Athlete's Heart Blog

Dr Larry Creswell

Dr. Larry Creswell on athletes and heart health.
About Larry / Contact
  • Facebook
  • RSS
  • Twitter

Writing on…

Copyright © 2023 · Wintersong Pro Theme on Genesis Framework · WordPress · Log in

You are here: Home / Archives for congenital heart disease

Shaun White, Snowboarder, 1986 –

January 6, 2014 By Larry Creswell, MD Leave a Comment

»¬°å¸ßÊÖShaun White

 

 

 

 

 

Shaun White is a 27 year old native of California who’s become equal parts snowboarder and pop celebrity.  In addition to enjoying great success in the X Games, White is also the 2-time defending Olympic champion in the halfpipe event.

Interestingly, White was born with a congenital heart condition known as Tetralogy of Fallot (TOF).  With this condition, there are 2 primary defects–a hole (septal defect) between the ventricles (the pumping chambers) and narrowing, or stenosis, of the pulmonary valve and trunk.  The remaining features include hypertrophy, or thickening, of the right ventricle which must do extra work to pump blood through the narrowed pulmonary valve, and an “overriding” aorta that is shifted in location above the septal defect.  This condition occurs in approximately 1 per 2,000 infants.

By report, White underwent 2 operations to repair this condition while he was an infant.  Today, most children have a complete repair in a single operation that involves closing the septal defect and enlarging the opening at the pulmonary valve or replacing the valve altogether.  Most patients do quite well after operation to repair TOF.  Over the long term, these patients may develop problems, even years later, like arrhythmias or leakage of the pulmonary valve.  For that reason, these patients need periodic monitoring indefinitely.

White is an example of the growing population of adult athletes who have some form of (often corrected) congenital heart disease.  It’s really not surprising that there are elite athletes in this situation.  In the specific case of corrected TOF with a good outcome, the most recent guidelines from the 36th Bethesda Conference suggest that athletes can participate fully in their sports.  There will be specific guidelines regarding the safety of sports for each of the many different congenital heart conditions.

There is increasing awareness in the medical community of the importance of exercise for teenagers and adults who have congenital heart disease.  Recent guidelines will help athletes and their doctors make thoughtful decisions about exercising safely.

 

Photo by http://www.flickr.com/photos/bfishadow/ User:bfishadow.

Filed Under: Athletes & preventive care, Famous athletes with heart problems Tagged With: congenital heart disease, heart surgery, snowboard

More on Athletes and Bicuspid Aortic Valve (BAV)

September 26, 2013 By Larry Creswell, MD 155 Comments

 

I probably get more inquiries from athletes with bicuspid aortic valve (BAV) than any other single heart problem.  Maybe that’s not surprising, given that I’m a heart surgeon and that many individuals with BAV need operation at some point.  Nonetheless, I think there’s considerable confusion about this condition, in terms of diagnosis, implications for the athlete, and its treatment.

I first wrote about BAV in a short post here at the blog back in 2009.  That post is a starting point for today’s discussion.

To quickly review, individuals with BAV have an aortic valve with 2 unequal–instead of the usual 3 equal sized–leaflets.  As a consequence, these individuals develop earlier calcification of the valve leaflets, leading to narrowing, or stenosis.  They are also predisposed to enlargement of the ascending aorta, the large blood vessel that carries blood flow away from the heart.  This can lead to stretching apart of the valve leaflets and leakage at the valve, known as regurgitation.

Looking through the reader comments here at the blog and reflecting on the athlete inquiries I’ve received, I thought I’d cover some of the major issues.

First, you’re not alone!

BAV is one of the most common congenital heart conditions, occurring in about 2% of individuals.  In large-scale pre-participation cardiac screening programs for young, competitive athletes, BAV is one of the most commonly identified abnormalities.

Historically, a heart murmur was the most common reason affected individuals were identified.  Today, echocardiography (ultrasound) for screening or diagnostic purposes for some other heart problem is the most common way that BAV is detected.

Finally, athletes are not spared.  Several contemporary elite triathletes have BAV and I’ve written about their stories in:

  • An article at Endurance Corner about Normann Stadler
  • A blog post about elite triathletes and heart problems.

Examples from other sports would include Arnold Schwarzenegger, among others.

And of course the problem occurs in everyday, recreational athletes, too.  Check out Anthony DiLemme’s blog, Anthony’s Heart Valve Replacement Saga.  He’s a 30-year-old 8th grade science teacher, a cyclist and outdoorsman, who is chronicling his story with BAV–from diagnosis, to evaluation, to preparations for upcoming valve replacement surgery.  His story is typical.

On the bright side, there is ample evidence that, in the modern era, life-expectancy is not shortened for individuals with BAV compared to the general population.  That’s important to keep in mind.

Before operation is needed

It’s worth knowing if you have BAV.

Aside from the problems with aortic valve stenosis or regurgitation or with enlargement of the aorta, individuals with BAV can also suddenly develop the problem of aortic dissection.  With aortic dissection, the aorta can develop a tear on its inside wall, leading to unraveling of its layers, and even rupture.  This is thought to occur at a rate of about 0.1% per year in adults.  This can be a life-threatening problem and is more apt to occur with progressive enlargement of the aorta and with uncontrolled high blood pressure.

The American College of Cardiology (ACC) in conjunction with the  American Heart Association (AHA) has issued guidelines for the evaluation, monitoring, and treatment of individuals with BAV:

  • Patients with known BAV should undergo:
    • An echocardiogram to evaluate the aortic valve for stenosis or regurgitation and to assess for any other structural heart problems
    • A chest CT scan to make measurements of the diameter of the aorta at various points along its length.
  • Cardiac CT scan or magnetic resonance imaging (MRI) are alternatives if echocardiography is not available or possible for some reason
  • If there is enlargement of the beginning portion of the aorta to greater than 4.0 cm, the individual should have a yearly assessment of the diameter of the aorta
  • Medical therapy may be useful to slow or halt the progression of aortic valve disease and aortic enlargement by reducing the blood pressure and the blood pressure across the aortic valve.  Beta-blockers (eg, metoprolol) are recommended for this purpose.
  • Because BAV may be an inherited condition, first-degree relatives of individuals with BAV should undergo evaluation.

In my opinion, these are useful guidelines for athletes and non-athletes, alike.  The guidelines do not address the frequency of surveillance for individuals with BAV and no enlargement of the aorta.  For these individuals, provided there is no other relevant heart disease, it may be appropriate to have follow-up echocardiogram and/or CT scanning every 2 years.

The data regarding the progression of disease in athlete patients with BAV are limited.  Guidelines specifically for athletes come from the Proceedings of the 36th Bethesda Conference in 2005.  Parenthetically, it may be time for an update.  The guidelines were developed by an expert panel based on the scientific information available at that time:

  • Athletes with BAV, no significant valve stenosis or regurgitation, and an aortic diameter less than 4.0 cm can participate fully in their sport(s)
  • Athletes with BAV and enlargement of the aorta to between 4.0 and 4.5 cm can participate safely in only low and moderate intensity sports (this would exclude the typical endurance sports of swimming, cycling, running, triathlon, etc.)
  • Athletes with BAV and enlargement of the aorta to greater than 4.5 cm can participate safely only in low intensity sports (eg, golf, bowling, billiards).

The issue has not been studied very well, but one recent study suggests that continued participation in sports for periods of up to 5 years does not change the natural history and progression of BAV.  Instead, even with continued sports participation, the progression of both valvular and aortic disease is no different from that in the general population.

Who needs operation?

Operation is needed if there is severe aortic valve stenosis, severe valve regurgitation, or significant enlargement of the aorta.  Again, there are ACC/AHA guidelines for when operation is needed:

  • Aortic valve replacement is recommended for nearly all patients with severe valve stenosis (valve opening less than 1.0 cm2)
  • Aortic valve replacement is recommended for patients with severe valve regurgitation if there are symptoms due to the regurgitation (eg, shortness of breath with exertion) or evidence that the heart is suffering because of the regurgitation (enlargement of the left ventricle)
  • Repair or replacement of the beginning portion of the aorta is recommended if there is enlargement of the aorta to greater than 5.0 cm or if the rate of increase in the aortic diameter exceeds 0.5 cm per year

Sometimes more than one indication for operation may be present, so there is the additional guideline for patients who need operation for aortic stenosis or regurgitation:

  • In patients needing valve replacement because of stenosis or regurgitation, the aorta should be repaired or replaced if the aortic diameter exceeds 4.5 cm.

I know from discussion with athletes over the past few years that there are differences of opinion among cardiologists and heart surgeons about these guidelines.  These differences of opinion may be legitimate.  Consensus guidelines are developed to be broadly applicable, but the guidelines may not be applicable in a given athlete patient’s circumstance.  There are a multitude of patient-specific circumstances that must be considered when deciding if and when operation is needed.  Only your cardiologist and heart surgeon will be in a position to make those considerations.

In practice, the indications for aortic valve replacement for severe aortic stenosis or severe aortic regurgitation are straightforward and uncontroversial.  It’s also clear-cut that patients with significant enlargement of the aorta to greater than 5.0 cm need operation for replacement of the aorta.

One situation that seems particularly ripe for differences of opinion is that of the athlete with BAV, no significant stenosis or regurgitation, but with an aortic diameter of 4.5 to 5.0 cm.  This is an unfortunate situation for the athlete patient because the consensus guidelines do not yet recommend operation, yet advise against strenuous sports activities.  My personal approach to endurance athletes in this situation would be to offer operation if the patient wanted to continue to participate in endurance sports (after operation) and was willing to assume the risks of operation.  But I recognize that not all cardiologists or heart surgeons would agree.

Options for operation

Substitute valves.  There are 2 broad categories of heart valve substitutes that can be used to replace the human aortic valve:  mechanical valves or bioprosthetic (“tissue”) valves.

  • Mechanical valve.  These valves are constructed from high-tech materials that are designed to last essentially forever.  Unfortunately, these materials may cause tiny blood clots to form on their surface and, for that reason, patients must take blood-thinning medications (eg, warfarin) forever to prevent this complication.  The major brands include St. Jude Medical, Medtronic, Sorin-Carbomedics, and On-X.
  • Bioprosthetic valve.  This type of valve is made primarily from animal tissues.  One example is the aortic valve “borrowed” from a pig.  Another example is a valve that is made from “fabric” borrowed from the pericardium of the cow.  These valves have the advantage that blood clots are much less likely to form on their surface, so patients do not need to take blood-thinning medications (other than, perhaps, aspirin) in the long term.  They have the disadvantage that they do not last forever.  Young patients who receive these valves may need to have the valve re-replaced because it “wears out” at some point.  The major manufacturers include Medtronic, St. Jude Medical, and Edwards Lifesciences.

Aortic replacement.  When the aorta is enlarged in the setting of BAV, there are a couple possibilities:  the valve needs to be replaced–or it doesn’t:

  • With valve replacement.  When the aorta needs to be replaced along with the aortic valve, we call this procedure an aortic root replacement.  This is a complicated operation technically and must be tailored very carefully to the patient’s specific situation.  Options include:
    • Mechanical valve conduit.  Products are available that combine a mechanical valve attached to a Dacron fabric tube.  This is used, as a unit, to replace the patient’s aortic valve and beginning portion of the aorta.  The coronary arteries are re-implanted into the Dacron tube.  Of the options listed here for aortic root replacement, this is by far the most common.
    • Bioprosthetic valve conduit.  This is not commercially available, but can be assembled in the operating room.  The operation is like described above for the mechanical valve conduit.
    • Medtronic Freestyle valve.  This is a unique product that is a porcine aortic root that can be used to replace the human patient’s aortic root, like the other operations above.
    • Ross procedure.  This is the most technically complicated option.  The patient’s aortic valve and beginning portion of the aorta are removed.  The patient’s own pulmonary valve is removed and then used to replace the aortic valve and beginning portion of the aorta.  The coronary arteries are re-implanted into the pulmonary valve trunk.  A cryopreserved pulmonary allograft (the pulmonary valve and trunk from a human cadaver) is then used to replace the patient’s pulmonary artery.
  • Without valve replacement.  When only the aorta must be replaced, a Dacron fabric tube is used.

Valve repair.  There is recent interest and experience with aortic valve repair–instead of replacement–for patients with BAV.  These techniques are most applicable to situations in which there is regurgitation, rather than stenosis, of the valve and when there is also enlargement of the aorta.  To help correct the regurgitation, the cusps of the patient’s valve leaflets can be tailored, with the valve leaflets left in place.  Then, a Dacron fabric tube can be used to reconstruct the aorta, in a so-called valve-sparing aortic root replacement.  This procedure has the particular benefit that no artificial valve (with the disadvantages described above) needs to be used.  The potential downside relates to durability.  Questions currently remain about how long such repairs will last and whether patients might require re-operation at some point in the future.  This valve repair option is one that might best be pursued at a center that specializes in this problem.

After operation

The recovery from heart surgery can be hard to predict for any given patient, but we know that young otherwise healthy patients tend to do well.  Most patients spend about a week in the hospital after operation and then are able to go home.

Early after operation, and for perhaps the first month, we typically limit activities that place stress on the shoulders and sternum.  This gives a chance for the sternum, which was split during the operation, to heal completely.  So for that first month, we usually advise no driving, lifting, pulling, pushing, reaching, etc.  During that first month we recommend ample walking as the best form of exercise.  After the first month, patients are generally allowed to return gradually to all of their previous activities.

Patients who’ve had aortic valve replacement and/or replacement of the aorta will require life-long monitoring by their doctor, with periodic echocardiogram and/or chest CT scanning.  Over time, there will be some patients who develop problems with the prosthetic heart valve or enlargement of some portion of the aorta (that hasn’t already been replaced) that requires operation.

Athletes will ask when they can return to their sports.  Consensus guidelines from the Proceedings of the 36th Bethesda Conference recommend:

  • Athletes with mechanical or bioprosthetic heart valves may participate in low and moderate intensity sports
  • Athletes who are taking blood-thinning medications should avoid sports where bodily injury, with potentially life-threatening bleeding, might occur

The first recommendation does not include the endurance sports.  The truth is that there is not much scientific information about what happens to such athletes if they do return to endurance sports.  At issue are the potential long-term effects of repeated episodes of high heart rate and high blood pressure that accompany intense exercise.  Unanswered questions include:  Can a bioprosthetic valve wear out more quickly than expected?  Does the (unreplaced) aorta enlarge over time?  If so, how quickly?  Do medications like beta-blockers limit any potential harm?  We just don’t know.

Yet I’m personally aware of a good number of athletes who’ve returned to endurance sport after operations of various sorts for BAV, presumably after discussion with their doctors.  Athletes should have detailed discussion with their doctors about any prudent limitations to exercise after operation and settle on a mutually agreeable plan.

Related posts:
1.  Aortic stenosis and bicuspid aortic valve (BAV)
2.  Elite triathletes and heart problems
3.  Index to blog posts and online articles

Filed Under: Heart problems Tagged With: aorta, aortic aneurysm, arotic valve, bicuspid aortic valve, congenital heart disease, heart, heart surgery

In the Medical News: Time for Updated Guidelines for Athletes with Long QT Syndrome?

February 13, 2013 By Larry Creswell, MD Leave a Comment

A new study by Drs. Johnson and Ackerman from the Mayo Clinic just published in the British Journal of Sports Medicine cast doubt on the current guidelines for athletes with congenital long QT syndrome (LQTS).

In a previous post, I wrote about the condition known as LQTS.  You may already know that this condition comes in an inherited, or congenital, form as well as an acquired form (as an unwanted side effect of various medications).  Today, we’ll focus on the congenital form.

Patients–particularly young athletes–with congenital LQTS have a well-documented increased risk of sports-related sudden cardiac death (SCD).  The magnitude of that risk depends upon the particular genetic defect responsible for the condition.

The latest consensus guidelines regarding athletes and heart disease were published in the United States in 2005 as Proceedings from the 36th Bethesda Conference and in that same year by European Society of Cardiology (ESC).  To summarize these guidelines in a nutshell….

Bethesda Guidelines

1.  Athletes should be limited to low-intensity sports (eg, billiards, bowling, cricket, curling, golf, riflery) if they have LQTS:  with any symptoms; if the QTc is >470 msec for males or >480 msec for females; or if they have an internal cardioverter-defibrillator (ICD).

2.  Athletes who are proven gene carriers for LQTS but who have no symptoms are allowed to participate fully in their sports.

ESC Guideline

1.  Athletes with LQTS, regardless of the presence or absence of symptoms, are disqualified from participating in any sports.

In the new study, the investigators reported on their experience with 353 patients age 6 to 40 with long LQTS who were evaluated initially between 2000 and 2010.  The majority of these patients–223–were not involved in sports or chose not to pursue their sports after their disease ws diagnosed.  The focus of the study was on the remaining 130 athlete-patients:  60 male and 70 female athletes; 20 had an ICD.

Among the 130 athlete-patients, 70 were asymptomatic (participating in sports contrary to the ESC guidelines but within the Bethesda guidelines).  The remaining 60 were symptomatic (and were participating in sports contrary to both sets of guidelines).

In follow-up that averaged 5.5 +/- 3.4 years, the authors reported that there was only 1 adverse event among the 130 athlete-patients–in one of the symptomatic patients (age 9) with an ICD who had an appropriate shock for a potentially fatal arrhythmia.  Among the asymptomatic patients, there were no adverse events.

Conclusions and Implications

1.  It’s important to remember that the vast majority of athlete-patients in this study were children and the findings may or may not extend to adult athletes with LQTS.  Further investigation is needed in the adult athlete population with LQTS.

2.  The current Bethesda and ESC guidelines for LQTS may be too restrictive, given the findings among the athlete-patients who continued their sports contrary to the 2005 guidelines.  In this study, these patients rarely had adverse events.

3.  It is still important for careful discussions regarding risk stratification (which may depend upon the precise genetic defect) and consideration of all treatment options before making decisions about continued participation in sports.

Related posts:

1.  Long QT syndrome

2.  Index to all of the posts at AthletesHeart through 2012

Filed Under: Heart problems Tagged With: cardiac screening, congenital heart disease, pre-participation screening, sudden cardiac death

Long QT Syndrome

February 12, 2013 By Larry Creswell, MD Leave a Comment

 

Congenital long QT syndrome (LQTS) is an inherited condition that affects heart muscle cells and predisposes individuals to potentially fatal ventricular arrhythmias.  This condition manifests (usually) with a prolonged time interval between the Q and T waves of the EKG and the occurence of either syncope (blacking out due to an arrhythmia) or sudden cardiac death (SCD) that is usually triggered by emotional stress or exercise.

Genetics

Much progress has been made with our understanding of the genetics of LQTS.  At least 13 different, but related, responsible genetic defects have been identified.  They all affect ion channels in the cell membranes of heart muscle cells and affect the way that electrical impulses travel through the heart.  The 3 most common genetic types are LQT1 (accounting for 40-55% of patients), LQT2 (30-45%), and LQT3 (5-10%).  Because these genetic defects affect the ion channels, LQTS is sometimes called a “channelopathy.”

The prevalence is usually said to be approximately 1 per 2000 individuals.

The triggers for lethal and non-lethal cardiac events are different for the genetic subtypes.  For carriers of LQT1, the most common trigger is exercise.  For carriers of LQT2, exercise is an very uncommon trigger; emotion may be a trigger, but most events occur during sleep or rest without arousal.  For carriers of LQT3, few events are triggered by exercise or emotion.

Diagnosis

Most patients come to attention because of a known family history or because of an episode of cardiac syncope or SCD with successful resuscitation.

Most, but not all affected individuals will have prolongation of the QT interval on the EKG.  Even without genetic testing, the diagnosis is usually established using a set of diagnostic criteria organized into 3 sections that produce a “Priori-Schwartz score”:

EKG findings
QTc >= 480 msec [3 points]
QTc 460-479 msec [2 points]
QTc 450-459 msec, for men [1 point]
QTc 4th minute of recovery from exercise stress test >=480 msec [1 point]
Torsades-de-Pointes [2 points]
T-wave alternans [1 point]
Notched T wave in 3 leads [1 point]
Low heart rate for age [0.5 point]

Clinical history
Syncope [2 points]
With stress [1 point]
Without stress [1 point]
Congenital deafness [0.5 points]

Family history
Family members with definite LQTS1 [1 point]
Unexplained sudden cardiac death younger than age 30 in family member [0.5 point]

A score of 3.5 points indicates a high probability of LQTS.  Some authorities recommend genetic screening for individuals with scores of greater than 3.0 points.

Treatment

Left untreated, symptomatic patients with LQTS have a mortality rate of ~20% in the first year.

Medical therapy includes beta-blockers (eg, propranolol, nadolol).  The effectiveness of these medications may depend upon the genetic subtype, but further investigation is ongoing.

One potential surgical option is left cardiac sympathetic denervation (LCSD), a procedure where the ordinarily stimulatory sympathetic nerves are disrupted.  This operation can be performed either in an “open” approach or by a thoracoscopic approach.  In either case, the first several thoracic ganglia (nerves) are removed.  Studies have shown this technique to be effective, particularly among patients with cardiac events despite beta-blocker usage and among patients with problems of various sorts with an implantable cardioverter-defibrillator (ICD).

The ICD is the remaining treatment option.  A device is implanted that includes a computer, battery, and leads that are attached to the heart.  In the event of a potentially fatal arrhythmia, the device provides a shock to terminate the arrhythmia and restore the normal heart rhythm.

Athletes and LQTS

Consensus guidelines for athletes with LQTS are provided in the Proceedings of the 36th Bethesda Conference.  These guidelines recognize that there is not sufficient information (yet) to stratify the risk of SCD for the various genetic subtypes, so a single set of recommendations was offered:

1.  Activity should be restricted to low-intensity sports (eg, billiards, golf, curling, riflery) for athletes with LQTS who have had cardiac arrest or an episode of syncope.

2.  Asymptomatic athletes with prolongation of the QT interval on the EKG should be restricted to low-intensity sports.

3.  Asymptomatic athletes, who are known gene carriers, may participate fully in their sports.

4.  Athletes with an ICD should participate only in low-intensity sports and should avoid all situations where bodily injury might occur.

Related Posts

1.  Index to all of the posts at AthletesHeart

Filed Under: Heart problems Tagged With: cardiac screening, congenital heart disease, sudden cardiac death

Antonio Puerta, Soccer Player, 1984-2007

January 29, 2013 By Larry Creswell, MD Leave a Comment

 

Antonio Jose Puerta Perez was a left wing-back soccer player for the Seville Futbol Club.  On August 25, 2007, some 35 minutes into a game against Getafe, he collapsed on the field, first grabbing his chest, then kneeling and finally slumping to the ground:

http://www.youtube.com/watch?v=b6f6ohkUS-0

He regained consciousness and actually walked to the dressing room for further care.  There, he suffered cardiac arrest, received CPR, and was transported to the hospital.  Although he was successfully resuscitated at least twice, he died 3 days later from multi-organ failure.  He was 22 years old.

After autopsy, the cause of death was determined to be arrhythmogenic right ventricular dysplasia (ARVD), a known cause of sudden cardiac arrest in young athletes.

ARVD is characterized anatomically by fibrous and/or fatty replacement of normal muscle cells in the right ventricle, the chamber that pumps blood to the lungs.  This genetic condition affects approximately 1 per 10,000 Americans but as many as 40 per 10,000 Italians.  A handful of genetic defects affecting the cardiac protein, desmin (involved with connections between muscle cells), have been identified.

The diagnosis of ARVD can be difficult, but the presence of a family history of ventricular arrhythmias or sudden cardiac death may be a clue.  The EKG may be suggestive and there may be evidence of right ventricle enlargement or fatty deposition on echocardiogram, cardiac CT scan, or cardiac MRI.

Because of its association with sudden cardiac death, the consensus guidelines from the 36th Bethesda Conference on Eligibility Recommendations for Competitive Athletes With Cardiovascular Abnormalities advise that “athletes with probable or definite diagnosis of ARVC should be excluded from most competitive sports….”

Filed Under: Famous athletes with heart problems Tagged With: arvd, congenital heart disease, soccer, sudden cardiac death

  • 1
  • 2
  • Next Page »
 

Loading Comments...