Restrictive cardiomyopathy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Infiltrative cardiomyopathy; RCM; stiff heart; stiffening of the heart; heart stiffening; stiffened heart

Overview

Historical Perspective

Classification

• There is no established system for the classification of restrictive cardiomyopathy
• It may be classified into:
• Primary
  • EMF(endomyocardial fibrosis)
  • Löffler’s endocarditis
  • Idiopathic restrictive cardiomyopathy
• Secondary
  • Infiltrative diseases(e.g., amyloidosis, sarcoidosis, and radiation carditis)
  • Storage diseases (e.g., hemochromatosis, glycogen storage disorders, and Fabry’s disease)

Pathophysiology

Pathogenesis

• The exact pathogenesis of restrictive cardiomyopathy is not completely understood.
• Mainly characterized by impaired ventricular filling and reduced diastolic volume of one or both ventricles, with either normal or near-normal systolic function.
• Hemodynamic abnormalities constitute the main pathological aspect of restrictive cardiomyopathy.
• The primary abnormality of restrictive cardiomyopathy is impaired myocardial relaxation along with interstitial fibrosis as well as calcifications.
• Restrictive filling can been seen which is due to higher diastolic pressure.

Genetics

Genes involved in the pathogenesis of restrictive cardiomyopathy include:

• Cardiac genes for desmin, α-actin, troponin I and troponin T.
• Missense mutation (D190H) in the region of the cTnI gene (TNNI3).
• De novo mutations (R192H and K178E) in the TNNI3 gene.
• Mutations in the α-cardiac actin (ACTC), β-myosin heavy chain (β-MHC), and cTnT (TNNT2) genes have been noticed to have etiological causes of restrictive cardiomyopathy.

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

https://commons.wikimedia.org/wiki/File:Cardiac_amyloidosis_very_high_mag_he.jpg

Causes

The main Causes of restrictive cardiomyopathy are enlisted below:

• Amyloidosis (AL, ATTR, SSA)
• Sarcoidosis
• Hemochromatosis
• Eosinophilic myocardial disease
• Idiopathic RCM
• Progressive systemic sclerosis (scleroderma)
• Postradiation therapy (Hodgkin's lymphoma, breast cancer etc)
• Anderson Fabry disease
• Danon's disease
• Friedreich's ataxia
• Diabetic cardiomyopathy (restrictive phenotype)
• Drug induced (anthracycline toxicity, methysergide, ergotamine, mercurial agents, etc.)
• Mucopolysaccharidoses (Hurler's cardiomyopathy)
• Myocardial oxalosis
• Wegener's granulomatosis
• Metastatic malignancies

Differentiating restrictive cardiomyopathy from Other Diseases

Restrictive cardiomyopathy should be differentiated from dilated cardiomyopathy, hypertrophic cardiomyopathy, congestive heart failure ect ,

Differentiating restrictive cardiomyopathy from Other Diseases

Type of disease	History	Physical examination	Chest X-ray	ECG	2D echo	Doppler echo	CT	MRI	Catheterization hemodynamics	Biopsy
Restrictive cardiomyopathy	Systemic disease (e.g., sarcoidosis, hemochromatosis).	± Kussmaul sign S3 and S4 gallops, murmurs of mitral and tricuspid regurgitation	Atrial dilatation	Low QRS voltages (mainly amyloidosis), conduction disturbances, nonspecific ST abnormalities	± Wall and valvular thickening, sparkling myocardium	Decreased variation in mitral and/or tricuspid inflow E velocity, increased hepatic vein inspiratory diastolic flow reversal, presence of mitral and tricuspid regurgitation	Normal pericardium	Measurement of iron overload, various types of LGE (late gadolinium enhancement)	LVEDP – RVEDP ≥ 5 mmHg RVSP ≥ 55 mmHg RVEDP/RVSP ≤ 0.33	May reveal underlying cause.
Constrictive pericarditis	Prior history of pericarditis or conditions affecting the pericardium.	Pericardial knock	Pericardial calcification	Nonspecific ST and T abnormalities, low QRS voltage (<50%)	± Pericardial thickening, respiratory ventricular septal shift.	Increased variation in mitral and/or tricuspid inflow E velocity, hepatic vein expiratory diastolic reversal ratio ≥ 0.79 medial e′/lateral e′ ≥ 0.91 (Annulus Reversus)	Thickened/calcified pericardium	Thickened pericardium	LVEDP – RVEDP < 5 mmHg RVSP < 55 mmHg RVEDP/RVSP > 0.33 Inspiratory decrease in RAP < 5 mmHg Systolic area index > 1.1 (Ref CP in the modern era) Left ventricular height of rapid filling wave > 7 mmHg	Normal myocardium
Hypertrophic cardiomyopathy(HCM)	Commonly asymptomatic/minimally symptomatic. Exertional dyspnea or syncope.	In LVOT obstruction, a harsh, mid-systolic, Grade 3–4/6 murmur loudest between the apex and the left sternal border is usually audible. Precordial impulse is forceful and displaced leftward and the peripheral arterial pulses are brisk.		Voltage changes of LVH, ST-T wave changes, T-wave inversions Pathological deep Q waves Complete bundle branch block	Left ventricular asymmetric hypertrophy Left ventricular diastolic dysfunction SAM (systolic anterior motion) of the mitral leaflet.					Enlarged cardiac myocytes in disarray, fibrotic replacement of the myocardium β-myosin heavy chain and myosin-binding protein C genes
Dilated Cardiomyopathy	Alcohol, HIV, Cocaine, CAD	Lateral displacement of the point of maximal impulse (PMI) Right ventricular heave S3 S4 S3 Gallops	Enlarged left ventricle and atria Pulmonary edema Associated pleural effusions.	T wave and ST segment changes to septal pathological Q waves Wide QRS complex	LV dilation with diffuse hypokinetic walls	Functional MR and TR and a different degree of diastolic dysfunction			Increased LVEDP, pulmonary artery wedge pressure. Left ventriculography may show ventricular dilation with global hypokinesis

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

• The majority of patients with [disease name] are asymptomatic.

OR

• The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
• Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. 

History

Patients with [disease name]] may have a positive history of:

• [History finding 1]
• [History finding 2]
• [History finding 3]

Common Symptoms

Common symptoms of [disease] include:

• Dyspnea
• Fatigue
• Limited exercise capacity
• Palpitations
• Syncope

Less Common Symptoms

Less common symptoms of restrictive cardiomyopathy include

• Angina

Physical Examination

Physical examination of patients with restrictive cardiomyopathy is usually abnormal with characteristic findings in cardiovascular and pulmonary systems.

Appearance of the Patient

• Patients with restrictive cardiomyopathy usually appear normal.

Vital Signs

• High-grade / low-grade fever
• Hypothermia / hyperthermia may be present
• Tachycardia with regular pulse or (ir)regularly irregular pulse
• Bradycardia with regular pulse or (ir)regularly irregular pulse
• Tachypnea / bradypnea
• Kussmal respirations may be present in _____ (advanced disease state)
• Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
• High/low blood pressure with normal pulse pressure / wide pulse pressure / narrow pulse pressure

Skin

• Skin examination of patients with restrictive cardiomyopathy is usually normal.

HEENT

• HEENT examination of patients with restrictive cardiomyopathy is usually normal.

Neck

• Jugular venous distension is noted sometimes with kussmaul sign
• Hepatojugular reflux

Lungs

• Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally
• Rhonchi

Heart

• S1
• S2
• S3
• S4
• Gallops

Abdomen

• Hepatomegaly

Back

• Back examination of patients with restrictive cardiomyopathy is usually normal.

Genitourinary

• Genitourinary examination of patients with restrictive cardiomyopathy is usually normal.

Neuromuscular

• Neuromuscular examination of patients with restrictive cardiomyopathy is usually normal.

Extremities

• Peripheral edema of the lower extremities

Laboratory Findings

• The laboratory findings depends on the cause of the cardiomyopathy.
• Hematocrit (HCT), serum electrolytes, blood urea nitrogen (BUN), creatinine, 24 hr urine total protein, and liver function should be assessed.
• Arterial blood gas (ABG) should also be obtained to monitor hypoxia.
• Serum brain natriuretic peptide (BNP) or N-terminal pro-b-type natriuretic peptide (NT-proBNP) and troponin T are indicative of the heart failure and in many cases they are predictors of survival.
• Other Specific labs will depend upon the cause (angiotensin converting enzyme (ACE) in sarcoidosis, complete blood count (CBC) with peripheral smear helping to establish eosinophilia in hypereosinophilic syndromes, serum iron concentrations, total iron-binding capacity and ferritin levels in hemocromatosis, immunoglobulin free light κ, λ chain testing, and serum and urine immunofixation in amyloidosis, etc.

Electrocardiogram

Shown below is an example of restrictive cardiomyopathy with low voltage and flipped anterior T waves.

X-ray

Echocardiography and Ultrasound

Echocardiography/ultrasound may be helpful in the diagnosis of restrictive cardiomyopathy. Findings on an echocardiography suggestive of/diagnostic of restrictive cardiomyopathy include:

• Normal or increased wall thickness
• Transmitral spectral Doppler often shows restrictive filling pattern.
• Marked left or biatrial dilatation usually as a consequence of chronically elevated filling pressures.
• Ejection fraction (EF) is normal or near normal.
• The main purpose of echo is the differential diagnosis between constrictive pericarditis(CP) and resrictive cardiomyopathy(RCM).
• Both present as heart failure with normal-sized ventricles and preserved EF, dilated atria, and Doppler findings of increased filling pressure often seen in restrictive cardiomyopathy.

CT scan

MRI

• Magnetic Resonance imaging and late gadolinium enhancement (LGE) is very helpful in providing information about anatomic structures, perfusion, ventricular function, as well as tissue characterization.
• Late gadolinium enhancement (LGE) depending on the pattern of scar formation can direct the physician in establishing the diagnosis to specific subtypes of restrictive cardiomyopathy(RCM).
• MRI can also quantify the myocardial iron load in patients with haemochromatosis or thalassemia who receive transfusions.

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

References

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Overview

Restrictive cardiomyopathy is the least common cardiomyopathy. It is called this because it restricts the heart from stretching and filling with blood properly. Rhythmicity and contractility of the heart may be normal, but the stiff walls of the heart chambers (atria and ventricles) keep them from adequately filling. So blood flow is reduced, and blood that would normally enter the heart is backed up in the circulatory system. In time, restrictive cardiomyopathy patients develop heart failure.

Causes

Life Threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no known life threatening causes of restrictive cardiomyopathy that may result in death within 24 hours if not treated.

Common Causes

• Amyloidosis
• Chemotherapy
• Heart transplant
• Hemochromatosis
• Postirradiation fibrosis
• Sarcoidosis

Causes by Organ System

Cardiovascular	Amyloidosis, carcinoid heart disease, cardiac amyloidosis, endocardial fibroelastosis, endomyocardial fibrosis, heart transplant, hemochromatosis, Hurler syndrome, Noonan's syndrome
Chemical/Poisoning	Mercurial agents
Dental	No underlying causes
Dermatologic	Scleroderma, systemic sclerosis
Drug Side Effect	Anthracyclines, busulfan, chemotherapy, drugs, ergotamine, hydroxychloroquine, methysergide, serotonin
Ear Nose Throat	No underlying causes
Endocrine	Amyloidosis, carcinoid syndrome, carcinoid tumors, diabetes mellitus, carcinoid heart disease, hemochromatosis
Environmental	No underlying causes
Gastroenterologic	Alpha-L-iduronidase deficiency, glycogen storage disease, hemochromatosis, Hurler syndrome, sarcoidosis, carcinoid heart disease, carcinoid syndrome, scleroderma, systemic sclerosis
Genetic	Alpha-L-iduronidase deficiency, Anderson-Fabry disease, cystinosis, desminopathy, Fabry's disease, familial, Gaucher's disease, hemochromatosis, Hurler syndrome, mucopolysaccharidosis, Noonan's syndrome, pseudoxanthoma elasticum, sarcomeric protein mutations, Werner's syndrome
Hematologic	Carcinoid heart disease, carcinoid syndrome, carcinoid tumors, Gaucher's disease, hemochromatosis, hypereosinophilic syndrome
Iatrogenic	Postirradiation fibrosis, radiation
Infectious Disease	Loeffler's syndrome
Musculoskeletal/Orthopedic	Hemochromatosis, scleroderma, systemic sclerosis
Neurologic	No underlying causes
Nutritional/Metabolic	Alpha-L-iduronidase deficiency, amyloidosis, Anderson-Fabry disease, cystinosis, Fabry's disease, fatty infiltration, Gaucher's disease, generalized gangliosidosis GM1, glycogen storage disease, Hurler syndrome, I-cell disease, mucolipidosis II alpha/beta, mucopolysaccharidosis
Obstetric/Gynecologic	No underlying causes
Oncologic	Carcinoid heart disease, carcinoid syndrome, carcinoid tumors, hypereosinophilic syndrome, lymphoma, malignancy, metastatic cancers, paraneoplastic syndrome
Ophthalmologic	No underlying causes
Overdose/Toxicity	No underlying causes
Psychiatric	Hurler syndrome
Pulmonary	Churg-Strauss syndrome, Loeffler's syndrome, sarcoidosis, scleroderma, systemic sclerosis
Renal/Electrolyte	Scleroderma, systemic sclerosis
Rheumatology/Immunology/Allergy	Amyloidosis, cardiac amyloidosis, Churg-Strauss syndrome, Loeffler's syndrome, paraneoplastic syndrome, reactive arthritis, sarcoidosis, scleroderma, systemic sclerosis
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	No underlying causes
Miscellaneous	Idiopathic

Causes in Alphabetical Order

• Alpha-L-iduronidase deficiency
• Amyloidosis
• Anderson-Fabry disease
• Anthracyclines
• Busulfan
• Carcinoid heart disease
• Carcinoid syndrome
• Carcinoid tumors
• Cardiac amyloidosis
• Chemotherapy
• Churg-Strauss syndrome
• Cystinosis
• Desminopathy
• Diabetes mellitus
• Drugs
• Endocardial fibroelastosis
• Endomyocardial fibrosis
• Ergotamine
• Fabry's disease
• Familial
• Fatty infiltration
• Gaucher's disease
• Generalized gangliosidosis GM1
• Glycogen storage disease
• Heart transplant
• Hemochromatosis

• Hurler syndrome
• Hydroxychloroquine
• Hypereosinophilic syndrome
• I-cell disease
• Idiopathic
• Loeffler's syndrome
• Lymphoma
• Malignancy
• Mercurial agents
• Metastatic cancers
• Methysergide
• Mucolipidosis II alpha/beta
• Mucopolysaccharidosis
• Noonan's syndrome
• Paraneoplastic syndrome
• Postirradiation fibrosis
• Pseudoxanthoma elasticum
• Radiation
• Reactive arthritis
• Sarcoidosis
• Sarcomeric protein mutations
• Scleroderma
• Serotonin
• Systemic sclerosis
• Werner's syndrome

Diagnosis

Electrocardiogram

Shown below is an example of restrictive cardiomyopathy with low voltage and flipped anterior T waves.

References

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