How Is Hypertrophic Cardiomyopathy Diagnosed?
HCM is identified through one of several paths, presentation of symptoms, clinical findings, or family history. To know if HCM is present in the heart most commonly will begin with imaging of the heart by echocardiogram or cardiac MRI. Genetic testing may be used but must begin with someone who has already displayed clinical HCM (the heart is already thick). If an HCM-promoting mutation is found, their close relatives can then be tested for the same mutation, to see if they are at risk of developing HCM.
- Physical Examination
Other testing may be needed, including: Cardiac catheterization or a Cardiopulmonary stress test.
It is not uncommon to see people diagnosed with asthma, anxiety attacks, panic attacks, or some forms of depression, only to find that the underlying cause of the symptoms is HCM. For decades there was significant confusion between "athletes heart" and HCM. the diagnosis of "athletes heart" is actually very rare and typically associated with high-intensity competitive endurance athletic participation (cycling, cross-country skiing, rowing). While both can cause the heart to thicken, "athlete's heart" is typically one with a normal ECG and will revert back to normal measurements with cessation of the sport.
Those with HCM often report symptoms that are misclassified as non-cardiac. In a survey of the HCMA, 19% report being advised various forms of asthma were to blame for their shortness of breath. 17% reported being diagnosed with anxiety or panic attacks when reporting feelings of their heart racing. 18% reported a diagnosis of depression when explaining they lacked energy or wanting to participate in social events and 51% were told their abnormal heart sounds were simply "innocent murmurs".
Diagnosis and decision making in HCM with Harry m. Lever, md.
Maron, B.J. and Salberg, L. Hypertrophic Cardiomyopathy: For patients, their families and interested physicians. Blackwell Futura: 1stedition 2001,81 pages; 2ndedition 2006, 113 pages; 3rdedition pending publication 2014
Gersh, B.J., Maron, B.J., Bonow, R.O., Dearani, J.A., Fifer, M.A., Link, M.S., et al. (2011). 2011 ACCF/AHA guidelines 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. Journal of the American College of Cardiology and Circulation, 58, e212-260.