eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Cardiomyopathy, Restrictive

Author: Kimberly Y Lin, MD, Pediatric Cardiology, Children's Hospital of Philadelphia
Coauthor(s): Robert E Shaddy, MD, Professor of Pediatrics, University of Pennsylvania School of Medicine; Division Chief of Pediatric Cardiology, Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Jul 15, 2009

Introduction

Background

Restrictive cardiomyopathy (RCM) is a rare disorder in children that is characterized by restrictive filling and reduced diastolic volume of one or both ventricles with normal or near-normal systolic function and wall thickness.1  The heart is structurally normal, although histologic abnormalities are often present, depending on the etiology of the restrictive cardiomyopathy.

Echocardiographic 4-chamber view of a child with ...

Echocardiographic 4-chamber view of a child with restrictive cardiomyopathy demonstrating characteristic marked enlargement of right atrium (RA) and left atrium (LA), which are larger than left ventricle (LV).

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Echocardiographic 4-chamber view of a child with ...

Echocardiographic 4-chamber view of a child with restrictive cardiomyopathy demonstrating characteristic marked enlargement of right atrium (RA) and left atrium (LA), which are larger than left ventricle (LV).

Restrictive cardiomyopathy may manifest as a solitary abnormality, although restrictive filling patterns of the left ventricle can be seen in patients with dilated or hypertrophic cardiomyopathy. Because this disease is so rare, its pathogenesis, natural history, and treatment are not well defined. 

Some investigators have divided restrictive cardiomyopathy into the following subtypes: (1) pure restrictive form, (2) hypertrophic-restrictive form, and (3) mildly dilated restrictive form.2

Pathophysiology

The pathophysiology is diverse. Restrictive cardiomyopathy can be associated with diseases such as amyloidosis, hemosiderosis, hypereosinophilia, and endocardial fibroelastosis; it can also occur secondary to radiation therapy and certain medications. However, these may be considered separate diseases because the etiology is known.

In true idiopathic restrictive cardiomyopathy, pathologic specimens have shown myocyte hypertrophy, myofibrillar disarray, and increased interstitial connective tissue.2 Endomyocardial biopsy findings are usually abnormal, although findings may not be diagnostic for any one disease. Findings include myocyte hypertrophy, interstitial fibrosis, and myocytolysis.3

The physiological consequences of restrictive cardiomyopathy are more uniform than those of its diverse etiologies. Physiology is typically characterized by an abrupt premature cessation of ventricular filling in early diastole, causing a dip-plateau pattern on ventricular pressure tracing. Therefore, ventricular filling is limited to early diastole. This ultimately results in decreased compliance of the ventricle with development of atrial dilation. Typical hemodynamic characteristics include normal systolic function and equalization of increased ventricular end-diastolic pressures.

Morphologic findings include atrial enlargement without increased ventricular wall thickness or ventricular cavity dilation, the absence of eosinophilic infiltration, and the absence of pericardial disease.2

The natural history varies and at least partially depends on the etiology of the restrictive cardiomyopathy, if any is identified. Because the number of patients that have subclinical restrictive cardiomyopathy is unknown, the natural history can be determined only when symptoms develop. Once symptoms develop, the morbidity and mortality are high (see Morbidity/Mortality).

Frequency

United States

Although exact prevalence is unknown, restrictive cardiomyopathy is the least common cardiomyopathy and represents approximately 2-5% of pediatric cardiomyopathies.4,5,6

International

Reports from Europe and Australia suggest similar international infrequency.7,8  However, in tropical areas of Africa, Asia, and South America where endomyocardial fibrosis is endemic, the prevalance may be much higher.9,10

Mortality/Morbidity

Mortality rates in children with idiopathic restrictive cardiomyopathy are high, particularly in the absence of heart transplantation. Rates have been reported to be as high as 63% within 3 years of diagnosis and 75% within 6 years of diagnosis.4 Actuarial survival range is 44-50% at 1-2 years after presentation.4,11 This decreases to 29-39% at 3-5 years after presentation.6,11

Race

No racial predilection is known.

Sex

Some studies suggest that idiopathic restrictive cardiomyopathy may be slightly more common in girls than in boys.12,11

Age

Idiopathic restrictive cardiomyopathy has been described in children of all ages.

Clinical

History

  • Reasons for referral in restrictive cardiomyopathy (RCM)
    • Abnormal chest radiography findings during a respiratory illness
    • Abnormal physical findings (see Physical)
    • Syncope
    • Positive family history
  • Respiratory symptoms
    • Dyspnea with exertion or at rest
    • Paroxysmal nocturnal dyspnea
    • Orthopnea
    • Peripheral edema
    • Ascites
    • General fatigue and weakness
    • Typical history of congestive heart failure

Physical

  • Findings usually reflect the degree of congestion from the diastolic dysfunction of the affected ventricle and the resultant degree of decreased cardiac output. In patients who are only mildly affected, physical examination findings may be normal. However, patients with significant left ventricular restrictive cardiomyopathy have pulmonary venous congestion with tachypnea. Older patients in this category occasionally present with crackles.
  • Murmurs and gallop rhythms are common. Evidence of right-sided congestion (manifested as hepatomegaly and/or jugular venous distention) is usually present, either because of right-sided restrictive cardiomyopathy or as a secondary congestion from left-sided restrictive cardiomyopathy. Sometimes, the jugular venous pulse fails to fall during inspiration and may actually rise (Kussmaul sign).
  • In more severe forms, patients can present with peripheral edema or ascites and frank congestive heart failure.
  • Arrhythmias may occur in restrictive cardiomyopathy, including atrial fibrillation, flutter, and ventricular tachycardia. In some infiltrative forms of restrictive cardiomyopathy, complete heart block may also be present.13

Causes

  • The etiology is unknown in most pediatric cases.
  • Restrictive cardiomyopathy can be divided into myocardial or endomyocardial types. The myocardial forms can be further classified as noninfiltrative or infiltrative types.
  • Noninfiltrative myocardial types include the following:
    • Idiopathic (the most common etiology of restrictive cardiomyopathy in children)
    • Familial
    • Post–cardiac transplant
    • Diabetic cardiomyopathy with a restrictive component
  • Infiltrative myocardial diseases include the following:
    • Amyloidosis (the most common cause of RCM in adults outside of the tropics)14
    • Sarcoidosis
    • Rare congenital diseases, such as Gaucher disease, Hurler disease, and glycogen storage diseases
  • Endomyocardial causes of restrictive cardiomyopathy include the following:
    • Endomyocardial fibrosis (the most common cause of restrictive cardiomyopathy in adults and children in certain tropical areas of Africa, Asia, and South America)15
    • Hypereosinophilic syndrome (also known as Loeffler endocarditis)
    • Carcinoid heart disease
    • Metastatic cancers
    • Pseudoxanthoma elasticum
    • Certain drugs, including anthracyclines and methylsergide
    • Mediastinal radiation
  • Most cases of restrictive cardiomyopathy (including idiopathic) are not known to be inherited. However, some inherited infiltrative disorders can cause restrictive cardiomyopathy. These include Fabry disease (X-linked recessive), Gaucher disease (autosomal recessive), glycogen storage diseases, and autosomal recessive hemochromatosis.
  • Risk factors for restrictive cardiomyopathy are unknown.
  • Associated syndromes and noncardiac conditions include scleroderma, amyloidosis, sarcoidosis, Gaucher disease, Hurler disease, glycogen storage diseases, hypereosinophilic syndrome, and carcinoid syndrome.
  • Significant progress has been made in defining the genetic causes of restrictive cardiomyopathy. These causes include mutations in the following genes: troponin I, troponin T, alpha-cardiac actin, myosin, and desmin.16,17,18,19,20,21,22  Genetic mutations have also been identified in several of diseases associated with restrictive cardiomyopathy, including lamin A/C in Emery-Dreifuss muscular dystrophy, transthyretin in amyloidosis, and RSK2 in Coffin-Lowry syndrome.23,24,25

More on Cardiomyopathy, Restrictive

Overview: Cardiomyopathy, Restrictive
Differential Diagnoses & Workup: Cardiomyopathy, Restrictive
Treatment & Medication: Cardiomyopathy, Restrictive
Follow-up: Cardiomyopathy, Restrictive
Multimedia: Cardiomyopathy, Restrictive
References
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References

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Further Reading

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Keywords

restrictive cardiomyopathy, RCM, restriction of diastolic filling, dyspnea, right ventricular failure, idiopathic RCM, familial RCM, myocardial RCM, endomyocardial RCM, hypertrophic cardiomyopathy, diabetic cardiomyopathy with a restrictive component, amyloidosis, sarcoidosis, Gaucher disease, Gaucher's disease, Hurler disease, Hurler's disease, glycogen storage disease, amyloidosis, endomyocardial fibrosis, endocardial fibroelastosis, paroxysmal nocturnal dyspnea, orthopnea, peripheral edema, ascites, congestive heart failure, tachypnea, sarcoidosis, carcinoid syndrome, treatment, diagnosis

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Contributor Information and Disclosures

Author

Kimberly Y Lin, MD, Pediatric Cardiology, Children's Hospital of Philadelphia
Kimberly Y Lin, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Physicians, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Robert E Shaddy, MD, Professor of Pediatrics, University of Pennsylvania School of Medicine; Division Chief of Pediatric Cardiology, Children's Hospital of Philadelphia
Robert E Shaddy, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, International Society for Heart and Lung Transplantation, Phi Beta Kappa, Society for Pediatric Research, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Jeffrey Allen Towbin, MD, MSc, FAAP, FACC, FAHA, Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital
Jeffrey Allen Towbin, MD, MSc, FAAP, FACC, FAHA is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, Cardiac Electrophysiology Society, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, and Texas Pediatric Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Ameeta Martin, MD, Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine
Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology
Disclosure: Nothing to disclose.

CME Editor

Gilbert Z Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center
Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD, Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin
Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

 
 
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