罹患主動脈血管剝離 加護病房三度進出 撿回一命 病痛纏身
Hopkins Medicine 2002-06-17
PART 1: SPOTTING THE SOMETIMES
40,000 Americans have Marfan Syndrome, an abnormal
condition of bone, connective tissue, and blood vessels. Marfan
is most visible among tall, athletic people, such as Flo Hyman,
the 6 foot 5 star of the 1984 U.S. Volleyball Team. Hyman died
of a ruptured aorta, a frequently fatal marker of Marfan. Diagnosing
the disease can be difficult. Johns Hopkins researcher Hal Dietz
says there's no biological marker for Marfan. And while height
can be a tip-off, it's all relative: Someone who is 5'6"
could be at risk if his or her parents are much shorter. Dietz
says the syndrome has many possible indicators, including a leaky
The combination, for example, of tall stature, loose joints, chest
wall abnormalities, curvature of the spine, early near-sightedness...any
of those in isolation can be common and innocent; when they're
seen in combination, Marfan Syndrome should be considered: 17
Tomorrow, a look at how Marfan can be successfully treated.
At the Johns Hopkins Medical Institutions, I'm Mat Edelson reporting.
SUCCESSFULLY TREATING THE DISEASE
Thirty years ago, experts agreed that most people with Marfan
Syndrome would have been lucky to reach age 50. The syndrome,
which strikes 1 in 5000 people, is most prevalent in long, lanky
individuals. Marfan indicates a weakening of connective tissues;
most dangerously in the aorta, which over time can stretch and
potentially burst. But now, Marfan can be successfully treated
with a variety of medical and surgical approaches. Johns Hopkins
Marfan researcher Hal Dietz:
The management principles include the use of medications to decrease
the stress pushing out on the aorta, restriction of certain activities,
and, most importantly, surgical repair of the aorta once it has
reached a critical size of about five centimeters: 19
Though Marfan is mostly inherited, at least 25% of cases involve
people with no prior family history. A
reliable genetic test for Marfan has not yet been developed.
At the Johns Hopkins Medical Institutions, I'm Mat Edelson reporting.
< 美國企業新聞社 > 2001-10-05
TV Tragedy on 'ER' Too Often Imitates Reality:
National Marfan Foundation Working to Save Lives Otherwise Lost
in Emergency Departments
PORT WASHINGTON, N.Y., Oct.
4 /PRNewswire/ -- According to the National
Marfan Foundation (NMF), patients with an aortic dissection
(a tear in the large artery carrying blood away from the heart),
such as the character on tonight's episode of "ER" (NBC-TV)
whose dissection is initially misdiagnosed and dies as a result,
can be saved if the correct diagnosis is made immediately and
appropriate treatment is instituted. For Lee Norton, the 21-year-old
who portrays the dying patient on "ER," this message
hits close to home because aortic dissection claimed the lives
of his brother, his uncle and his aunt.
Both Lee and his mother -- like his other relatives -- are affected
by the Marfan syndrome, a genetic disorder of connective tissue,
which increases the risk of aortic dissection 100-fold. Other
risk factors for aortic dissection are high blood pressure, bucuspid
aortic valves and Turner syndrome (a chromosomal disorder that
can affect women).
"In my family, it took the death of my 15-year-old brother
for us to learn about the Marfan syndrome, but it's not too late
for others," said Lee, currently a student at the University
of Utah whose diagnosis led to his interest in becoming a cardiothoracic
surgeon. "I hope viewers realize that someone with the Marfan
syndrome can appear very 'normal' until disaster strikes. By recognizing
the characteristics of the disorder, people can seek diagnosis
and treatment, and doctors can recognize a potential crisis before
Limited Suspicion of Aortic
Dissection Leads to Deaths
Due to limited awareness or lack of suspicion of an aortic dissection
among medical professionals, tragic cases continue to be reported
to the NMF in which relatively young individuals have chest pains
that are misdiagnosed in a hospital by emergency physicians and
subsequently die of an aortic dissection. The most high profile
case was the death of Tony Award-winning Rent playwright, Jonathan
Larson, who was sent home from two different New York City hospitals
-- one diagnosed him with the flu, the other food poisoning --
only for him to die alone in his apartment of an aortic dissection
before his hit play opened on Broadway.
Larson, like many people who have the Marfan syndrome, exhibited
many outward signs of the disorder, which include tall stature
(or taller than other members of their family); disproportionately
long arms, legs, fingers and toes; protruding or sunken chestbone;
armspan greater than height; scolosis; nearsightedness; and flat
feet. Every year many people with the Marfan syndrome and previously
unrecognized aortic aneurysms require emergency surgery for acute
dissection or sustain fatal rupture before surgery can be performed.
Not infrequently such patients had skeletal or ocular changes
diagnostic of the Marfan syndrome that were not recognized by
the patients' physicians(1).
"Ideally, people who are affected by the Marfan syndrome
have their aorta monitored yearly to detect aortic enlargement,
the precursor to aortic dissection, and take medications to slow
the progression of enlargement. The problem is that tens of thousands
of people in the U.S. who have the Marfan syndrome are not diagnosed.
For them, an aortic dissection can happen at any time, without
notice," said Richard Devereux, M.D., Professor of Medicine,
Weill Cornell Medical College-New York Presbyterian Hospital.
"It is incumbent upon the emergency physicians to consider
aortic dissection in people who present in the emergency room
with chest pain, especially if they exhibit the typical physical
signs of the Marfan syndrome and other diagnostic possibilities
cannot be confirmed."
The NMF's Emergency Medicine Campaign
Preventing these avoidable deaths is the objective of the NMF's
Emergency Medicine Campaign, which was developed with the support
of the family of Jonathan Larson. The goal is to educate emergency
room personnel about the risk factors for aortic dissection and
how to correctly recognize, diagnose and treat a dissection.
In conjunction with the "ER" episode, the Foundation
is launching a new continuing medical education (CME) video program
about the emergency diagnosis and treatment of aortic dissection,
accredited by Washington University School of Medicine in St.
Louis. Accompanying the video are materials developed by the NMF
in cooperation with the New York State Department of Health as
part of the medical education initiative instituted following
the State's investigation into the death of Larson. These include
a booklet for physicians, a four-color poster for non-patient
areas in the hospital emergency department and an educational
advisory for pre-hospital providers (i.e., emergency medical technicians),
which was devised by New York's State Emergency Medical Advisory
Recognizing and Treating Aortic Dissection
Although aortic dissection is uncommon, it is not rare. Based
on available medical information, there are approximately 5,000-10,000
dissections per year in the U.S., but experts believe that the
number may be underreported because dissections that do not result
in death or cardiovascular surgery may be recorded under a different
diagnosis, such as chest or abdominal pain. In addition, because
so few autopsies are conducted, many deaths are attributed to
"heart attack" or "sudden death" when the
cause is actually an aortic dissection.
An aortic dissection that doesn't stop tearing will ultimately
become a fatal rupture. In fact, there is a fatality rate of more
than 90 percent associated with acute aortic dissection originating
near the heart without urgent surgical intervention by an experienced
The primary symptom of an aortic dissection is severe pain, usually
in the chest, but occasionally in the abdomen when the tear begins
in the lower part of the aorta. Other signs are pallor, pulselessness,
parathesiae and paralysis. An imaging study of the aorta -- a
standard echocardiogram, magnetic resonance imaging (MRI), computed
tomographic (CT) scan or transesophogeal echocardiogram -- can
confirm or disprove the diagnosis. A standard chest x-ray cannot
be considered conclusive in identifying an aortic dissection.
Upon diagnosis of a dissection, medications are prescribed to
lower the blood pressure and slow the pulse. In a dissection that
starts away from the heart, if the blood pressure stabilizes,
the pain stops and there's no compromise of blood flow to the
organs, then surgery can be avoided. However, symptomatic ascending
aortic dissections or aneurysms do require emergency surgery.
According to a study published in the New England Journal of Medicine,
while elective aortic surgery has an operative mortality rate
of 1.5 percent, emergency aortic repair has an operative mortality
rate of 12 percent(2). Despite the increased risk during emergency
surgery, lead investigator Vincent Gott, M.D., Johns Hopkins Hospital,
emphasized the need for emergency room physicians to consider
Marfan syndrome when diagnosing very tall patients who come to
the hospital complaining of chest pains.
The Marfan Syndrome
The Marfan syndrome and related connective tissue disorders affect
approximately 200,000 people in the U.S. The Marfan syndrome --
which is named for the French pediatrician, Dr. Antoine Marfan,
who first identified the disorder in 1896 -- is inherited from
an affected parent in 75 percent of cases. However, one-quarter
of cases result from a spontaneous mutation at conception. Although
the gene for the disorder has been found, there is no simple genetic
test to make the diagnosis. A complete examination, including
an echocardiogram of the heart by a cardiologist, measurement
of body proportions by a geneticist or orthopedist and a slit
lamp eye exam by an ophthalmologist, remains the most effective
and reliable method for diagnosis.
Once the Marfan syndrome is confirmed, medication can lessen the
strain on the aorta and proper monitoring can ensure that surgery
is done early to prevent a fatal aortic rupture. With an early
diagnosis, proper treatment and a modified lifestyle, most people
with the Marfan syndrome can hope to live a normal life span.
National Marfan Foundation
The NMF was founded in 1981 to provide accurate and timely information
about the disorder to patients, family members and physicians;
to serve as a resource for medical information and patient support;
and to support and foster research.