Articles
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34 results found
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
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
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
Williams syndrome
Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features:
craniofacial dysmorphism (e.g. elfin facies)
oral abnormalities
short stature (50% of cases)
mild to moderate intellectual disability
supravalvular aortic stenosis ...
Article
Platypnoea-orthodeoxia syndrome
Platypnoea-orthodeoxia syndrome refers to the concomitant occurrence of dyspnea and hypoxemia, respectively, which are precipitated by assuming an upright position and alleviated by assuming a recumbent position 4.
Clinical presentation
As the name of the syndrome suggests, the hallmark clinic...
Article
Wolff-Parkinson-White syndrome
The Wolff-Parkinson-White syndrome describes paroxysmal tachydysrhythmias in the presence of a specific accessory pathway which allows direct electrical connection between the atria and ventricles, which usually exclusively occurs via the atrioventricular (AV) node. The accessory pathway is usua...
Article
Marfan syndrome
Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.
Epidemiology
The estimated prevalence is aro...
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.
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
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
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
Post cardiac arrest syndrome
The post cardiac arrest syndrome (PCAS) describes the clinicopathological state that manifests following most cardiac arrests. Clinically, it is manifested by a combination of neurological disturbance, multiorgan dysfunction and a systemic inflammatory response syndrome-like state.
Pathology
T...
Article
Polysplenia syndrome
Polysplenia syndrome, also known as left isomerism, is a type of heterotaxy syndrome where there are multiple spleens congenitally as part of left-sided isomerism.
Epidemiology
Polysplenia is seen predominantly in female patients. It is usually diagnosed in childhood or adulthood, later than a...
Article
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects.
Clinical presentation
craniofacial
cleft palate
ocular coloboma
prominent occiput
lo...
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
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
Raghib syndrome
Raghib syndrome is a rare developmental complex. It consists of:
persistence of the left superior vena cava
coronary sinus ostial atresia
atrial septal defect
It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...
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
Thiamine deficiency
Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi.
There are two main forms:
wet beriberi: high-output cardiac failure predominates
Shoshin beriberi 3: severe acute wet form with high mortality
d...
Article
Taussig-Bing anomaly
Taussig-Bing anomaly is a rare congenital heart malformation and is one of the variants of double outlet right ventricle. It consists of transposition of the aorta to the right ventricle and malposition of the pulmonary artery with subpulmonary ventricular septal defect.
History and etymology
...
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