Articles
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34 results found
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
Acute coronary syndrome
Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are:
ST elevation myocardial infarction (STEMI)
non-ST elevation myocardial infarction (NSTEMI)
unstable an...
Article
Athlete heart syndrome
Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise.
Epidemiology
The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...
Article
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome is a rare spectrum of disorders with an autosomal dominant pattern of inheritance 6. The syndrome incorporates all of 5:
Axenfeld anomaly: posterior embryotoxon and peripheral irido-corneal adhesions
Rieger anomaly: findings of Axenfeld anomaly along with corectopia (m...
Article
Barth syndrome
Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characte...
Article
Brugada syndrome
A cardiac "channelopathy" resulting from mutations in genes coding for cardiac sodium (Na+) channels, the Brugada syndrome is a common cardiac cause of sudden death in patients with structurally normal hearts.
Epidemiology
Age of diagnosis ranges from 2 days to 84 years old. It is estimated to...
Article
Congenital pulmonary venolobar syndrome
Congenital pulmonary venolobar syndrome is a condition comprising a rare group of cardiac and pulmonary congenital abnormalities occurring variably in combination. The abnormalities include:
anomalous pulmonary venous drainage
particularly scimitar syndrome with hypogenetic right lung
pulmona...
Article
Constrictive pericardial syndrome
Constrictive pericardial syndromes include 1:
transient constrictive pericarditis
a complication of acute (inflammatory) pericarditis in which the inflamed pericardium causes constrictive hemodynamics
resolution occurs within several weeks
chronic constrictive pericarditis
persistence of c...
Article
Down syndrome
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability and has numerous additional multisystem manifestations.
Epidemiology
The approximate worldwide incidence is approximately 1 in 800 live births 15...
Article
Dressler syndrome
Dressler syndrome (DS) is a delayed immune-mediated or secondary pericarditis developing weeks to months after a myocardial infarction (MI).
Terminology
Dressler syndrome is not to be confused with pericarditis epistenocardica (which is seen earlier in the post-myocardial infarction period) an...
Article
Eisenmenger syndrome
The Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal.
Epidemiology
In general, the shunts that lead to Eisenmenger syndrome share high pressure and high flow 3. As su...
Article
Eosinophilic endocarditis
Eosinophilic endocarditis, also known as Löffler (Loeffler) endocarditis, is one of the cardiac manifestations of idiopathic hypereosinophilic syndrome. It is also considered a form of cardiomyopathy.
Epidemiology
There is limited information on the incidence of eosinophilic endocarditis. The ...
Article
Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome is characterized by asthma, eosinophilia and small vessel necrotizing vasculitis and involves the lungs and other organs.
Epidemiology
The incidence typically peaks in middle age, 30-50 years of ag...
Article
Gardner-Silengo-Wachtel syndrome
Gardner-Silengo-Wachtel syndrome, also known as genito-palato-cardiac syndrome, is a rare male (46XY) gonadal dysgenesis condition that is assumed to be either an X-linked recessive or an autosomal recessive disorder 1.
Epidemiology
The estimated incidence is at <1 in 1,000,000 live births.
P...
Article
Heyde syndrome
Heyde syndrome is an association between aortic valve stenosis and gastrointestinal hemorrhage.
The etiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related d...
Article
Holt-Oram syndrome
Holt-Oram syndrome (HOS), also known as heart-hand syndrome, is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:
congenital heart defects
atrial septal defect (ASD) (commonest cardiac defect 4)
ventricular septal defect (VSD)
aortic coarctat...
Article
Hunter syndrome
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1.
Epidemiology
Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...
Article
Hypoplastic left heart syndrome
Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure.
It is one of the most common causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to ma...
Article
Jaffe-Campanacci syndrome
Jaffe-Campanacci syndrome is characterized by:
multiple non-ossifying fibromas of the long bones and jaw
café au lait spots
intellectual disability
kyphoscoliosis
hypogonadism or cryptorchidism
ocular malformations
cardiovascular malformations
giant cell granuloma of the jaw
axillary an...
Article
Lutembacher syndrome
Lutembacher syndrome refers to the rare combination of congenital atrial septal defect with acquired mitral stenosis.
History and etymology
It is named after Rene Lutembacher 4.
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