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For further information, see CMDT Part 10-47: Restrictive Cardiomyopathy

Key Features

Essentials of Diagnosis

  • Right heart failure tends to dominate over left heart failure

  • Pulmonary hypertension is present

  • Amyloidosis is the most common cause

  • Echocardiography is key to diagnosis

  • Radionuclide imaging or myocardial biopsy can confirm amyloid

General Considerations

  • Characterized by impaired diastolic filling with reasonably preserved left ventricular (LV) chamber size

  • The diagnosis of cardiac amyloidosis has dramatically increased in the last few years since diagnostic testing has improved and there is an awareness of its prevalence

  • Infiltrative disorders beside amyloidosis that can also produce the picture include

    • Sarcoidosis

    • Gaucher disease

    • Hurler syndrome

    • Storage diseases such as

      • Hemochromatosis

      • Fabry disease

      • Glycogen storage diseases

  • Noninfiltrative diseases, such as familial cardiomyopathy and pseudoxanthoma elasticum, can be implicated rarely

  • Other secondary causes include

    • Diabetes

    • Systemic sclerosis (scleroderma)

    • Radiation

    • Chemotherapy

    • Coronary artery disease

    • Longstanding hypertension

Demographics

  • Prevalence of AL amyloid is approximately 12 cases per million

  • Prevalence of variant or hereditary ATTR amyloid is about 0.3 cases per million

  • Prevalence of wild type ATTR amyloid is 155–191 cases per million

  • Many experts believe the actual prevalence of wild type ATTR is much higher

  • Wild type (normal) occurs more commonly in the elderly and in men, and previously was referred to as "senile systemic amyloidosis"

  • Hereditary or variant ATTR is genetically transmitted, deposition occurs at an earlier age, and has associated neurologic impact

Clinical Findings

Symptoms and Signs

  • Angina

  • Syncope

  • Stroke

  • Peripheral neuropathy

  • Suggestive physical findings of amyloidosis

    • Periorbital purpura

    • Thickened tongue

    • Hepatomegaly

Differential Diagnosis

  • Restrictive cardiomyopathy must be distinguished from constrictive pericarditis; the key feature is that ventricular interaction is accentuated with respiration in constrictive pericarditis and that interaction is absent in restrictive cardiomyopathy

  • In addition, the pulmonary arterial pressure is invariably elevated in restrictive cardiomyopathy due to the high pulmonary capillary wedge pressure (PCWP) and is normal in uncomplicated constrictive pericarditis

Diagnosis

  • Conduction disturbances are frequently present

  • Low voltage on the ECG combined with ventricular hypertrophy on the echocardiogram is suggestive of disease

  • Echocardiogram

    • Reveals a small, thickened LV with bright myocardium (speckled), rapid early diastolic filling revealed by the mitral inflow Doppler, and biatrial enlargement

    • Characteristic longitudinal strain patterns may help identify cardiac amyloidosis

    • The LV chamber size is usually normal with a reduced LV ejection fraction (LVEF)

    • Atrial septal thickening may be evident

    • An amyloid variant that primarily affects the atria has been described

  • Technetium pyrophosphate imaging (bone scan imaging)

    • Can also identify amyloid deposition in the myocardium

    • Has become the noninvasive imaging modality of choice for diagnosing transthyretin amyloidosis

  • Cardiac MRI

    • Presents a distinctive pattern of diffuse hyperenhancement of the gadolinium image in amyloidosis

    • Late gadolinium hyperenhancement of ...

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