Hypertrophic cardiomyopathy screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S. [2] Soroush Seifirad, M.D.[3]

Overview

Genetic testing is the diagnostic study of choice to definitively diagnose hypertrophic cardiomyopathy. While definitive, these techniques can be expensive and can be difficult to access. If the mutation has already been identified in other family members, it is fairly efficient to test for that isolated mutation. Once HCM has been identified in a family, immediate testing of all family members will help to identify those at risk.

Screening Methods if Genetic Testing is Not Available

Absent the availability of genetic testing, clinical screening should be conducted using the history, physical exam, the electrocardiogram and the echocardiogram in adolescent patients aged 12 to 18 who are first degree relatives of patients with a confirmed diagnosis of hypertrophic cardiomyopathy. Because HCM can have a delayed age of onset, individuals over the age of 18 with an affected first degree relative should have screening every 5 years. Unless the child is engaged in extremely competitive sports or has an aggressive family history of HCM with premature death, screening is generally not recommended in children under the age of 12.

Screening of Competitive Athletes for Hypertrophic Cardiomyopathy

Screening for hypertrophic cardiomyopathy(HCM) is a controversial subject in the medical community, as HCM is the leading cause of sudden death in athletes.

Family History

The AHA/ACC guidelines recommend that a family history should be obtained in athletes to ascertain if there is a history of sudden death or if HCM is present in any family members.

Physical Examination

If the family history is positive, then a physical examination and echocardiography should be performed.

Yield of Aggressive Testing: The Italian Experience

  • In Italy, all competitive athletes are required to undergo pre-participation screening for the presence of HCM.
  • Over 3 million competitive athletes are evaluated each year, and athletes judged to be free of cardiovascular disease receive a certificate enabling them to participate in competitive athletics.
  • In a study done in Italy over a 9-year period (1990-1998), 41 of the 4450 athletes screened on echocardiography showed LV hypertrophy, with an increased wall thicknesses. Only four athletes demonstrated a maximal LV wall thickness of 13 mm or more. Thus, the yield of echocardiographic screening appears to be low.

Follow-Up of Patients with diagnosed HOCM

These patients are re-evaluated every 12 to 18 months.

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy (DO NOT EDIT)[1]

Genetic Testing Strategies/Family Screening (DO NOT EDIT) [1]

Class I
''1. Evaluation of familial inheritance and genetic counseling is recommended as part of the assessment of patients with HCM.[2][3][4][5][6][7] (Level of Evidence: B)''
''2. Patients who undergo genetic testing should also undergo counseling by someone knowledgeable in the genetics of cardiovascular disease so that results and their clinical significance can be appropriately reviewed with the patient.[8][9][10][11][12] (Level of Evidence: B)''
''3. Screening (clinical, with or without genetic testing) is recommended in first-degree relatives of patients with HCM.[2][3][4][5][7][13][14] (Level of Evidence: B)''
''4. Genetic testing for HCM and other genetic causes of unexplained cardiac hypertrophy is recommended in patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause.[15][16][17] (Level of Evidence: B)''
Class IIa
''1. Genetic testing is reasonable in the index patient to facilitate the identification of first-degree family members at risk for developing HCM.[2][6][13] (Level of Evidence: B)''
Class IIb
''1. The usefulness of genetic testing in the assessment of risk of SCD in HCM is uncertain.[18][19] (Level of Evidence: B)''
Class III (No Benefit)
''1. Genetic testing is not indicated in relatives when the index patient does not have a definitive pathogenic mutation.[2][3][4][5][6][7][20] (Level of Evidence: B)''
''2. Ongoing clinical screening is not indicated in genotype-negative relatives in families with HCM.[20][21][22][23] (Level of Evidence: B)''

Genotype-Positive/Phenotype-Negative Patients (DO NOT EDIT) [1]

Class I
"1. In individuals with pathogenic mutations who do not express the HCM phenotype, it is recommended to perform serial electrocardiogram (ECG), transthoracic echocardiogram (TTE), and clinical assessment at periodic intervals (12 to 18 months in children and adolescents and about every 5 years in adults), based on the patient’s age and change in clinical status.[24][25][26][27] (Level of Evidence: B)"

Sources

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy [28][1]

References

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  28. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW (2011). "2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Journal of the American College of Cardiology. 58 (25): 2703–38. doi:10.1016/j.jacc.2011.10.825. PMID 22075468. Retrieved 2011-12-19. Unknown parameter |month= ignored (help)<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>


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