A 69 yo man presented with acute on chronic shortness of breath. His examination, ABG and CXR are normal. His ECG is non specific. You decide to perform an TTE.
Parasternal long axis view showing at least moderately thickened LV, with normal systolic function. Aortic and Mitral valves appear to be working normally. Left atrium appears dilated in this view
Apical four chamber and apical two chamber views of LV in X plane. Note again the very thick walls, normal LV contractility. RV may also appear thickened thought it is not possible to see completely in this view. RV function appears grossly normal.
MV inflow assessment of diastology. E/A ratio >2, high E velocity, MV declaration slope is short and steep, which combined with dilated LA, is constant with severe or restrictive diastolic dysfunction.
The patient was diagnosed with a restrictive cardiomyopathy. Restrictive cardiomyopathies have many different causes that have several pathophysiological changes in common that result in impaired ventricular filling. Clinically they result in diastolic heart failure – sometimes also known as HFPEF – heart failure with preserved ejection fraction. The echocardiogram may be the first indication that the symptoms are a result of a systemic disorder. Typical changes seen include:
- Non dilated, thickened LV (and RV) – often severe.
- Normal LV function
- Abnormal diastolic function, often severe, resulting in diastolic heart failure
- RV failure may develop over time
- Dilated atria
- Appearance of myocardial tissue may be abnormal e.g. speckled changes that occur with amyloid
- Other causes include sarcoid
Post mortem examination of two hearts: amyloidosis (left) and HCM (right).
Restrictive cardiomyopathies are caused by a vast array of different conditions, and often require extensive investigation to confirm the diagnosis.
- Infiltrative: Amyloidosis, Gauchers disease
- Inflammatory: Sarcoidosis
- Storage diseases: Haemochromotosis, Fabreys disease
- Endomyocardial: hyperoesinophilic disease (associated with LV thrombus), radiation induced (heavy calcification)
Amyloid is one of the more common infiltrative diseases, and is typified by speckled pattern of myocardium, along with other features mentioned above of restrictive cardiomyopathies. The valves may also become thickened. With time, a dilated cardiomyopathy may result.
You go back and further analyse the patients scan..
Zoom over the LV shows speckled pattern suggestive of amyloid.
The patient went on to have a myocardial biopsy.
Myocardial biopsy showing Amyloidosis
The patient was referred to a physician for ongoing investigations and care, which included right heart catheterisation which confirmed severe elevation of wedge (left atrial) pressures with mild pulmonary hypertension, and endomyocardial biopsy (see above)