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ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and often light to severe intellectual disability .
Its applications include assessment of myocardial ischemia and viability, cardiomyopathies, myocarditis, iron overload, vascular diseases, and congenital heart disease. [5] It is the reference standard for the assessment of cardiac structure and function, [6] and is valuable for diagnosis and surgical planning in complex congenital heart ...
A physician may recommend cardiac imaging to support a diagnosis of a heart condition. Medical specialty professional organizations discourage the use of routine cardiac imaging during pre-operative assessment for patients about to undergo low or mid-risk non-cardiac surgery because the procedure carries risks and is unlikely to result in the change of a patient's management. [1]
Pre-excitation syndrome: Romano–Ward syndrome: Scimitar syndrome: Shone's syndrome: Short QT syndrome: Sick sinus syndrome: Taussig–Bing syndrome: double outlet right ventricle (DORV) and subpulmonic VSD. a cyanotic congenital heart defect: Timothy syndrome: Townes–Brocks syndrome: Triploid syndrome: Turner syndrome: VACTERL syndrome ...
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to form images of the organs in the body.
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2 ]
Chronic kidney disease: CLOVES syndrome Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome CML Chronic myelogenous leukemia: CMs Chiari malformations: CMT disease Charcot–Marie–Tooth disease: CMT1A Charcot–Marie–Tooth disease type 1A CMT1B Charcot–Marie–Tooth disease ...
Some studies have described Frank's sign as a marker of cardiovascular disease but not linked to the severity of the condition. [5] In contrast, other studies have rebutted any association between Frank's sign and coronary artery disease in diabetics. [6] There have also been reported cases of Frank's sign being a predictor of cerebral ...