009.
Alternative names include "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" and "Short stature wormian bones dextrocardia"
Anterior segment mesenchymal dysgenesis is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.
Peters' (frequently misspelled Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea, and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens, and anterior chamber.
SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay.
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.
This is characterized by hand and arm abnormalities. The following are specific characteristics:
- Malformed or absent (aplasia) thumb
- A thumb that looks more like a finger
- Partial or complete absence of a radius
- Shortening and radial deviation of the forearms
- Triphalangeal thumb
- Duplication of the thumb (preaxial polydactyly)
A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral.
Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.
Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.