logo

Saving & Improving lives since 1996

Why Consider Genetic Testing in HCM

The role of genetic testing in HCM

The discovery of the gene defects responsible for HCM is a major step toward understanding in precise terms the basic cause of HCM.  In addition, laboratory DNA-diagnosis from a blood test is now available for the first time commercially.  This availability may prove to be particularly useful in identifying HCM in young children and adolescents, or in clinical situations where the HCM diagnosis is ambiguous — such as athletes in whom it is difficult to distinguish HCM from the effects of chronic exercise and training on the heart (i.e., “athlete’s heart”), or the consequences of hypertension.

This type of genetic testing has also been utilized selectively by families with a known HCM mutation to determine if their children or other relatives have the same genetic marker.  This knowledge will allow for careful follow-up for those with a known genetic mutation or freedom from the need for annual cardiac evaluation in those relatives without a mutation.  Certainly, the knowledge of a “mutation” may be highly emotional, debilitating, and in some ways even worse than actual diagnosis for a particular patient.  Genetic counseling is highly recommended for family members undergoing genetic screening to prepare them for the results and help interpret the findings.

 

Citations:

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH 3rd, Spirito P, Ten Cate FJ, Wigle ED; Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology.J Am Coll Cardiol. 2003 Nov 5;42(9):1687-713

Hypertrophic Cardiomyopathy for Patients, Their Families and Interested Physicians Second Edition: Maron and Salberg, Wiley publishing 2006

The first patient clinically diagnosed with hypertrophic cardiomyopathy.Maron BJ, Bonow RO, Salberg L, Roberts WC, Braunwald E.Am J Cardiol. 2008 Nov 15;102(10):1418-20

The first patient clinically diagnosed with hypertrophic cardiomyopathy.

Maron BJ, Bonow RO, Salberg L, Roberts WC, Braunwald E.Am J Cardiol. 2008 Nov 15;102(10):1418-20

Costello syndrome and related disorders.Quezada E, Gripp KW.Curr Opin Pediatr. 2007 Dec;19(6):636-44

Noonan syndrome.van der Burgt I.Orphanet J Rare Dis. 2007 Jan 14;2:4.

Physical therapy management of Pompe disease.Case LE, Kishnani PS.Genet Med. 2006 May;8(5):318-27

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE.Circulation. 2005 Sep 13;112(11):1612-7.

Amyloid heart disease mimicking hypertrophic cardiomyopathy.Mörner S, Hellman U, Suhr OB, Kazzam E, Waldenström AJ Intern Med. 2005 Sep;258(3):225-30.