Pediatric Hypertrophic Cardiomyopathy Differential Diagnoses

  • Author: Christina Y Miyake, MD; more...
 
Updated: Nov 4, 2011
 
 

Diagnostic Considerations

Children with hypertrophic cardiomyopathy (HCM) may not be symptomatic. Careful evaluation of a heart murmur may reveal HCM.

Early diagnosis of HCM is of prime importance if sudden cardiac death is to be prevented by prescription of an appropriate level of safe activity, medications, surgery, or an implantable cardioverter defibrillator. Because this is an autosomal dominantly inherited disease, screening of first-degree relatives with physical examination, electrocardiography (ECG), and echocardiography is useful to identify additional family members with HCM before the onset of significant symptoms or sudden death.

Syncope identifies children with HCM who are at significantly increased risk of sudden death and warrants an urgent evaluation. Like syncope, presyncope warrants a directed evaluation to rule out malignant arrhythmias. A thorough investigation is warranted to rule out potential malignant etiology of presyncopal symptoms.

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Christina Y Miyake, MD  Consulting Staff, Pediatric Cardiology, Lucile Packard Children's Hospital at Stanford

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 Congenital Electrophysiology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Charles I Berul, MD  Professor of Pediatrics and Integrative Systems Biology, 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 Congenital Electrophysiology Society, and Society for Pediatric Research

Disclosure: Johnson & Johnson Consulting fee Consulting

Additional Contributors

Christopher Johnsrude, MD, MS Chief, Division of Pediatric Cardiology, University of Louisville School of Medicine; Director, Congenital Heart Center, Kosair Children's Hospital

Christopher Johnsrude, MD, MS is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology

Disclosure: St Jude Medical Honoraria Speaking and teaching

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.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

References
  1. Semsarian C, Ahmad I, Giewat M, Georgakopoulos D, Schmitt JP, McConnell BK, et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest. Apr 2002;109(8):1013-20. [Medline]. [Full Text].

  2. Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. Nov 16 1989;321(20):1372-8. [Medline].

  3. [Best Evidence] Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. Feb 13 2007;115(6):773-81. [Medline].

  4. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA 3rd, Freedman RA, Gettes LS, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices) developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. J Am Coll Cardiol. May 27 2008;51(21):e1-62. [Medline].

  5. Almquist AK, Montgomery JV, Haas TS, Maron BJ. Cardioverter-defibrillator implantation in high-risk patients with hypertrophic cardiomyopathy. Heart Rhythm. Aug 2005;2(8):814-9. [Medline].

  6. Berul CI, Van Hare GF, Kertesz NJ, Dubin AM, Cecchin F, Collins KK, et al. Results of a multicenter retrospective implantable cardioverter-defibrillator registry of pediatric and congenital heart disease patients. J Am Coll Cardiol. Apr 29 2008;51(17):1685-91. [Medline].

  7. Kaski JP, Tome Esteban MT, Lowe M, et al. Outcomes after implantable cardioverter-defibrillator treatment in children with hypertrophic cardiomyopathy. Heart. 2007;93(3):[Medline]. [Full Text].

  8. Maron BJ, Spirito P, Shen WK, Haas TS, Formisano F, Link MS, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA. Jul 25 2007;298(4):405-12. [Medline].

  9. Sorajja P, Valeti U, Nishimura RA, Ommen SR, Rihal CS, Gersh BJ, et al. Outcome of alcohol septal ablation for obstructive hypertrophic cardiomyopathy. Circulation. Jul 8 2008;118(2):131-9. [Medline].

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Hypertrophic cardiomyopathy. Image courtesy of Michael E. Zevitz, MD
Sarcomeric genes involved in hypertrophic cardiomyopathy (adapted from Priori 1999).
ECG of a 16-year-old with hypertrophic cardiomyopathy (HCM), demonstrating left ventricular hypertrophy pattern and "pseudo-preexcitation."
 
 
 
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