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

Cardiomyopathy, Hypertrophic: Differential Diagnoses & Workup

Author: Charles I Berul, MD, Professor of Pediatrics, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center
Coauthor(s): Christina Y Miyake, MD, Senior Fellow in Electrophysiology and Pacing, Children's Hospital Boston
Contributor Information and Disclosures

Updated: Aug 25, 2009

Differential Diagnoses

Aortic Stenosis, Subaortic
Glycogen-Storage Disease Type II
Cardiomyopathy, Restrictive
Infant of Diabetic Mother
Fabry Disease
Neonatal Hypertension
Glycogen-Storage Disease Type I
Ventricular Fibrillation

Workup

Laboratory Studies

  • Children with a clinical diagnosis of ventricular hypertrophy should undergo appropriate laboratory evaluation to rule out other etiologies of hypertrophic cardiomyopathy (HCM).
  • No specific laboratory testing is required in patients diagnosed with hypertrophic cardiomyopathy; however genetic testing should be considered and is currently available for 8 sarcomeric genes including MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC, MYL2, and MYL3. Approximately 50-80% of patients have positive results. If the genotype of the proband is determined, mutation testing is available and should be used to identify additional family members with hypertrophic cardiomyopathy. Genetic testing is now also available for the storage disorders with ventricular hypertrophy.

Imaging Studies

  • Two-dimensional echocardiography is the main diagnostic tool for evaluating patients with suspected hypertrophic cardiomyopathy.
    • The septum in individuals with hypertrophic cardiomyopathy is relatively thicker than the posterior wall. The left ventricular (LV) diameter is at the lower limit of normal or smaller than normal. The left atrium may be enlarged due to LV noncompliance.
    • Doppler echocardiography can be used to reveal an elevated flow velocity across the LV outflow tract. Systolic anterior motion (SAM) of the anterior mitral valve is one of the hallmarks of obstructive hypertrophic cardiomyopathy. the following explanations for SAM of the mitral valve have been offered:
      • The mitral valve is pushed against the septum because of its abnormal position in the outflow tract (ie, drag effect).
      • The mitral valve is drawn toward the septum because of the lower pressure that occurs as blood is ejected at high velocity through a narrowed outflow tract (ie, Venturi effect).
    • Systolic function in individuals with hypertrophic cardiomyopathy is typically normal or even supranormal. Diastolic dysfunction with decreased LV compliance is common and is independent of the presence or absence of outflow tract obstruction. Abnormalities in mitral inflow patterns and/or tissue Doppler tracings may reveal a mitral valve E/A ratio less than 1 (usually <0.8) and/or abnormal tissue Doppler E wave less than 10 cm/sec. Interestingly, patients who have positive genotype findings but negative phenotype findings appear to demonstrate abnormal tissue Doppler patterns, particularly abnormally low E wave velocities.
  • Chest radiography findings vary.      
    • Cardiac silhouette may range from normal to markedly increased.
    • Left atrial enlargement may be observed, especially if significant mitral regurgitation is present.
  • Cardiac MRI is helpful in identifying patients with fibrosis and as an adjunct evaluation of anatomy and outflow tract obstruction in patients with poor echocardiographic windows.
    • Areas of delayed enhancement on MRI correlate with areas of fibrosis and can be found in a subset of patients with hypertrophic cardiomyopathy. These patients may be at increased risk for arrhythmias including nonsustained ventricular tachycardia.
    • Findings of fibrosis may have implications for risk stratification for sudden cardiac death in this group of patients.

Other Tests

  • Electrocardiography
    • Common findings in individuals with hypertrophic cardiomyopathy include ST-T wave abnormalities and LV hypertrophy. Other findings observed on ECG include axis deviation (right or left), conduction abnormalities (ie, PR prolongation, bundle branch block), sinus bradycardia with ectopic atrial rhythm, and atrial enlargement. In a genetic syndrome due to mutations in AMP-activated PRKAG2, hypertrophic cardiomyopathy has been associated with inherited Wolff-Parkinson-White syndrome and conduction defects.
    • Uncommon findings include an abnormal and prominent Q wave in the anterior precordial and lateral limb leads, short PR interval with QRS suggestive of preexcitation, atrial fibrillation (poor prognostic sign), and P-wave abnormalities including left atrial enlargement.
  • Holter monitoring: Findings commonly include atrial and ventricular ectopy, sinus pauses, wandering atrial pacemaker, intermittent or variable AV block, and nonsustained atrial and/or ventricular arrhythmias.

Procedures

  • Cardiac catheterization
    • A diagnostic hemodynamic catheterization may be useful to determine the degree of outflow obstruction, diastolic characteristics of the LV, and ventricular as well as coronary arterial anatomy.
    • Transcatheter septal alcohol ablation to relieve the LV outflow obstruction has been performed as an alternative to surgical myomectomy in adults but is not commonly performed in children. The main drawbacks include the risk of inadvertent atrioventricular block and extension of the alcohol-induced infarct, leading to myocardial dysfunction or iatrogenic ventricular septal defects. Studies have demonstrated a higher rate of complications for alcohol septal ablation versus surgical myomectomy.4
  • Electrophysiology studies
    • A diagnostic electrophysiologic study may reveal conduction abnormalities, sinus node dysfunction, and the potential for inducible arrhythmias using programmed electrical stimulation. However, the prognostic correlation of inducible arrhythmias with spontaneous clinical arrhythmias or sudden death is not entirely clear.
    • Several studies have demonstrated a relationship between electrophysiologic study results and risk stratification, although others have not been able to demonstrate a direct relationship. Electrophysiology studies may also be used to identify a substrate that is amenable to catheter ablation, such as atrial flutter or ventricular tachycardia.

Histologic Findings

  • Myocardial hypertrophy and gross disorganization of the muscle bundles result in a characteristic whorled pattern; cell-to-cell disarray and disorganization of the myofibrillar architecture within a given cell occurs in almost all individuals with hypertrophic cardiomyopathy. 
  • Fibrosis is prominent and may be extensive enough to produce grossly visible scars. 
  • Abnormal intramural coronary arteries, with reduced lumen sizes and thickening of the vessel wall, are common, occurring in more than 80% of patients. This abnormality occurs most frequently in the ventricular septum and accompanies extensive fibrosis in the affected walls of the heart.

More on Cardiomyopathy, Hypertrophic

Overview: Cardiomyopathy, Hypertrophic
Differential Diagnoses & Workup: Cardiomyopathy, Hypertrophic
Treatment & Medication: Cardiomyopathy, Hypertrophic
Follow-up: Cardiomyopathy, Hypertrophic
Multimedia: Cardiomyopathy, Hypertrophic
References
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Further Reading

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Keywords

hypertrophic cardiomyopathy, hypertrophic obstructive cardiomyopathy, idiopathic hypertrophic subaortic stenosis, IHSS, muscular subaortic stenosis, asymmetric septal hypertrophy, ASH, HCM, ventricular hypertrophy, outflow tract obstruction, ventricular tachycardia, ventricular fibrillation, dyspnea, syncope, presyncope, angina, palpitations, orthopnea, paroxysmal nocturnal dyspnea, congestive heart failure, dizziness, atrial flutter, supraventricular tachycardia associated with Wolff-Parkinson-White syndrome, sick sinus syndrome, angina, Pompe disease, Barth syndrome, Friedrich ataxia, Duchenne muscular dystrophy, Noonan syndrome, Danon disease

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Contributor Information and Disclosures

Author

Charles I Berul, MD, Professor of Pediatrics, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center
Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Cardiac Electrophysiology Society, Heart Rhythm Society, Pediatric and Congential Electrophysiology Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Coauthor(s)

Christina Y Miyake, MD, Senior Fellow in Electrophysiology and Pacing, Children's Hospital Boston
Christina Y Miyake, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Massachusetts Medical Society, and Pediatric and Congential Electrophysiology Society
Disclosure: Nothing to disclose.

Medical Editor

Christopher Johnsrude, MD, Associate Professor of Pediatrics, Director of Electrophysiology, University of Louisville School of Medicine; Consulting Staff, Pediatric Cardiology Associates, PSC
Christopher Johnsrude, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology
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

Steven R Neish, MD, SM, Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine
Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association
Disclosure: Nothing to disclose.

 
 
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