What I\u27d like to do in the next 10 or 15 minutes is use a case approach which we all use in medicine as you use in law to give you a flavor for how we as clinicians think about things that are oftentimes obviously genetic. But I want to stress to you that probably a day does not go by or a patient does not go by where I don\u27t think in terms of genetic issues for their cardiovascular health

Zahka, Kenneth G.

English

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Cleveland State University
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Journal of Law and Health Law Journals
2001
Cardiovascular Genetics: Case Studies
Kenneth G. Zahka
Case Western Reserve
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Kenneth G. Zahka, Cardiovascular Genetics: Case Studies, 16 J.L. & Health 3 (2001-2002)
3 
CARDIOVASCULAR GENETICS:  CASE STUDIES 
KENNETH G. ZAHKA1 
 
It’s really a pleasure to be here.  I want to thank Kathleen [Engel] and Dena 
[Davis] for inviting me.  As I was thinking about how I was going to start this off, I 
absolutely promised myself I wasn’t going to say anything about lawyers.  I’m 
actually quite anxious, because this is, in fact, the first time I’ve spoken to a group of 
lawyers.  It is, however, of course, not the first time I’ve spoken in front of lawyers, 
and I wasn’t going to say anything until the court stenographer was here, and it does 
send chills up and down my spine.  
So I promised myself I wasn’t going to say anything, I was going to be really 
good, but I had to.  
Now, the question is, why am I on the panel, and my sense of why I’m on this 
panel is to give you some grounding about how this all gets found out, why is this a 
problem, and keep in mind that I am here as a clinician, somebody who takes care of 
patients, and somebody who is either one step removed from your primary care 
provider or sometimes I get direct referrals from a family or so forth directly asking 
me to evaluate their cardiovascular problem, usually in their children or if they have 
concerns about an inherited cardiovascular problem they’ll come and see me, and 
then very frequently I will see a problem that I will then seek the help of a geneticist.  
And when Dr. Wiesner speaks a little bit later today, you’ll hear from somebody who 
is a geneticist who only very occasionally gets direct referrals but is always in a 
position of trying to understand the genetic basis of disease’s based on the 
observations of other health professionals that tend to funnel patients to her.   
So I’m going to try to give you how I think of genetic disease as a clinician and 
what you might expect your physicians to think about or what you might expect the 
health professionals and companies to be thinking about as they look at patients.   
The next thing I want to say before we start off with the slides is that it’s very 
important to realize that there is an enormous variety of humanity and that variety is 
also based on our environment.  
I think it is fair to say that as much as I will try, I can never play professional 
basketball.  I could try every day to exercise and practice and practice and there’s no 
way that I would be in the NBA, and perhaps one in contrast could say that there 
would be nobody in the NBA or there would be few people in the NBA who could 
do pediatric cardiology and there are some people who are very gifted in language 
and others who are not.   
So there’s a huge variety of humanity, some of which is genetically based, some 
of which is environmentally based, and our understanding about how they interplay 
is really now only at a very basic level.  
                                                                
1Kenneth G. Zahka (M.D., Johns Hopkins) is Chief of the Division of Pediatric 
Cardiology at University Hospitals and Professor of Pediatrics at Case Western Reserve 
University School of Medicine.  Dr. Zahka’s research areas include heritable cardiac 
disorders. 
4 JOURNAL OF LAW AND HEALTH [Vol. 16:3 
And, for example, the complexity of all of us is extraordinary.  How our genes 
carry out instructions is very complicated, and so it’s not like having a Pentium or 
one gigahertz memory chip.  We’re not all exactly the same and we can’t all be 
expected to be the same.  
And that leads to another important thing to think about during today from a 
clinician standpoint, and that is something that Commissioner Miller brought up 
yesterday: What is asymptomatic?  And what is ‘sick’?  These are not black and 
white questions, and it’s very important to realize that what are symptoms to one 
person are normal to another, and what represents illness to one person is just the 
normal everyday facts of life for another person, and it’s not anything that is black 
and white.   
Also remember that everyone has risk, and that risk may be through behavioral 
things.  I enjoy riding my bike and I enjoy riding my bike very fast, and about four 
years ago I hit a rut in the road and flew over the handlebars at 25 miles an hour and 
broke my arm and broke six ribs and had a concussion.  I could have broken my neck 
and in that instant would have been forever changed.  But the fact of the matter is, 
that the behavior of riding my bike at very fast speeds, in fact, put me at some risk, 
perhaps at greater risk than all of my genes put together.  
Lifestyle.  I don’t know if any of you smoke.  Smoking is a choice that clearly 
puts us at risk for health problems, significant cardiovascular health problems, and 
then, yes, we all have our genes.  We can’t change our genes usually, but maybe 
sometime in the future we can.  
And then the other things we would like you to think about, at least from a 
clinician’s standpoint is that we make choices in our society, and, in fact, I would 
think we already sanctioned some forms of genetic testing, and Georgia [Weisner, 
M.D.] may disagree with me, but, for example, when I had my life insurance 
physical, they drew my blood for cholesterol.  Now, God knows what else they drew 
it for because I signed the form without actually reading it.  Maybe I signed off that 
they could run my whole human genome.  I actually don’t know.  I just trusted them 
that they did my cholesterol.   
Well, clearly my cholesterol is related to my diet and my activities, but it has a 
very strong genetic component to it.  So they did, in fact, do a component of genetic 
testing on me, not at a terribly sophisticated level, but at a level that would allow 
them to make some decisions about where to rank me, and we allow the life 
insurance companies to make decisions based on that form of genetic testing, at least 
in the very simplistic way I see as a clinician that would have allowed them to 
disadvantage me with regard to how much I paid for life insurance or maybe whether 
I had life insurance at all.  
What I’d like to do in the next 10 or 15 minutes is use a case approach which we 
all use in medicine as you use in law to give you a flavor for how we as clinicians 
think about things that are oftentimes obviously genetic.  But I want to stress to you 
that probably a day does not go by or a patient does not go by where I don’t think in 
terms of genetic issues for their cardiovascular health. 
Well, how does a doctor, how does a clinician, think about genetic problems?  
Well, one thing may be just in terms of history.  You don’t need extensive 
sophisticated genetic testing.  It may be that somebody has some particular symptom 
or there’s an enormous richness in your family history.  What kind of heart defects 
were in your family?  What kind of blood vessel problems were in your family?  
That can give us a real clue as to what kinds of problems might be present from a 
2001-02] CARDIOVASUCLAR GENETICS:  CASE STUDIES 5 
cardiovascular standpoint, and that’s just one small area.  It happens to be my 
particular interest.  
Well, there may be things that are obvious when your physician examines you.  
There may be some very distinctive features that you never realized that tip them off 
that, yes, you have a genetic problem.  I’m not talking about obvious things that you 
might be aware of, such as Downs syndrome.  I’m talking about various subtle 
things.   
There may be routine laboratory tests, and I’ll go back to the cholesterol test as 
an example.  If you have a cholesterol of 5 or 600, that means you have a genetic 
abnormality in how cholesterol is taken care of in your body, and it’s a clear sign of 
that. 
Increasingly the patients and/or their parents bring things up.  There are very 
frequent media stories, some of them accurate, some of them not so accurate, some 
of them overstating, some of them, in fact, understating important health issues, and 
never, ever underestimate as a clinician the power of the Internet to raise questions 
and occasionally answer questions for families.  It is not unusual for me to have a 
family say, “I saw on the Internet X, Y or Z, what do you think?”  
Let me go through few cases.  Now, some of this will be doctor speak, and I can 
assure you the doctor speak is not the important part and these are true cases, and I 
do believe that many of the people who I’m talking about today would be proud to 
have you learn about their problems.  “Tommy” is a 28-year-old who I took care of 
when I was in Baltimore and he had a repaired congenital heart defect, a defect in his 
heart that he was born with.  It happens to be called “tetralogy of Fallot,” and as 
frequently is the case, he brings his fiancé to his yearly checkup.  This is actually 
always an interesting sign when our adult patients who are born with a congenital 
heart disease instead of bringing their mom and dad bring their fiancé, and you 
always know that you’re in for a, we have to have some serious talk here, and she’s 
very eager to learn about his heart problem and discuss the risk of their having a 
baby with a similar problem.  
“Tommy” really had no other medical problems.  He’s a great guy, he graduated 
from college, but he really struggled in college.  He does have some learning 
problems, and he’s currently working for a sports marketing firm, which I think a 
couple of months ago actually went out of business. 
Now, he does have a genetic problem, however, most heart defects are not 
strictly genetic.  As I said, some are obviously genetic.  There are many children 
with Downs syndrome who are born with heart defects, but we are increasingly able 
to identify a number of chromosome problems that we’ve never known before where 
there is a predisposition for heart disease, and Tommy has ‘partial deletion of 
Chromosome 22.’ 
Now, it’s not important that you know what ‘partial deletion of Chromosome 22’ 
is, but it is important as people interested in health discrimination and the law that 
you know what this may cause. 
First of all, there’s a 50 percent risk of offspring having congenital heart defect, 
having this particular chromosome problem and having learning problems.  Well, 
you say as an employer, “That’s no big deal.  That doesn’t affect Tommy, right?”  
But it does affect your health insurance and whether he’s going to be around.  
There’s clearly a risk that “Tommy” may miss work or have healthcare expenses, 
some of those may be related to fertility and pregnancy issues, and the possibility 
that he might need heart surgery in the future.  
6 JOURNAL OF LAW AND HEALTH [Vol. 16:3 
The next case is “JS,” he is a 22-year-old who passed out twice in his early teens.  
Each time he had a brief seizure.  Sometimes people seize when they pass out.  
Everybody said, “Oh, this is just simply fainting.”  He, however, had a cousin who 
died instantly while swimming.  This is a clue that might come from a history.  His 
physical examination is entirely normal.  This particular guy had something called 
“long QT syndrome,” in which the repolarization of the heart -- this is an 
electrocardiogram -- takes too long.  It’s a genetic disease that has a huge number of 
variations.  Sometimes people are totally asymptomatic from it, never pass out, never 
have heart rhythm problems, but sometimes the first indication that they have it is 
that they die suddenly, and clearly their offspring are at risk for having this as well. 
There is a risk of sudden death, there’s a need for chronic medication, need for 
implantable defibrillator, some risk to the offspring, and this all represents healthcare 
costs and potential other costs for you as employers.  
This happens to be my cousin, a 51-year-old who had exercise intolerance and 
dizziness since he was 18.  It turns out that he has a genetic problem called 
“hypertrophic cardiomyopathy,” which is something where the heart muscle is far 
too thick.  So you think, “Why does he have too much heart muscle?”  Well, the 
instruction manual for how to build the right amount of heart muscle wasn’t laid out 
right, but it took 18 years to manifest itself.  It turns out his mother has the same 
thing.  He is from Kansas City and had an unthinkable episode in Boston.  
He was admitted to Mass General, and his cardiologist wanted to try some 
number of new heart cath tracing procedure to help his heart, and I got in the loop 
because my mother called and said, “His insurance company doesn’t want to pay for 
it, what should he say?”  It turns out this guy was a very valuable employee for this 
company and because of that, the company went to bat for him.  
And there are clear long-term risks even for this, and for this company, all those 
medical problems clearly were outweighed by the fact that my cousin was a great 
employee, but, you know, there’s lots of stuff for him in the future.  
The last case is a 25-year-old who has been employed for three years by a local 
manufacturer to install shelving units to display its product in retail stores.  His 
brother at age 38 had emergency surgery last month to replace his aorta when it tore 
while he was doing some weight lifting, and his brother was diagnosed with Marfan 
syndrome.  “JR” has it as well.  Marfan syndrome is an autosomal dominant disorder 
of connective tissue.  
That’s doctor speak, but it just means something that comes from our genes.  It 
can be passed on to our children.  It has major abnormalities in a lot of other parts of 
our bodies, and we can oftentimes, but not all the time, diagnose it precisely.  
But the interesting thing with Marfan syndrome is with advances in medical and 
surgical treatment, people can live to in their 60’s and 70’s and have a very normal 
lifestyle.  
But there is a need for chronic medication.  There may well be a need for 
interventional surgical procedures.  There’s clearly a risk of having offspring with 
the same medical problems, and for those of you who are thinking, “How am I going 
to pay for all of this with my self-insured health plan.?”  You have to think about 
these issues.  
So in conclusion, I tried to set out some of the issues that we think of as 
clinicians.  How do people get to us?  How do we diagnose people?  Some of the 
issues are never black and white in medicine through some case presentations, which 
gives you a sense of just one tiny, tiny area of cardiovascular genetics.  
2001-02] CARDIOVASUCLAR GENETICS:  CASE STUDIES 7 
Remember, cardiology is not the center of the world.  There are huge numbers of 
different problems in medicine that are genetically oriented.  We have probably 
about 40,000 genes.  We don’t know what most of them do.  We don’t know how 
most of them are carried out.  We don’t know how the instructions are carried out 
very well.  
Some of these abnormal genes, which I presume someday we’ll be able to test 
for, are never clinically expressed, and so we still rely on clinical medicine in order 
to identify people who need genetic testing, who would benefit from genetic testing, 
and who need treatment based on that genetic testing.  
Now, I’m presuming that someday all of our advances in molecular biology are 
going to facilitate how we do these things and what they mean, and just think back 
40, 50 years ago.  No one ever thought, “Why should we measure cholesterol, what 
can we do about it?”  
Now, who would ever not think of measuring cholesterol?  Because either you 
can do dietary modifications, you can do Lipitor, and there are huge studies which 
document the benefit of cholesterol reduction, either by diet or by medication, and it 
took 10, 20, 30 years to figure that out, but we need to be able to proceed with that 
kind of evidence-based approach to medicine in order to be able to make this 
information valuable.  We can’t be afraid of it, but we have to know how to use it 
and we have to know how to use it in order to bring better health to our patients.  
8 JOURNAL OF LAW AND HEALTH [Vol. 16:3 
 


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