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Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy in the absence of other cardiac or systemic causes. HCM is most frequently caused by mutations in genes encoding for the sarcomeric proteins in the cardiac muscle leading to myocyte disarray, a hallmark feature of HCM .1,2 Less commonly, ventricular hypertrophy is a presenting feature of genetic […]

Hypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy in the absence of other cardiac or systemic causes. HCM is most frequently caused by mutations in genes encoding for the sarcomeric proteins in the cardiac muscle leading to myocyte disarray, a hallmark feature of HCM .1,2 Less commonly, ventricular hypertrophy is a presenting feature of genetic systemic disorders, such as Danon disease, Fabry disease, or mitochondrial cardiomyopathy1. HCM has a variable clinical presentation; ranging from asymptomatic to sudden death. The prevalence of HCM in the general population is 0.2% or 1/500, affecting males and females equally.
The initial presentation of HCM can be as benign as a heart murmur noted on a physical examination, while other patients may present with symptoms of palpitations, chest pain, heart failure or syncope. HCM is most commonly characterized by left ventricular hypertrophy (LVH) on echocardiogram.

Tests Available

Combined Cardiac Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABCC9 , ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB , CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3 , LMNA, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
Clinical Utility:
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
Lab Method:
Exon Array CGH|Next-gen Sequencing

ORDERING

Test Code:
935
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81413x1, 81414x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18 [Updated 2014 Jan 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1131/
  2. Nava et al. (2000) Journal of the American College of Cardiology 36 (7):2226-33 (PMID: 11127465)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Hedley et al. (2009) Human mutation 30 (9):1256-66 (PMID: 19606473)
  5. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1517/
  6. de et al. (2008) Pacing And Clinical Electrophysiology : Pace 31 (7):916-9 (PMID: 18684293)
  7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1289/
  8. Priori et al. (2002) Circulation 106 (1):69-74 (PMID: 12093772)
  9. Goldenberg et al. (2008) Current problems in cardiology 33 (11):629-94 (PMID: 18835466)
  10. Priori et al. (2004) Annals of the New York Academy of Sciences 1015:96-110 (PMID: 15201152)
  11. Alders M, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1129/
  12. Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1405/
  13. Napolitano C, Splawski I, Timothy KW, et al. Timothy Syndrome. 2006 Feb 15 [Updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1403/
  14. Statland JM, Tawil R, Venance SL. Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1264/
  15. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1309/
  16. Marian et al. (1995) Annual Review Of Medicine 46 :213-22 (PMID: 7598458)
  17. Maron et al. (2002) JAMA : the journal of the American Medical Association 287 (10):1308-20 (PMID: 11886323)
  18. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1768/
  19. Callis et al. (2010) Expert Review of Molecular Diagnostics 10(3):329-51 (PMID: 20370590)
  20. Towbin JA et al. (2015) Lancet 386(9995):813-25 (PMID: 25865865)
  21. Allanson J and Roberts A. (Updated 2016 Feb 25). Noonan Syndrome. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle.1997-2012. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1124/

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