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17 results found

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 (non-STEMI) unstable...

Barth syndrome

Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy. It is characterised by: fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- le...

Congenital pulmonary venolobar syndrome

Congenital pulmonary venolobar syndrome is a condition comprised of a rare group of cardiac and pulmonary congenital abnormalities occurring variably in combination. The abnormalities include: anomalous pulmonary venous drainage particularly scimitar syndrome with hypogenic right lung pulmona...

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 also has numerous multi-system manifestations. Epidemiology According to the world health organisation (WHO), the approximate worldwide inci...

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-MI period) and is considered a r...

Heyde syndrome

Heyde syndrome is an association between aortic valve stenosis and gastrointestinal haemorrhage. The aetiology 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...

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 commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...

Jaffe-Campanacci syndrome

Jaffe-Campanacci syndrome is characterised 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 History and...

Lutembacher syndrome

Lutembacher syndrome refers to the association of an atrial septal defect (ASD) with mitral stenosis.  Both the defects can be either congenital or acquired. History and etymology It is named after Rene Lutembacher 4.

Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of defect in fibrillin 1 gene. The affected patients are tall with long disproportionate extremities and have pectus excavatum, arachnodactyly, and may also experience upward and lateral optic lens dis...

Metabolic syndrome

The metabolic syndrome, also known as syndrome X, is a set of five conditions, which together increase a patient's risk of developing cardiovascular disease 1. Clinical presentation There are five central components of the metabolic syndrome: hyperinsulinaemia impaired glucose tolerance dys...

Ortner syndrome

Ortner syndrome, also known as cardiovocal syndrome, is characterised by hoarse voice resulting from left recurrent laryngeal nerve palsy secondary to a cardiovascular disorder. Pathology Left recurrent laryngeal nerve palsy in this condition is due to traction or compression of the nerve betw...

PHACE syndrome

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: haemangiomas A: arterial anomalies C: coarctation of the aorta and ...

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...

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 ...

Wellens syndrome

Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to a specific ECG abnormality in the precordial T-wave segment. It can be associated with a critical stenosis of the proximal left anterior descending artery.

Williams syndrome

Williams syndrome (WS) is characterised by some or all or the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate mental retardation supravalvular aortic stenosis 2 pulmonary artery stenosis 3 renal insufficienc...

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