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Diseases » Mulibrey Nanism syndrome » Diagnosis

Diagnosis of Mulibrey Nanism syndrome

Mulibrey Nanism syndrome Diagnosis: Book Excerpts

Diagnostic Tests for Mulibrey Nanism syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Mulibrey Nanism syndrome.

Pericarditis: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Because pericarditis commonly coexists with other conditions, diagnosis of acute pericarditis depends on typical clinical features and elimination of other possible causes. The pericardial friction rub, a classic symptom, is a grating sound heard as the heart moves. It can usually be auscultated best during forced expiration, while the patient leans forward or is on his hands and knees in bed. It may have up to three components, corresponding to the timing of atrial systole, ventricular systole, and the rapid-filling phase of ventricular diastole. Occasionally, this friction rub is heard only briefly or not at all. Nevertheless, its presence, together with other characteristic features, is diagnostic of acute pericarditis. In addition, if acute pericarditis has caused very large pericardial effusions, physical examination reveals increased cardiac dullness and diminished or absent apical impulse and distant heart sounds.

Chest X-ray, echocardiogram, chest magnetic resonance imaging (MRI), heart MRI, heart computed tomography scan, and radionuclide scanning can detect fluid that has accumulated in the pericardial sac. They may also show enlargement of the heart and signs of inflammation or scarring, depending on the cause of pericarditis.

In patients with chronic pericarditis, acute inflammation or effusions don’t occur — only restricted cardiac filling.

Laboratory results reflect inflammation and may identify its cause:

❑ normal or elevated white blood cell count, especially in infectious pericarditis

❑ elevated erythrocyte sedimentation rate

❑ slightly elevated cardiac enzyme levels with associated myocarditis

❑ culture of pericardial fluid obtained by open surgical drainage or cardiocentesis (sometimes identifies a causative organism in bacterial or fungal pericarditis)

❑ electrocardiography showing the following changes in acute pericarditis: elevation of ST segments in the standard limb leads and most precordial leads without significant changes in QRS morphology that occur with MI, atrial ectopic rhythms such as atrial fibrillation and, in pericardial effusion, diminished QRS voltage.

Other pertinent laboratory data include blood urea nitrogen levels to check for uremia, antistreptolysin-O titers to detect rheumatic fever, and a purified protein derivative skin test to check for tuberculosis. In pericardial effusion, echocardiography is diagnostic when it shows an echo-free space between the ventricular wall and the pericardium.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Pericarditis: Diagnosis
(Handbook of Diseases)

Because pericarditis often coexists with other conditions, diagnosis of acute pericarditis depends on typical clinical features and elimination of other possible causes. It may be detected with X-ray, echocardiogram, magnetic resonance imaging, computed tomography, and coronary angiography. These tests may show scarring, contracture of the pericardium, or enlargement of the heart.

CLINICAL TIP: A classic symptom, the pericardial friction rub, is a grating sound heard as the heart moves. It can usually be auscultated best during forced expiration, with the patient leaning forward or resting on his hands and knees in the bed.

Pericardial friction rub may have up to three components, corresponding to the timing of atrial systole, ventricular systole, and the rapid-filling phase of ventricular diastole, Occasionally, it’s heard only briefly or not at all. Nevertheless, its presence, together with other characteristic features, is diagnostic of acute pericarditis.

In addition, if acute pericarditis has caused large pericardial effusions, the physical examination reveals increased cardiac dullness and diminished or absent apical impulse and distant heart sounds. Acute inflammation or effusions don’t occur in patients with chronic pericarditis — only those with restricted cardiac filling.

Laboratory results reflect inflammation and may identify its cause:

❑ normal or elevated white blood cell count, especially in infectious pericarditis

❑ slightly elevated cardiac enzyme levels with associated myocarditis

❑ culture of pericardial fluid obtained by open surgical drainage or cardiocentesis (sometimes identifies a causative organism in bacterial or fungal pericarditis).

Electrocardiography shows the following changes in acute pericarditis: elevation of ST segments in the standard limb leads and most precordial leads without the significant changes in QRS-complex morphology that occur with an MI, atrial ectopic rhythms such as atrial fibrillation, and diminished QRS complex in pericardial effusion.

Other pertinent laboratory studies include blood urea nitrogen level to check for uremia, antistreptolysin O titers to detect rheumatic fever, and a purified protein derivative skin test to check for tuberculosis. In pericardial effusion, echocardiography is diagnostic when it shows an echo-free space between the ventricular wall and the pericardium.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003