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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Often sinus node dysfunction produces no symptoms, especially early in the disease course. Signs and symptoms usually appear in more advanced disease and more than 50% of patients will present with syncope or transient near-fainting spells as well as bradycardias that are accompanied by rapid heart rhythms, referred to as tachycardia-bradycardia syndrome [4] [5] Other presenting signs or ...
Heyde's syndrome; A stenotic aortic valve: Specialty: Cardiology, general surgery, Hematology: Symptoms: Aortic valve stenosis symptoms: Chest pain (angina) or tightness Shortness of breath, especially during exertion or when lying down Fatigue or weakness Irregular heartbeat or heart palpitations Dizziness or fainting episodes Gastrointestinal bleeding symptoms: Occult (hidden) or overt ...
Although Irwin and Rippe cautioned in 2005 that the use of "multiple organ failure" or "multisystem organ failure" should be avoided, [1] both Harrison's (2015) and Cecil's (2012) medical textbooks still use the terms "multi-organ failure" and "multiple organ failure" in several chapters and do not use "multiple organ dysfunction syndrome" at all.
Triple-A syndrome is associated with mutations in the AAAS gene which encodes a protein known as ALADIN (ALacrima Achalasia adrenal Insufficiency Neurologic disorder). [10] [11] [12] In 2000, Huebner et al. mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster. [13]
Waterhouse–Friderichsen syndrome (WFS) is defined as adrenal gland failure due to hemorrhages in the adrenal glands, commonly caused by sepsis. Typically, the bacteria responsible for triggering the bleeding is Neisseria meningitidis. [1] The bacterial infection leads to massive bleeding into one or both adrenal glands. [2]
Thoracic outlet syndrome (TOS) is a condition in which there is compression of the nerves, arteries, or veins in the superior thoracic aperture, the passageway from the lower neck to the armpit, also known as the thoracic outlet. [1]
Gilbert syndrome produces an elevated level of unconjugated bilirubin in the bloodstream, but normally has no consequences.Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic.