Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a fairly uncommon condition characterized by progressive stiffening of the cardiac muscle, which causes impaired relaxation and refilling of the heart during diastole, resulting in diastolic dysfunction and eventual heart failure. It most often occurs secondary to scarring, damage, and/or infiltration of the heart muscle, with amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis being the most common cause. Infrequently, it may be idiopathic or inherited. Signs and symptoms include shortness of breath, low exercise tolerance, fatigue, and peripheral edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema. Diagnosis is made through clinical suspicion and confirmed through ECG ECG An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Normal Electrocardiogram (ECG), X-ray, echocardiography, and cardiac MRI. Treatment includes medications for heart failure, implantable devices such as pacemakers and cardioverter–defibrillators, and heart transplantation in refractory cases.

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Overview

Definition

Restrictive cardiomyopathy (RCM) is a disease of the heart muscle characterized by decreased compliance of the ventricles, nondilated heart muscle, and diastolic dysfunction (impaired filling of the ventricles).

Epidemiology

  • Rarest cardiomyopathy
  • 5% of all cases
  • Incidence and prevalence are etiology-dependent:
    • Amyloidosis
      • Most common RCM in the United States
      • Men = women
      • Common in elderly
    • Sarcoidosis Sarcoidosis Sarcoidosis is a multisystem inflammatory disease that causes noncaseating granulomas. The exact etiology is unknown. Sarcoidosis usually affects the lungs and thoracic lymph nodes, but it can also affect almost every system in the body, including the skin, heart, and eyes, most commonly. Sarcoidosis
      • Women > men
      • Highest incidence in Japan
      • Highest prevalence among Black women
    • Hemochromatosis
      • 1 in 200
      • Men = women
    • Loeffler endocarditis Endocarditis Endocarditis is an inflammatory disease involving the inner lining (endometrium) of the heart, most commonly affecting the cardiac valves. Both infectious and noninfectious etiologies lead to vegetations on the valve leaflets. Patients may present with nonspecific symptoms such as fever and fatigue. Endocarditis
      • Increased incidence and frequent cause of death in the tropics of Africa, Asia, and South and Central America
      • Secondary to high incidence of endomyocardial fibrosis in those areas

Etiology

  • Idiopathic
  • Familial:
    • Various known gene mutations
    • Typically associated with amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis or considered part of familial hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is the most commonly inherited cardiomyopathy, which is characterized by an asymmetric increase in thickness (hypertrophy) of the left ventricular wall, diastolic dysfunction, and often left ventricular outflow tract obstruction. Hypertrophic Cardiomyopathy
  • Underlying disease or condition causing scarring or damage to the heart muscle:
    • Amyloidosis (most common cause)
    • Sarcoidosis Sarcoidosis Sarcoidosis is a multisystem inflammatory disease that causes noncaseating granulomas. The exact etiology is unknown. Sarcoidosis usually affects the lungs and thoracic lymph nodes, but it can also affect almost every system in the body, including the skin, heart, and eyes, most commonly. Sarcoidosis
    • Hemochromatosis
    • Endomyocardial fibrosis
    • Loeffler endocarditis Endocarditis Endocarditis is an inflammatory disease involving the inner lining (endometrium) of the heart, most commonly affecting the cardiac valves. Both infectious and noninfectious etiologies lead to vegetations on the valve leaflets. Patients may present with nonspecific symptoms such as fever and fatigue. Endocarditis (eosinophillic endocarditis Endocarditis Endocarditis is an inflammatory disease involving the inner lining (endometrium) of the heart, most commonly affecting the cardiac valves. Both infectious and noninfectious etiologies lead to vegetations on the valve leaflets. Patients may present with nonspecific symptoms such as fever and fatigue. Endocarditis)
    • Postradiation fibrosis
    • Scleroderma Scleroderma Scleroderma (systemic sclerosis) is an autoimmune condition characterized by diffuse collagen deposition and fibrosis. The clinical presentation varies from limited skin involvement to diffuse involvement of internal organs. Scleroderma
    • Tumors

Pathophysiology

  • Cardiac muscle becomes increasingly stiff owing to:
    • Infiltration with abnormal cell/substances
    • Excessive deposition of metabolic by-products
    • Direct fibrosing injury
  • Reduced compliance and impaired ability to expand → impaired relaxation of the heart (diastole) 
  • Heart muscle cannot fill properly during diastole → increased filling pressures and diastolic dysfunction → atria become dilated/enlarged secondary to the increased pressures → pulmonary and systemic congestion 
  • With increases in heart rate, heart is unable to adequately ↑ cardiac output
  • Systolic function is usually normal.
  • No ventricular dilation or thickening

Clinical Presentation

Presentation is similar to that seen with right heart failure.

Symptoms

  • Dyspnea Dyspnea Dyspnea is the subjective sensation of breathing discomfort. Dyspnea is a normal manifestation of heavy physical or psychological exertion, but also may be caused by underlying conditions (both pulmonary and extrapulmonary). Dyspnea (shortness of breath), especially with exertion
  • Orthopnea (shortness of breath when lying down, as while sleeping)
  • Intolerance to exercise
  • Swelling in lower extremities and possibly abdomen
  • Weight gain
  • Dizziness
  • Syncopal episodes
  • Chest pain Chest Pain Chest pain is one of the most common and challenging complaints that may present in an inpatient and outpatient setting. The differential diagnosis of chest pain is large and includes cardiac, gastrointestinal, pulmonary, musculoskeletal, and psychiatric etiologies. Chest Pain
  • Palpitations
  • Cough
  • Fatigue 
  • Weakness

Physical exam

  • Cardiac:
    • S3 gallop
    • Systolic heart murmur (from mitral or tricuspid regurgitation Tricuspid regurgitation Tricuspid regurgitation (TR) is a valvular defect that allows backflow of blood from the right ventricle to the right atrium during systole. Tricuspid regurgitation can develop through a number of cardiac conditions that cause dilation of the right ventricle and tricuspid annulus. A blowing holosystolic murmur is best heard at the left lower sternal border. Tricuspid Regurgitation)
    • Point of maximal impulse typically normal
    • Jugular venous distention, particularly Kussmaul’s sign (jugular distention on inspiration), may be present.
  • Pulmonary: rales or crackles over lung fields (secondary to pulmonary edema Pulmonary edema Pulmonary edema is a condition caused by excess fluid within the lung parenchyma and alveoli as a consequence of a disease process. Based on etiology, pulmonary edema is classified as cardiogenic or noncardiogenic. Patients may present with progressive dyspnea, orthopnea, cough, or respiratory failure. Pulmonary Edema)
  • Abdominal: hepatomegaly
  • Pitting edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema in lower extremities
Jugular venous distension hf

Jugular venous distension:
Elevated filling level of jugular vein can be a nonspecific finding in heart failure.

Image by Lecturio.

Diagnosis

History and physical exam

  • Signs and symptoms suggestive of heart failure:
    • Ascites Ascites Ascites is the pathologic accumulation of fluid within the peritoneal cavity that occurs due to an osmotic and/or hydrostatic pressure imbalance secondary to portal hypertension (cirrhosis, heart failure) or non-portal hypertension (hypoalbuminemia, malignancy, infection). Ascites
    • Dependent edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema
    • Decreased exercise tolerance
  • Signs of causative pathologies:
    • Hemochromatosis: bronze skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Structure and Function of the Skin
    • Amyloidosis: carpal tunnel syndrome Carpal Tunnel Syndrome Carpal tunnel syndrome (CTS) is a complex of signs and symptoms caused by compression of the median nerve as it crosses the carpal tunnel. Presentation is with pain and paresthesia of the dermatomal target tissues innervated by the median nerve as well as weakness and atrophy of the nerve's myotomal targets. Carpal Tunnel Syndrome
    • Sarcoidosis Sarcoidosis Sarcoidosis is a multisystem inflammatory disease that causes noncaseating granulomas. The exact etiology is unknown. Sarcoidosis usually affects the lungs and thoracic lymph nodes, but it can also affect almost every system in the body, including the skin, heart, and eyes, most commonly. Sarcoidosis: respiratory symptoms

Laboratory studies

  • ↑ BNP:
    • BNP is a marker of heart failure.
    • Renal failure can also increase BNP, making it less diagnostic in those cases.
  • Measure BUN and creatinine to monitor renal function/perfusion.
  • To investigate underlying cause, perform additional tests such as serum and urine protein tests ( amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis).

Electrocardiography

  • Typically abnormal but nonspecific 
  • May include ST changes, conduction delays, and other arrhythmias
  • Low voltage may be noted in amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis.
Ecg showing restrictive cardiomyopathy

Patient with cardiac amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis:
Right and left ventricular tracing with concordant change in pressures during expiration and inspiration confirming the diagnosis of restrictive cardiomyopathy

Image: “Cardiac amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis” by Division of Cardiology, University of South Alabama, Mobile, Alabama, USA. License: CC BY 2.5

Chest radiography

  • May show normal or enlarged heart with biatrial dilatation and pleural effusions
  • Presence of pericardial calcification leads to suspicion for constrictive pericarditis Pericarditis Pericarditis is an inflammation of the pericardium, often with fluid accumulation. It can be caused by infection (often viral), myocardial infarction, drugs, malignancies, metabolic disorders, autoimmune disorders, or trauma. Acute, subacute, and chronic forms exist. Pericarditis as an alternative diagnosis

Echocardiography

  • Assess cardiac:
    • Size
    • Structure
    • Function 
    • Differentiate from other causes.
  • Findings:
    • Biatrial enlargement 
    • Abnormal diastolic function with a restrictive filling pattern
    • Relatively preserved ventricular size, wall thickness, and left ventricular systolic function
  • Ventricles may have abnormal appearance in setting of infiltrative processes or storage deposition diseases.

Cardiac magnetic resonance imaging with gadolinium enhancement

Cardiac MRI with gadolinium enhancement can identify and determine extent of:

  • Myocardial damage
  • Fibrosis
  • Scarring
  • Necrosis
  • Infiltrative processes

Other considerations and tests

  • Endomyocardial biopsy may be done to confirm diagnosis in cases in which prior workup has been inconclusive.
  • Further evaluation is required to determine underlying cause.
  • If no secondary/underlying cause is identified, further evaluation of family history for possible familial hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is the most commonly inherited cardiomyopathy, which is characterized by an asymmetric increase in thickness (hypertrophy) of the left ventricular wall, diastolic dysfunction, and often left ventricular outflow tract obstruction. Hypertrophic Cardiomyopathy is recommended.
  • Idiopathic RCM is a diagnosis of exclusion.

Management

Treatment

Treatment is aimed at managing heart failure and underlying secondary causes.

Goals of treatment:

  • ↓ Pulmonary and systemic venous congestion
  • ↓ Venous pressure
  • HR control to ↑ filling time (with caution to avoid bradycardia)
  • Maintain atrial contractions.
  • Manage/correct conduction disturbances.
  • Manage/avoid anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview, electrolyte imbalances, nutrient deficiencies, and calcium overload.

Medication:

  • Loop diuretics Loop diuretics Loop diuretics are a group of diuretic medications primarily used to treat fluid overload in edematous conditions such as heart failure and cirrhosis. Loop diuretics also treat hypertension, but not as a 1st-line agent. Loop Diuretics (i.e., furosemide (Lasix)) to ↓ edema Edema Edema is a condition in which excess serous fluid accumulates in the body cavity or interstitial space of connective tissues. Edema is a symptom observed in several medical conditions. It can be categorized into 2 types, namely, peripheral (in the extremities) and internal (in an organ or body cavity). Edema/fluid overload
  • Calcium channel blockers Calcium Channel Blockers Calcium channel blockers (CCBs) are a class of medications that inhibit voltage-dependent L-type calcium channels of cardiac and vascular smooth muscle cells. The inhibition of these channels produces vasodilation and myocardial depression. There are 2 major classes of CCBs: dihydropyridines and non-dihydropyridines. Class 4 Antiarrhythmic Drugs (Calcium Channel Blockers) (i.e., verapamil) to control HR and ↑ filling time
  • Beta-blockers may control HR, ↑ filling time, and ↑ ventricular relaxation.
  • ACE inhibitors or angiotensin II receptor blockers (ARBs) are helpful in select cases.
  • Oral anticoagulation, such as with warfarin, is necessary if atrial fibrillation Atrial fibrillation Atrial fibrillation (AF or Afib) is a supraventricular tachyarrhythmia and the most common kind of arrhythmia. It is caused by rapid, uncontrolled atrial contractions and uncoordinated ventricular responses. Atrial Fibrillation is present.

Surgical intervention:

  • Devices (pacemaker or implanted cardioverter–defibrillator) in significant arrhythmias or conduction disorders
  • Cardiac transplantation in patients with severe heart failure refractory  to treatment

Complications

  • Arrhythmias
  • Thromboembolic events (i.e., pulmonary embolism Pulmonary Embolism Pulmonary embolism (PE) is a potentially fatal condition that occurs as a result of intraluminal obstruction of the main pulmonary artery or its branches. The causative factors include thrombi, air, amniotic fluid, and fat. In PE, gas exchange is impaired due to the decreased return of deoxygenated blood to the lungs. Pulmonary Embolism or cerebrovascular accident Cerebrovascular accident An ischemic stroke (also known as cerebrovascular accident) is an acute neurologic injury that occurs as a result of brain ischemia; this condition may be due to cerebral blood vessel occlusion by thrombosis or embolism, or rarely due to systemic hypoperfusion. Ischemic Stroke)
  • Sudden cardiac death

Prognosis

  • Poor with ↓ survival rates
  • Those with restrictive cardiomyopathy due to radiation/chemotherapy or amyloidosis Amyloidosis Amyloidosis is a disease caused by abnormal extracellular tissue deposition of fibrils composed of various misfolded low-molecular-weight protein subunits. These proteins are frequently byproducts of other pathological processes (e.g., multiple myeloma). Amyloidosis have worse prognosis.
  • Male sex, age > 70 years, and more advanced diastolic dysfunction are also associated with poor prognosis.

Differential Diagnosis

  • Constrictive pericarditis Pericarditis Pericarditis is an inflammation of the pericardium, often with fluid accumulation. It can be caused by infection (often viral), myocardial infarction, drugs, malignancies, metabolic disorders, autoimmune disorders, or trauma. Acute, subacute, and chronic forms exist. Pericarditis: a disorder in which the pericardial sac becomes thickened and fibrotic, impairing the heart’s ability to function properly: Signs and symptoms are similar to those of RCM. Anything that can cause acute pericarditis Pericarditis Pericarditis is an inflammation of the pericardium, often with fluid accumulation. It can be caused by infection (often viral), myocardial infarction, drugs, malignancies, metabolic disorders, autoimmune disorders, or trauma. Acute, subacute, and chronic forms exist. Pericarditis ( inflammation Inflammation Inflammation is a complex set of responses to infection and injury involving leukocytes as the principal cellular mediators in the body's defense against pathogenic organisms. Inflammation is also seen as a response to tissue injury in the process of wound healing. The 5 cardinal signs of inflammation are pain, heat, redness, swelling, and loss of function. Inflammation of pericardial sac) can cause constrictive pericarditis Pericarditis Pericarditis is an inflammation of the pericardium, often with fluid accumulation. It can be caused by infection (often viral), myocardial infarction, drugs, malignancies, metabolic disorders, autoimmune disorders, or trauma. Acute, subacute, and chronic forms exist. Pericarditis as well. It may be differentiated from RCM by the presence of a pericardial knock noted on exam, calcifications in the pericardium seen on a chest radiograph, and differentiating findings on cardiac MRI. Treatment involves removing the pericardium.  
  • Dilated cardiomyopathy Dilated Cardiomyopathy Dilated cardiomyopathy (DCM) is the most common type of non-ischemic cardiomyopathy and a common cause of heart failure (HF). The cause may be idiopathic, familial, or secondary to a variety of underlying conditions. The disease is characterized by the enlargement of 1 or both ventricles and reduced systolic function. Dilated Cardiomyopathy (DCM): most common type of nonischemic cardiomyopathy: Etiology may be idiopathic, familial, or secondary to a variety of underlying conditions. Dilated cardiomyopathy Dilated Cardiomyopathy Dilated cardiomyopathy (DCM) is the most common type of non-ischemic cardiomyopathy and a common cause of heart failure (HF). The cause may be idiopathic, familial, or secondary to a variety of underlying conditions. The disease is characterized by the enlargement of 1 or both ventricles and reduced systolic function. Dilated Cardiomyopathy is characterized by enlargement of one or both ventricles and reduced systolic function. Patients typically present with signs and symptoms of heart failure. Similar studies as those performed for RCM help to obtain the diagnosis. Treatment is also similar to that for RCM, including medications and devices. Dilated cardiomyopathy Dilated Cardiomyopathy Dilated cardiomyopathy (DCM) is the most common type of non-ischemic cardiomyopathy and a common cause of heart failure (HF). The cause may be idiopathic, familial, or secondary to a variety of underlying conditions. The disease is characterized by the enlargement of 1 or both ventricles and reduced systolic function. Dilated Cardiomyopathy is the most common reason for cardiac transplantation. 
  • Hypertrophic cardiomyopathy (HCM): the most common inherited cardiomyopathy: Gene mutations affect contractile components of the heart called sarcomeres. The inheritance pattern is autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance; however, de novo mutations also occur. HCM is characterized by left ventricular asymmetrical wall thickening, diastolic dysfunction, and left ventricular outflow tract obstruction. Patients may be asymptomatic or suffer sudden cardiac death as the first sign of disease. Symptomatic individuals have dyspnea on exertion, chest pain, presyncope, or syncope Syncope Syncope is a short-term loss of consciousness and loss of postural stability followed by spontaneous return of consciousness to the previous neurologic baseline without the need for resuscitation. The condition is caused by transient interruption of cerebral blood flow that may be benign or related to a underlying life-threatening condition. Syncope. Diagnosis is made via ECG ECG An electrocardiogram (ECG) is a graphic representation of the electrical activity of the heart plotted against time. Adhesive electrodes are affixed to the skin surface allowing measurement of cardiac impulses from many angles. The ECG provides 3-dimensional information about the conduction system of the heart, the myocardium, and other cardiac structures. Normal Electrocardiogram (ECG), echocardiography, stress testing, and cardiac MRI. Treatment for symptomatic individuals involves beta-blockers as first-line therapy with additional management depending on the presence of arrhythmia and left ventricular outflow tract obstruction.

References

  1. Dilated cardiomyopathy Dilated Cardiomyopathy Dilated cardiomyopathy (DCM) is the most common type of non-ischemic cardiomyopathy and a common cause of heart failure (HF). The cause may be idiopathic, familial, or secondary to a variety of underlying conditions. The disease is characterized by the enlargement of 1 or both ventricles and reduced systolic function. Dilated Cardiomyopathy. (2021). Medline Plus. Retrieved February 5, 2021, from https://medlineplus.gov/ency/article/000168.htm
  2. Angelini A, Calzolari V, Thiene G, et al. (1997). Morphologic spectrum of primary restrictive cardiomyopathy. Am J Cardiol 80(8):1046–50. https://pubmed.ncbi.nlm.nih.gov/9352976/ 
  3. Fitzpatrick AP, Shapiro LM, Rickards AF, Poole-Wilson PA. (1990). Familial restrictive cardiomyopathy with atrioventricular block Atrioventricular block Atrioventricular (AV) block is a bradyarrhythmia caused by delay, or interruption, in the electrical conduction between the atria and the ventricles. Atrioventricular block occurs due to either anatomic or functional impairment, and is classified into 3 types. Atrioventricular Block and skeletal myopathy. Br Heart J 63(2):114–8. https://pubmed.ncbi.nlm.nih.gov/2317404/ 
  4. Kushwaha SS, Fallon JT, Fuster V. (1997). Restrictive cardiomyopathy. N Engl J Med. https://pubmed.ncbi.nlm.nih.gov/8995091/ 
  5. Benotti JR, Grossman W, Cohn PF. (1980). Clinical profile of restrictive cardiomyopathy. Circulation. https://pubmed.ncbi.nlm.nih.gov/6445242/
  6. Ammash NM, Seward JB, Bailey KR, Edwards WD, Tajik AJ. (2000). Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation. https://pubmed.ncbi.nlm.nih.gov/10831523/

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