Getting to the Heart of the Matter

Heart Screenings for ALL NJ Children – Is your state next?

Within the work of the HCMA are several distinctive category of individuals we seek to provide services for and or communicate. For purposes of this blog post, I will not discuss in much detail the already diagnosed individuals. Instead, for this blog post, I wish to focus on the undiagnosed population or as is common with HCM the misdiagnosed population and health care practitioners.

First let me be very clear, screening is a process and not a test.   Those who think that “screening” is a “test” as it related to cardiac disease in the young, we direct you to the World Health Organizations definition of a Screening. Make no mistake I am not claiming that our organization nor I have the magic answer to this complex and elusive topic, but I would argue that we have a firm understanding of the challenges and technical complexities related to the topic. I can tell you that over the past approximately 20 years I have attended somewhere in the neighborhood of 200+ scientific sessions under the topic of sudden cardiac arrest in the young, how to prepare for sudden cardiac arrest, how to identify young athletes at risk for sudden cardiac arrest and similar topics. I have read hundreds upon hundreds of articles on the topic as well. I’ve had countless discussions with healthcare providers from around the world, participated in think tanks,  as a panelist at scientific sessions and have listened very carefully to every point of view and every data point. As I sit here to write this blog post, it dawns on me, I have never seen offered a session entitled how to find hypertrophic cardiomyopathy patients in the general population. Perhaps because nobody really knows the answer to that question, thus it has never been a topic of discussion per se.

There is one thing not lacking in the conversation about how to identify those who are at risk for SCA (and diseases that cause it), and that is PASSION. There are a group of people both laypeople and healthcare professionals who believe that the answer is simple, just do it electrocardiogram on all young athletes. I have taken a great bit of criticism because in part I do not agree that there is a simple answer, and in fact, I have seen great harm, from community-based ECG screening initiatives including deaths of participants, who for some reason never seem to make it into the published literature. I have also seen people arrive at diagnosis and many grateful to have that opportunity from community screening programs. I have also seen people told they may have a problem only to chase the possibility at great expense both emotional and financial.  What is difficult is that it is incredibly hard to quantify benefit and or harm from these types of programs. Many will tell you that individual who was identified as having a cardiac abnormality in a community-based screening program is a “save”, or that sudden cardiac arrest was averted due to this identification, this cannot be validated as SCA is very rare and risk profiles in individual patients so diverse. Coming from my point of view identifying somebody with hypertrophic cardiomyopathy and what the ultimate outcome will be has very little to do with how the identification of the diseases made.

In a recent study of the HCMA population, nearly 1500 patients were asked the question “how were you diagnosed”.  53.3% had symptoms that raised concern, 12.3% were found at family screenings 27.2% were found in a general physical in conversation with their healthcare provider, 9.7% stated “other” most of which fall in to the numbers above in some fashion and 1.6% were related to sudden cardiac arrest (survived or death reported by a family member).   This is an interesting starting point to ask, how do we find more?  Other important questions include do outcomes change by method of identification?, Is there a method to test families more comprehensively?

The HCMA worked with legislators in NJ to find ways to address this very issue and we started our work shortly after Former Gov. Corzine signed an order calling for the creation of a Task Force to evaluate the “problem of sudden cardiac arrest in athletes”.   As many know, HCM is the leading cause of sudden cardiac arrest in young athletes.  It is because of this fact that many try to say, “Let’s start with athletes and ‘screen’ them”.   This sounds like a noble cause, however based on my vantage point I think it is flawed on several levels.   The committee met over a two year period and released a report (attached here).   The recommendations in the report were moved to legislation or supported existing legislation.  Janet’s Law was passed shortly after as were laws governing the creation of a sudden cardiac event registry, the student athlete protection act and Good Samaritan coverage for using an AED.  There was one large whole in the program – the rest of the children.   All the non-athletic children and those who were unable to compete at a level deemed appropriate for participation at the High School level were excluded, although it is far more common for them to die.  Non-athletic children die at a much greater rate than athletes die, and based on this fact exclusion of them is nothing short of discriminatory.   This is where the Well-child inclusion language was developed.   Bill S-471 (Madden) was created to address the gap created. May 4, 2015 it was signed into law by Gov. Christy.  This law uses the well-child exam and adds 14 component piece to the program – the American Heart Association 14 points for cardiac evaluation, previously used only in sports pre-participation physicals.

Medical history*

Personal history

  1. Chest pain/discomfort/tightness/pressure related to exertion
  2. Unexplained syncope/near-syncope†
  3. Excessive and unexplained dyspnea/fatigue or palpitations, associated with exercise
  4. Prior recognition of a heart murmur
  5. Elevated systemic blood pressure
  6. Prior restriction from participation in sports
  7. Prior testing for the heart, ordered by a physician

Family history

  1. Premature death (sudden and unexpected, or otherwise) before 50y of age attributable to heart disease in ≥1 relative
  2. Disability from heart disease in close relative <50 y of age
  3. Hypertrophic or dilated cardiomyopathy, long-QT syndrome, or other ion channelopathies, Marfan syndrome, or clinically significant arrhythmias; specific knowledge of genetic cardiac conditions in family members

Physical examination

  1. Heart murmur‡
  2. Femoral pulses to exclude aortic coarctation
  3. Physical stigmata of Marfan syndrome
  4. Brachial artery blood pressure (sitting position)§

AHA indicates American Heart Association.

*Parental verification is recommended for high school and middle school athletes.

†Judged not to be of neurocardiogenic (vasovagal) origin; of particular concern when occurring during or after physical exertion.

‡Refers to heart murmurs judged likely to be organic and unlikely to be innocent; auscultation should be performed with the patient in both the supine and standing positions (or with Valsalva maneuver), specifically to identify murmurs of dynamic left ventricular outflow tract obstruction.

§Preferably taken in both arms.

This evaluation done annually in the “well-child” exam will permit the health care provider and family to have a conversation and determine if any additional testing is warranted.  This keeps care in the doctor’s office, ensures health information privacy, records are retained within the patients’ health home, permits screening – not once but as often as once a year from 1 to 19.   It is also reimbursed under all ACA policies, private insurers, Medicaid and all ERISA based plans and referrals made should be covered by all NJ health plans as the doctor has deemed them medically necessary.   It also requires all healthcare providers conducting such screening take a training model to ensure they understand what it is they are looking for.    We remain the only state with a systematic program that include healthcare provider training and patient engagement.

For those who think, if there is no ECG its not a screening, I respectfully disagree, as do AHA, ACC, HRS, the US Preventative Task Force, The World Health Organization and most other professional societies.  It is best to review the WHO’s guidelines on screening: World Health Organizationguidelines, often referred to as Wilson’s Criteria were published in 1968, but are still applicable today.[2]

  1. The condition should be an important health problem.
  2. There should be a treatment for the condition.
  3. Facilities for diagnosis and treatment should be available.
  4. There should be a latent stage of the disease.
  5. There should be a test or examination for the condition.
  6. The test should be acceptable to the population.
  7. The natural history of the disease should be adequately understood.
  8. There should be an agreed policy on whom to treat.
  9. The total cost of finding a case should be economically balanced in relation to medical expenditure as a whole.
  10. Case-finding should be a continuous process, not just a “once and for all” project.

As there are many disorders of the heart that can be identified in the young, the AHA 14 point questionnaire and physical meet the definition of the WHO’s screening test.  A particular testing tool, such as an ECG does not for many reasons. For those interested in gathering some thoughtful perspective on the controversy over this debate, I will provide several citations that review the matter from a scientific and multi-disciplinary point of view.

12-lead-ECG article 9-15-14 – USA

Cardiovascular Pre-Participation Screening in young Athletes: Belgium

Ethics of Participation – USA

HCMA Press Release Well Child NJ Law 2015

NJ Senate Bill 471

NJ Law in the News – CBS NYC

ACC Blog

Texas attempts unfunded mandate

Healthcare belongs in the hands of parents, patients and healthcare providers and together they can make the choices to have additional testing if it is warranted. In New Jersey we have mandated that during the (reimbursed) well-child visit the AHA 14 points be added, training given to those providing this service and the family can use their own choice as to what to do next and who to seek service from after careful consultation with their healthcare team.   If you think this is sound, sustainable and scientifically reasonable and you wish to have similar legislation presented in your state please contact the HCMA and or use these resources to open dialog with your State representatives.


Lisa – aka your Bighearted Blogger