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]

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.

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 obtined 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.
  • This screening consists of:
  • A 12-lead ECG
  • A general and cardiovascular physical examination, including blood pressure measurements
  • A family history
  • 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 HOCM.[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 HOCM.[2][3][4][5][7][13][14] (Level of Evidence: B)''
''4. Genetic testing for HOCM and other genetic causes of unexplained cardiac hypertrophy is recommended in patients with an atypical clinical presentation of HOCM or when another genetic condition is suspected to be the cause.[15][16][17] (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][18] (Level of Evidence: B)''
''2. Ongoing clinical screening is not indicated in genotype-negative relatives in families with HOCM.[18][19][20][21] (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 HOCM.[2][6][13] (Level of Evidence: B)''
Class IIb
''1. The usefulness of genetic testing in the assessment of risk of sudden cardiac death in HOCM is uncertain.[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 HOCM phenotype, it is recommended to perform serial electrocardiogram, 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

  1. ↑ 1.0 1.1 1.2 1.3 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 (December 2011). "2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy 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): e212–60. doi:10.1016/j.jacc.2011.06.011. PMID 22075469. Retrieved on 2011-12-19.
  2. ↑ 2.0 2.1 2.2 2.3 Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD (June 2002). "Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy". Circulation 105 (25): 2992–7. PMID 12081993. Retrieved on 2011-12-21.
  3. ↑ 3.0 3.1 3.2 Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG (January 2005). "Glycogen storage diseases presenting as hypertrophic cardiomyopathy". The New England Journal of Medicine 352 (4): 362–72. doi:10.1056/NEJMoa033349. PMID 15673802. Retrieved on 2011-12-21.
  4. ↑ 4.0 4.1 4.2 Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE (May 2008). "Shared genetic causes of cardiac hypertrophy in children and adults". The New England Journal of Medicine 358 (18): 1899–908. doi:10.1056/NEJMoa075463. PMID 18403758. Retrieved on 2011-12-21.
  5. ↑ 5.0 5.1 5.2 Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE (April 1998). "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy". The New England Journal of Medicine 338 (18): 1248–57. doi:10.1056/NEJM199804303381802. PMID 9562578. Retrieved on 2011-12-21.
  6. ↑ 6.0 6.1 6.2 Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ (December 2002). "Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy". Circulation 106 (24): 3085–90. PMID 12473556. Retrieved on 2011-12-21.
  7. ↑ 7.0 7.1 7.2 Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ (August 2004). "Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy". Journal of the American College of Cardiology 44 (3): 602–10. doi:10.1016/j.jacc.2004.04.039. PMID 15358028. Retrieved on 2011-12-21.
  8. ↑ Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (July 2009). "Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective". American Journal of Medical Genetics. Part a 149A (7): 1444–51. doi:10.1002/ajmg.a.32915. PMID 19533783. Retrieved on 2011-12-21.
  9. ↑ Michie S, French D, Allanson A, Bobrow M, Marteau TM (1997). "Information recall in genetic counselling: a pilot study of its assessment". Patient Education and Counseling 32 (1-2): 93–100. PMID 9355576. Retrieved on 2011-12-21.
  10. ↑ Michie S, Allanson A, Armstrong D, Weinman J, Bobrow M, Marteau TM (December 1998). "Objectives of genetic counselling: differing views of purchasers, providers and users". Journal of Public Health Medicine 20 (4): 404–8. PMID 9923946. Retrieved on 2011-12-21.
  11. ↑ Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA (September 2004). "The "duty to warn" a patient's family members about hereditary disease risks". JAMA : the Journal of the American Medical Association 292 (12): 1469–73. doi:10.1001/jama.292.12.1469. PMID 15383518. Retrieved on 2011-12-21.
  12. ↑ Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (February 2009). "Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study". American Journal of Medical Genetics. Part a 149A (4): 602–12. doi:10.1002/ajmg.a.32710. PMID 19253387. Retrieved on 2011-12-21.
  13. ↑ 13.0 13.1 Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL (June 2008). "A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy". Human Mutation 29 (6): 879–85. doi:10.1002/humu.20749. PMID 18409188. Retrieved on 2011-12-21.
  14. ↑ Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F (June 2008). "Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy". Mayo Clinic Proceedings. Mayo Clinic 83 (6): 630–8. PMID 18533079. Retrieved on 2011-12-21.
  15. ↑ Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE (August 2001). "Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations". Journal of the American College of Cardiology 38 (2): 315–21. PMID 11499718. Retrieved on 2011-12-21.
  16. ↑ Rosenzweig A, Watkins H, Hwang DS, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE (December 1991). "Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes". The New England Journal of Medicine 325 (25): 1753–60. doi:10.1056/NEJM199112193252501. PMID 1944483. Retrieved on 2011-12-21.
  17. ↑ Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ (July 2006). "High incidence of later-onset fabry disease revealed by newborn screening". American Journal of Human Genetics 79 (1): 31–40. doi:10.1086/504601. PMID 16773563. Retrieved on 2011-12-21.
  18. ↑ 18.0 18.1 Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE (October 2000). "Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy". Circulation 102 (16): 1950–5. PMID 11034944. Retrieved on 2011-12-21.
  19. ↑ Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C (October 2005). "Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling". Journal of Medical Genetics 42 (10): e59. doi:10.1136/jmg.2005.033886. PMID 16199542. Retrieved on 2011-12-21.
  20. ↑ Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ (November 2004). "Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy". Journal of the American College of Cardiology 44 (9): 1903–10. doi:10.1016/j.jacc.2004.07.045. PMID 15519027. Retrieved on 2011-12-21.
  21. ↑ Jeschke B, Uhl K, Weist B, Schröder D, Meitinger T, Döhlemann C, Vosberg HP (March 1998). "A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes". Human Genetics 102 (3): 299–304. PMID 9544842. Retrieved on 2011-12-21.
  22. ↑ Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H (March 1997). "Sudden death due to troponin T mutations". Journal of the American College of Cardiology 29 (3): 549–55. PMID 9060892. Retrieved on 2011-12-21.
  23. ↑ Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ (October 2003). "Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis". Heart (British Cardiac Society) 89 (10): 1179–85. PMID 12975413. Retrieved on 2011-12-21.
  24. ↑ Christiaans I, Lekanne dit Deprez RH, van Langen IM, Wilde AA (September 2009). "Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy". Heart Rhythm : the Official Journal of the Heart Rhythm Society 6 (9): 1366–9. doi:10.1016/j.hrthm.2009.04.029. PMID 19539541. Retrieved on 2011-12-22.
  25. ↑ Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H (March 2009). "Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives". Human Mutation 30 (3): 363–70. doi:10.1002/humu.20862. PMID 19035361. Retrieved on 2011-12-22.
  26. ↑ Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden AT, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AA (April 2010). "The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening". European Heart Journal 31 (7): 842–8. doi:10.1093/eurheartj/ehp539. PMID 20019025. Retrieved on 2011-12-22.
  27. ↑ Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ (November 2009). "Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers". European Heart Journal 30 (21): 2593–8. doi:10.1093/eurheartj/ehp306. PMID 19666645. Retrieved on 2011-12-22.
  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 (December 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 on 2011-12-19.
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