Restrictive Cardiomyopathy Clinical Presentation
- Author: Alan Vainrib, MD; Chief Editor: Henry H Ooi, MD, MRCPI more...
Patients with restrictive cardiomyopathy (RCM) often present at an advanced stage of disease with pronounced cardiopulmonary symptoms. They usually complain of gradually worsening shortness of breath, progressive exercise intolerance, and fatigue. Fatigue and weakness are results of decreased stroke volume and cardiac output. Paroxysmal nocturnal dyspnea may be reported.
Patients may have distention of the abdomen secondary to ascites, but they frequently have profound bilateral peripheral edema. Abdominal discomfort or liver tenderness may be reported.
Chest pain secondary to angina or chest pain mimicking myocardial ischemia can be observed, primarily in patients with amyloidosis, possibly due to myocardial compression of small vessels. Patients may complain of palpitations, frequently due to atrial fibrillation, which is common in idiopathic RCM.
As many as one third of patients with idiopathic RCM may present with thromboembolic complications, especially pulmonary emboli secondary to blood clots in the legs. If atrial fibrillation is present, a high risk of left atrial clots and systemic emboli is present.
Patients may have a history of syncopal attacks from a variety of causes, but orthostatic hypotension secondary to a peripheral and/or autonomic neuropathy should be excluded. Syncope and sudden death are common in AL amyloidosis, but ventricular arrhythmias are uncommon. Electrical-mechanical dissociation is more common. Conduction disturbances are particularly common in some forms of infiltrative RCM, but not in amyloidosis.
Depending on the etiology, patients may have a prior history of radiation therapy, heart transplantation, chemotherapy, or a systemic disease.
A careful general physical examination must be conducted to search for extracardiac manifestations of a systemic disorder that may cause secondary restrictive cardiomyopathy (eg, hemochromatosis, amyloidosis, sarcoidosis, or scleroderma).[9, 10] Particular attention should be paid to the cardiovascular and respiratory systems.
Patients may be more comfortable in the sitting position because of fluid in the abdomen or lungs. Weight loss and cardiac cachexia are not uncommon. Easy bruising, periorbital purpura, macroglossia, and other systemic findings, such as carpal tunnel syndrome, should advise the clinician to consider amyloidosis.
Increased jugular venous pressure is present, with rapid x and y descents; the most prominent finding is usually the rapid y descent. The degree of elevation of the jugular venous pressure indicates the severity of impaired filling of the right ventricle.
The jugular venous pulse fails to fall during inspiration and may actually rise (Kussmaul sign) in constrictive pericarditis. Although less common in RCM, Kussmaul sign cannot be used as an absolute means to distinguish RCM and constrictive pericarditis. The pulse volume is decreased, consistent with decreased stroke volume and cardiac output.
Patients frequently have ascites and pitting edema of the lower extremities. The liver is usually enlarged and full of fluid, which may be painful. However, the liver may be enlarged and firm due to amyloid infiltration. Splenomegaly is rare.
Cardiovascular system examination
Heart sounds S1 and S2 are normal, with a normal S2 split. A loud early diastolic filling sound (S3) may be present but is uncommon in amyloidosis. A fourth heart sound (S4) is almost never present, possibly secondary to amyloid infiltration of the atria. Murmurs due to mitral and tricuspid valve regurgitation may be heard, but they are secondary to the myocardial disease and usually not hemodynamically significant.
Respiratory system examination
Breath sounds are decreased due to pleural effusion, frequently bilateral, and large in amyloidosis. Crepitations or rales are rarely heard, even in advanced heart failure of amyloidosis.
Complications of RCM may include the following:
Progressive deterioration of cardiac function
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|Clinical Features||Constrictive Pericarditis||Restrictive Cardiomyopathy|
|History||Prior history of pericarditis or condition that causes pericardial disease||History of systemic disease (eg, amyloidosis, hemochromatosis)|
|General examination||…||Peripheral stigmata of systemic disease|
|Systemic examination - Heart sounds||Pericardial knock, high-frequency sound||Presence of loud diastolic filling sound S3, Low-frequency sound|
|Murmurs||No murmurs||Murmurs of mitral and tricuspid insufficiency|
|Prior chest radiograph||Pericardial calcification||Normal results of prior chest radiograph|
|Investigation||Constrictive Cardiomyopathy||Restrictive Cardiomyopathy|
|Chest radiograph||Pericardial calcification||Atrial dilatation causing increased cardiothoracic ratio, normal ventricular size|
|CT scan/MRI||Pericardial thickening||No pericardial thickening|
|Echocardiography||Normal-sized ventricles and atria; pericardial thickening, pericardial effusion may be observed||Nondilated, normally contracting, nonhypertrophied ventricles and marked dilatation of both atria; speckled texture of myocardium in cases of amyloid infiltration of the heart|
|Doppler flow velocities on echocardiography||Respiratory changes (ie, decreased peak transmitral diastolic flow) during inspiration Equalization of the right- and left-sided filling pressures||No respiratory changes Greater elevation in the left-sided filling pressures|
2) RVEDP:RVSP ratio
3) RVEDP/LVEDP equalization
1) = 50 mm Hg
2) = 0.33
3) = 5 mm Hg difference
1) = 50 mm Hg
2) = 0.33
3) = 5 mm Hg difference
|Cardiac biopsy||Normal myocardium||Often diagnostic, showing abnormal myocardium|
|CT = computed tomography; LVEDP = left ventricular end-diastolic pressure; MRI = magnetic resonance imaging; RVEDP = right ventricular end-diastolic pressure; RVSP = right ventricular systolic pressure.|