The Quarterly Consult is a quarterly supplement to the Bulletin highlighting pediatric clinical expertise. If you have an item of interest to include in the Quarterly Consult, contact Dr. Steve Dassel at 206-625-7373, mailbox 8588.

By Steve Dassel, MD

I recently spoke with Dr. Michelle Gurvitz, a pediatric cardiologist in the Heart Center at Seattle Children's Hospital.

She has a joint appointment as an assistant professor of pediatrics in the Cardiology Division, Department of Pediatrics and as an adjunct assistant professor of medicine in the Cardiology Division, Department of Medicine at the University of Washington School of Medicine.

She participates in the Adult Congenital Heart Disease Program, which supports the transition of adolescent and young adult patients with congenital heart disease from pediatric to adult-oriented congenital cardiology care.

Q: How does new heart disease present in an adolescent?

A: It is not as common for congenital heart disease to present in adolescence as compared to younger ages. A murmur may be detected in adolescence because it is louder, or it may actually be new.

A bicuspid aortic valve may develop a leak or a stenosis, presenting as a new early diastolic murmur in the former or a systolic ejection murmur presenting at the right upper sternal border, with or without a click, in the latter. Also, findings of an atrial septal defect (ASD), pulmonary flow murmur and widely split second heart sound may be easier to detect in adolescence.

Another example is hypertrophic cardiomyopathy, which may develop in an adolescent and present with a murmur or syncope or, rarely, sudden death.

Q: What about new onset arrhythmias?

A: Supraventricular tachycardia would be the most common. It will usually present with intermittent episodes of sudden onset fast heartbeats that are often self-limited.

If the episodes are persistent, there may be associated symptoms such as shortness of breath or light-headedness.

Q: What kind of acquired heart disease presents in the adolescent?

A: The infectious or inflammatory conditions come to mind first. These would include pericarditis, myocarditis and endocarditis. Pericarditis will present with positional chest pain, often accompanied by symptoms of a viral illness. It can be diagnosed by symptoms and with diffuse ST elevations on an EKG.

The patient may also have a friction rub on exam. Acute myocarditis can have a fulminant presentation with a very sick child, possibly in congestive failure or with arrhythmias following a viral illness that might be either respiratory or gastrointestinal.

The congestive heart failure is usually from sudden ventricular dysfunction or arrhythmias. Bradycardia out of proportion to the illness or syncope can be a sign of third degree heart block.

Endocarditis is most often seen in children with underlying congenital heart disease. Persistent fevers, weight loss, new murmur or peripheral embolic stigmata can be clues to the diagnosis.

Q: We also see a lot of adolescents presenting with feared cardiac disease when they do not actually have cardiac disease. Chest pain is an example. How may we reassure ourselves and our patients that their chest pain is not of cardiac origin?

A: Most intermittent or recurrent chest pain is not cardiac in origin. It is much more likely to be related to musculoskeletal, respiratory or gastrointestinal systems. As we discussed earlier, if the pain is acute, persistent and positional, pericarditis should be a consideration.

Concerning features of intermittent or recurrent chest pain would include pain that is exertional or accompanied by other symptoms, such as syncope or near-syncope, palpitations, or radiation down the arm or into the jaw.

It is also very important to know if there is positive family history for Marfan syndrome, sudden death, hypercholesterolemia, and early (at less than the age of 50) myocardial infarctions, although the risk of traditional coronary artery disease in an adolescent is very small.

Q: Another noncardiac event we often see is syncope. What are the key questions for us to ask?

A: As with chest pain, syncope is a common finding in adolescents. Again, as with chest pain, some of the more concerning findings would be syncope related to exercise or preceded by palpitations, or syncope in a patient with previously known congenital heart disease.

A family history of sudden death or hypertrophic cardiomyopathy should prompt cardiac consultation as well. Some of the more reassuring points in a history would be if the syncope is positional or orthostatic, or if it is related to dehydration or poor eating habits.

Q: That brings to mind another adolescent scenario - the tall, slender adolescent. When should we think of Marfan syndrome?

A: There are a number of physical characteristics that prompt a consideration of Marfan syndrome beyond the tall, slender adolescent.

The possible diagnostic, molecular and family history findings are described in the Ghent criteria and divided into organ systems and major and minor categories: for example, arm span exceeding height by a ratio of 1.05, a positive thumb sign and a positive wrist sign.

A positive thumb sign is when the thumb enclosed within a fist protrudes beyond the ulnar border. A positive wrist sign is when the thumb and fifth finger of one hand overlap when encircling the wrist of the other hand.

Other findings include dislocated lens, scoliosis, flat feet, high arched palate, history of spontaneous pneumothoraces, pectus excavatum and nearsightedness.

Q: Do we refer patients with suspected Marfan syndrome to you, Genetics, Ophthalmology, or another department?

A: In short, the answer is yes to all. Most patients with Marfan syndrome or a concern for it should see the geneticists. Often patients with Marfan syndrome end up seeing geneticists, cardiologists and ophthalmologists, and others as needed.

There is a combined cardio-genetics clinic at Seattle Children's that provides care for patients with Marfan syndrome and other cardio-genetic syndromes.

Q: Is sudden cardiac death in adolescents usually preventable?

A: That is a difficult question and a big topic. The most common causes of sudden death include hypertrophic cardiomyopathy, coronary artery anomalies and ruptured aorta.

The screening currently recommended, particularly for pre-participation, includes a comprehensive patient and family history and patient physical exam. Any concerning findings can then be referred to Cardiology or other subspecialties as appropriate.

Q: As a cardiologist, what do you think we should cover in a pre-participation sports exam?

A: There are good pre-participation exam screening questions and recommendations from both the American Academy of Pediatrics and the American Heart Association.

The personal and family histories remain very important, as does a physical exam looking for concerning findings, including high blood pressure, murmurs, or stigmata of Marfan syndrome.

Some examples of the screening questions include those related to exertional chest pain or syncope and family history of sudden death, Marfan syndrome or hypertrophic cardiomyopathy.

Also, known congenital heart disease, arrhythmias or other known cardiac problems, including a past history of myocarditis or Kawasaki disease, are important and should prompt a cardiac evaluation prior to sports participation.

Q: If our patients have both attention deficit disorder (ADD) and structural heart disease or arrhythmias, under what circumstances can they be treated with stimulant medication?

A: For any patients with known congenital heart disease or arrhythmias, it is important for parents and primary care providers to consult the primary cardiologist regarding the use of stimulant medications.

It is always a risk-benefit decision, and as we learn more about some of the effects of the stimulant medications, the risks may become clearer. Some examples of the more worrisome cardiac conditions include aortic stenosis, hypertrophic cardiomyopathy, coronary artery abnormalities and cardiac arrhythmias.

Q: I understand you have a special interest in helping adolescent patients with cardiac problems transition to adult-oriented congenital cardiology care. What are the problems there?

A: This particular area is becoming a challenge only because of the success of pediatric cardiology and cardiac surgery with infants and children. Currently, it is expected that close to 90% of children born with congenital heart disease will survive to adulthood.

As these patients enter adulthood, they continue to require congenital heart disease follow-up but they will also acquire the physical and social conditions of adulthood. These include employment and insurance issues, pregnancy and adult onset medical conditions.

Unfortunately, many patients do not continue to follow up during the transition period of leaving home. Many feel well and consider themselves "cured," and they only present to medical care when they develop symptoms or complications later.

By maintaining regular follow-up, cardiac complications that may arise when patients reach their 30s and 40s can often be avoided or at least mitigated.

Some of the more common late-onset complications include ventricular dysfunction, arrhythmias or need for additional surgery. Pregnancy can also produce an added stress, compromising a previously well-functioning heart.

Most of these patients should see an adult congenital cardiologist periodically, just as they have seen their pediatric cardiologist.

Q: How can we help with the transition to adult-oriented congenital cardiology care?

A: Pediatricians have a critical role in presenting these concepts to their adolescent congenital heart disease patients. Patients may have gone for years, through school age and adolescence, doing nothing more about their heart than seeing the doctor and taking antibiotic prophylaxis for dental visits.

I would like to interject at this point that we urge our cardiology patients to have antibiotic prophylaxis for any body-piercing other than the earlobe and for tattooing. It is important to make these patients aware that they have a chronic condition that requires routine follow-up.

This should be done in conjunction with preserving their emotional health and the appropriate physical activities for their particular condition.

Q: You're working on various methodologies, such as interactive web-based programs, to get kids motivated to transition successfully.

A: Yes. Although many physicians and organizations see the need for transition services, there are no validated "gold standard" methods to ease the process.

We are working with the Center for Children with Special Needs and the Adolescent Health Transition Project at University of Washington to investigate methods that will hopefully be successful to help adolescents transition. We are also working with healthcare providers in other subspecialties that are facing similar challenges of transition.

It is our hope that, with continued excellent survival, transition will eventually become part of the accepted process, similar to graduating high school or progressing to the next grade level.

Thank you, Michelle.