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)
Acute respiratory distress syndrome (ARDS) is a form of acute lung injury (ALI) and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury.
All-trans retinoic acid (ATRA) syndrome (more recently known as differentiation syndrome (DS)8) is a condition that can occur with patients with acute promyelocytic leukaemia who are on therapeutic all-trans-retinoic acid (ATRA).
All-trans-retinoic acid (ATRA) is a normal constituent of plasma....
Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischaemic events occurring in patients who have circulating antiphospholipid antibodies.
Patients have circulating antiphospholipid antibodies cross-re...
Pulmonary involvement in antiphospholipid syndrome is one of the most frequent arterial complications of antiphospholipid syndrome.
It is essentially related to pulmonary arterial microthrombosis and may cause a wide spectrum of conditions, which include 3-5:
Anti-synthetase syndrome (ASS) is a systemic, inflammatory, autoimmune disease that is characterised by inflammatory myositis, polyarthritis associated with interstitial lung disease (ILD) and anti-synthetase autoantibodies.
ASS can result from autoantibodies to eight of the aminoacy...
Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome, which is autosomal dominant and characterised by 1-4:
seen in two-thirds of patients with Carney complex
skin pigmentation (blue naevi): especially of the ...
The Carney triad (not to be confused with the related Carney Stratakis syndrome, or the unrelated Carney complex) is a rare syndrome defined by the coexistence of three tumours:
extra-adrenal paraganglioma (e.g. spinal paraganglioma)
initially, only functioning extra-adrenal paragangliomas wer...
Congenital high airways obstruction syndrome (CHAOS) refers a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway.
CHAOS can be of three possible types 2:
complete laryngeal atresia without an oesophageal f...
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
Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder in which the patient has a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centres. Congenital heart diseases have been described in mor...
Doege-Potter syndrome is a non-islet cell tumour hypoglycemia, secondary to a solitary fibrous tumour (SFT). It is rare, and more associated with malignant SFTs.
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognised male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as the Churg-Strauss syndrome (CSS), is a small to medium vessel necrotising pulmonary vasculitis. It is also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and granulomatosis.
Fat embolism syndrome (FES) is a rare clinical condition caused by circulating fat emboli leading to a multisystemic dysfunction. The classical clinical triad consists of:
It occurs in ~2.5% (range 0.5-4%) of th...
Folliculin gene-associated syndrome (FLCN-S) or Birt-Hogg-Dubé (BHD) syndrome is a genetic multisystemic disease mainly characterised by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumours (particularly chromophobe renal cell cancer and oncocytoma)
GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. It is a rare cause of pulmonary alveolar proteinosis.
GATA2 deficiency has considerably variable clinical mani...
Goodpasture syndrome (or antiglomerular basement membrane (anti-GBM) antibody disease) is an autoimmune disease characterised by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is type of pulmonary renal syndrome.
Goodpasture syndrome is defined by:
Good syndrome is a rare paraneoplastic syndrome in which a thymoma causes hypogammaglobulinemia and humoral immunodeficiency. It has been estimated to occur in 0.2%–2% of thymomas 2.
low to absent B-cells
T-cell mediated defects
CD4 T-cell lymphopenia
inverted CD4/CD8+ T-cell ratio
Hamman syndrome, also known as Macklin syndrome, refers to spontaneous pneumomediastinum along with subcutaneous emphysema.
It is a rare entity most often encountered in young adults. It is a known entity peri- and postpartum 3.
The condition is most common...
The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk. The syndrome includes:
rectal blood loss with hypochromic microcytic anaemia
pulmonary infiltrates (often recurrent)
Hepatopulmonary syndrome (HPS) refers to the combination of
hepatic dysfunction (cirrhosis)
hypoxaemia (alveolar-arterial O2 gradient of >15mmHg; >20mmHg in >64year old patients).
peripheral pulmonary arterial dilatation (due to right to left micro-shunts).
It is estimated to b...
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.
Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:
oculocutaneous hypopigmentation (albinism)
abnormal storage of autofluorescent pigment (ceroid or lipofuscin)
typically occurs within lysosomal organelles of the cells of multiple organs and the reti...
Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staph aureus chest infections, characteristic coarse facial appearance and dental pr...
Idiopathic pneumonia syndrome (IPS) refers to diffuse lung injury which can occur following haematopeotic stem cell transplantation where neither an infectious nor non-infectious aetiology can be found.
The incidence of IPS is thought to be around 12% following haematopoetic stem ...
Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of highly active anti-retroviral therapy (HAART). Increasing...
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary haemosiderosis and coeliac disease 1.
It is typically seen in children under the age of 15 but can occasionally be seen in adults.
History and etymology
It was originally described by ...
Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood.
The cause is not usually ...
Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis, consisting of:
hilar adenopathy: see thoracic manifestations of sarcoidosis
arthritis: see musculoskeletal manifestations of sarcoidosis
Mendelson syndrome or peptic pneumonia refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia.
The etiologic agents is believed to be aspiration of acidic stomach contents, other compounds, e.g. bile, may also play a rol...
Middle East Respiratory Syndrome coronavirus (MERS-CoV) infection is an uncommon viral infection (<1000 cases) with the first case reported in Saudi Arabia in 2012. It most commonly causes pneumonia and acute renal failure with a mortality rate of ~40%. MERS-CoV raises concern because of its sim...
Thoracic manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis.
For other thoracic manifestations as focal thoracic scoliosis, enlarged...
Ortner syndrome, also known as cardiovocal syndrome, is characterised by hoarse voice resulting from left recurrent laryngeal nerve palsy secondary to a cardiovascular disorder.
Left recurrent laryngeal nerve palsy in this condition is due to traction or compression of the nerve betw...
Paget-Schrötter syndrome, alternatively spelled Paget-Schroetter syndrome and also known as effort thrombosis, refers to primary thrombosis of the axillary and/or subclavian vein. It can be thought of as a venous equivalent of thoracic outlet syndrome.
It is associated with forced...
Pancoast syndrome results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumour or, less commonly, from other tumours involving the superior pulmonary sulcus. The syndrome consists of:
C8-T2 radicular pain
The classical syndrome is u...
Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems.
Pickwickian syndrome, or obesity hypoventilation syndrome (OHS), comprises the triad of obesity (BMI ≥30 kg/m2), daytime hypoventilation (awake hypercapnia and hypoxemia), and sleep-disordered breathing in the absence of alternative explanations (e.g. severe parenchymal lung disease, mechanical ...
Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognised cause of unilateral hyperlucent hemithorax.
Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimat...
Post-pneumonectomy syndrome is delayed complication of pneumonectomy characterised by respiratory compromise caused by severe mediastinal shift and counterclockwise rotation of the heart and great vessels.
Rare delayed complication of pneumonectomy, which is more common on the rig...
Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion, and usually with associated bronchiectasis.
Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). It ...
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes.
The disease predominantly occurs in young adults with a mean age at presentation of 21 years....
Shone syndrome, also known as Shone complex, is a rare syndrome characterised by left-sided, obstructive congenital heart defects.
Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1.
Patients, usually ne...
Straight back syndrome refers to loss of the normal thoracic kyphosis. Individuals with this condition can present with a cardiac murmur due to compression of the right ventricular outflow tract (RVOT) 2.
There is questionable association with mitral valve prolapse 1.
Superior vena cava (SVC) obstruction can occur from extrinsic compression, intrinsic stenosis or thrombosis. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms that results from this obstruct...
Swyer-James syndrome (SJS), also known as Swyer-James-MacLeod syndrome and Bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis.
The condition typically follows a viral respiratory infecti...
Thoracic outlet syndrome (TOS) refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture.
Clinical presentation will depend on the structure compre...
Williams syndrome (WS) is characterised by some or all or the following features:
craniofacial dysmorphism (e.g. elfin facies)
short stature (50% of cases)
mild to moderate mental retardation
supravalvular aortic stenosis 2
pulmonary artery stenosis 3
Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia.
chronic pulmonary insufficiency of prema...
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however the underlying pathogenesis yet to be fully elucidated. Obstructive azoopsermia at the level of the epididymis is thought to be the cause of infertility. The commonly refer...