Screenings for those with a family member with HCM
The following information is based on available medical research, documents, consensus documents and the entire body of scientific literature and knowledge on the screenings for HCM and basic management of the condition.In the event of the diagnosis of HCM in a family or an HCM-related death of a family member, it is recommended that all blood relatives be screened. This screening MUST include an EKG/ECG, Echocardiogram, and a cardiac check up by a cardiologist. Ideally the cardiologist should have specialized knowledge of Hypertrophic Cardiomyopathy. Due to the fact HCM is a condition that affects 1 in 500 people it may require the patient seek out a specialist in the field of HCM to ensure they are being evaluated by a fully knowledgeable medical provider. In many cases this will require travel out of state and in some cases out of the country. Local cardiologists in most areas will only see a handful of HCM patients at best in their entire practice, thus the patient’s needs are better served by a physician who sees the condition, in all its forms, on a regular basis,
Hypertrophic Cardiomyopathy may be suspected because of family history, symptoms, a murmur or an abnormal EKG/ECG. Many symptoms or signs of Hypertrophic Cardiomyopathy are similar to various other conditions; therefore, it is important to follow doctor’s instructions on complete testing to assure accurate results. An EKG/ECG records the electrical signals of the heart. In Hypertrophic Cardiomyopathy the EKG/ECG usually shows an abnormal electrical signal due to muscle thickening and disorganization of the muscle structure. In a minority of patients (approximately 10%) the ECG/ECG may be normal or show only minor abnormalities. EKG/ECG abnormalities are also not specific to Hypertrophic Cardiomyopathy and will be found in many other conditions.
Presently, the diagnosis of Hypertrophic Cardiomyopathy is made by an ultrasound scan of the heart called “echocardiogram” or “Echo” for short. Like the EKG/ECG, this is an entirely safe test. Excessive thickness of the muscle can be easily measured. Additional equipment called “Doppler” ultrasound can produce a color image of the blood flow within the heart and measure the contractions and filling of the heart. Turbulent flow can be detected using the doppler. Therefore, Echo/Doppler provides a very thorough assessment of Hypertrophic Cardiomyopathy.
MRI has been used in more frequent years to gain a more detailed image of the heart. MRI is the use of newer technology and can produce clearer pictures of the heart and also show the structure of the walls of the heart in such a way that scaring and fibrosis can be viewed.
After a diagnosis is made several other tests may be required. Holtor monitoring is a continuous recording of the heartbeat over a period of 24 to 48 hours. A holtor monitor is a simple and safe test that will detect irregularities of the heart beat (otherwise known as arrhythmia). Stress tests and Stress Echo’s may be used to monitor the heartbeat during exercise as well as blood pressure response and then the echo to see if there have been any structural changes due to the exercise. Cardiac catherization may follow but it is not used on all patients with HCM.
What to tell your family members about screenings for HCM
This can often be a difficult and stressful topic for discussion. A great first step is to print out this portion of the website and give it to family members.
What they need to know is rather simple;
- · All first-degree relatives of the affected person should get screened as soon as possible.
- · Screenings must be done annually from onset of puberty (approx. age 12) to full growth (approx. age 20) and every 5 years age 25 and over.
- · Screenings must include an ECG (EKG), echocardiogram and a visit to a cardiologist.
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 Asociation Task Force on practice guidelines. Journal of the American College of Cardiology and Circulation, 58, e212-260.