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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 ...
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 ...
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, [1] is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys. Another name is "asplenia-cardiovascular defect-heterotaxy".
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 ]
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]
Berardinelli–Seip syndrome: An MRI image illustrating the lack of subcutaneous fat of a patient with the disease (G) compared to a control patient (A) Specialty: Endocrinology Symptoms: Mild specific body features, absence of subcutaneous fat, muscle hypertrophy, insulin resistance, gigantism/acromegaly, large appetite [1] Complications
The disease is a type of non-ischemic cardiomyopathy that primarily involves the right ventricle, though cases of exclusive left ventricular disease have been reported. It is characterized by hypokinetic areas involving the free wall of the ventricle, with fibrofatty replacement of the myocardium, with associated arrhythmias often originating ...