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                                                                  for the faint
                                                                    of heart

                Jessica Martineau                             NYU Langone cardiogenetics researcher
           was just 25 years old when                                     Silvia Priori is identifying children and
          her heart stopped for the first              adults at risk for sudden cardiac death.
      time. A professional dancer, she was                        By Kyla DUnn
     rehearsing with a contemporary ballet                             Illustration by Aude VAn ryn
   company for an upcoming show. Caffeine
                                                                                  + spring 2009 13
                                                                              NYU PhYsiciaN
from a double latte was in her system, and she
  was still stressed and sleep deprived from a
week spent helping her boyfriend finish his graduate thesis. “I was exhausted,” she says,
   “but I was just going as hard as I could.” In the middle of her solo, she felt her heart
    race out of control. Suddenly, her muscles stopped obeying her commands. “Then,
     everything went black, and I hit the floor.” As she lay there turning white, Jessica
        had no pulse. Yet just as the paramedics arrived, charging up a defibrillator,
           her heart managed to restart on its own. Gradually, she recognized the
          crowd of dancers gathered around her. “I saw the looks of horror on all
            their faces, and I just burst into tears.” At the hospital, after a night
               of diagnostic tests, a cardiologist delivered the news: Jessica has
                 what is known as long QT syndrome, an inherited condition
                      that can lead to cardiac arrest—in which the heart’s
                    pumping rhythm goes suddenly awry before stopping
                      altogether. The cardiologist immediately put Jessica
                           on a beta blocker, a drug that dampens the
                          excitability of the heart. He also urged her to
                          get an implantable cardioverter defibrillator
                             (ICD). The small titanium box would sit
                                just below Jessica’s left collarbone,
                                     under the skin, with wires
                                    feeding down into her heart.
                                      If it detected a dangerous
                                      rhythm, it would deliver
                                          a revitalizing shock.
                                            To the dismay of
                                             all her doctors,

“On my frame, it would be very visible.          Sudden cardiac death kills                        second group of conditions, the physical
You could see the box sticking out, and          some 450,000 Americans                            structure of the heart looks completely
you’d see the scar,” she says. Even worse,       each year, and for people under                   normal. What’s abnormal is its flow of
for a dancer, the surgery would slice            40 years old, the leading cause is an             electrical current. A normal heart rhythm
through her pectoral muscles, restricting        inherited disorder such as Jessica’s.             relies on a very precisely timed opening
arm movement. “I really don’t want to go         Some of the deaths are high profile: the          and closing of ion channels—pores that
through that surgery every few years to          Olympic hopeful whose heart stops at              control the flow of electricity in and out
replace the battery,” she says. She fears        the beginning of a marathon, the college          of individual heart cells. Even a minor
device malfunctions, and a modification          basketball player whose heart stops on the change in how these channels function
to her body that she rejects as unnatural        court. Others are more private tragedies:         can create life-threatening problems.
—even freakish. “I’d rather live with            the young girl who dies when she is               Diagnosing these “channelopathies”
the risk of dying from this disorder             startled by a telephone                                               involves careful
than to have this alien machine in my            or a doorbell. In most                                                analysis of a patient’s
body that could potentially shock me             cases, a single defective                                             electrocardiogram
uncontrollably,” she says. “I know it’s          gene is to blame and                                                  (ECG), that familiar
irrational. But in the end, I’m the one who      has often been passed                                                 jagged tracing of the
has to live in this body.”                       down through many                                                     heart’s electrical activity.
   Jessica’s choice is extreme. “Clearly,        generations of a family                                                  Long QT syndrome,
anybody who has survived a cardiac               before anyone realizes                                                Jessica’s disease, is a
arrest should be implanted,” says Larry          they are at risk.                                                     channelopathy whose
Chinitz, M.D., associate professor of               “It is not by coincidence                                          symptoms emerge at
medicine and director of the Leon H.             that most of the families                                             times of stress, exercise,
Charney Heart Rhythm Center. Still,              here have long QT                                                     or emotion. Symptoms
he adds, there’s no denying that ICDs            syndrome,” Dr. Priori                                                 typically first appear in
can have serious drawbacks. “Younger             told a roomful of                                                     children and teenagers.
patients in general seem to have a higher        patients gathered at an                                               The syndrome’s name
rate of complications,” Dr. Chinitz              NYU-sponsored event                                                   comes from the portion
explains, ranging from infections to             in January. Discovered          Las Vegas showgirl Jessica            of a patient’s ECG
broken wires to inappropriate shocks,            in the late 1950s, it is the    Martineau has been diagnosed          called the “QT interval,”
“and many of the patients with these             best understood and most        with long QT syndrome.                which indicates how
genetic disorders are so young . . . 10          familiar of these diseases                                            long it takes the heart
years old or 15 years old.” Many will have       to physicians, so the most likely to be           cells to reset, electrically, in preparation
devices for their entire lives and discover      diagnosed. “Other such diseases are much          for the next beat. In patients like Jessica,
that they never need them. If a patient          more recent discoveries,” she continued,          this interval is too long. The highest-
has not yet had a cardiac arrest, says Dr.       and “until a couple of years ago were not         risk patients have an interval above 500
Chinitz, “it’s very difficult within a long      even in the textbook of cardiology.”              milliseconds. Jessica’s was 600. (Beta-
QT family to judge who’s at risk.”                  It is now clear that two distinct types of     blocker medication has since reduced
   Patients are starting to get better an-       inherited disease can cause cardiac arrest.       this somewhat.)
swers than ever before, however, since           In one group of conditions, the physical             Without the protection of an ICD, she
the creation of the new Cardiovascular           structure of the heart is abnormal. These         says, her doctors—including Sabrina
Genetics Program at NYU. The program is          so-called “cardiomyopathies” are visible          Wilbur, M.D., assistant professor of
directed by Silvia Priori, M.D., Ph.D., pro-     on an echocardiogram or an MRI. In the            medicine, who referred her to Dr.
fessor of medicine. “Dr. Priori and her team
are really the world’s leaders in exploring
the basis for some of these inherited heart
rhythm disorders,” says Glenn Fishman,
M.D., the William Goldring Professor of
Medicine, professor of physiology and
medicine and pharmacology, and director of
the Leon H. Charney Division of Cardiology.
“She and her team have seen literally thou-
sands of individuals and families at their
home base in Italy.”
   That expertise is crucial, as the
symptoms can be subtle enough to escape
detection even by seasoned cardiologists.
Since being recruited to NYU in 2008,
Dr. Priori and her team have been using
the newfound power of genetics not only
to diagnose these heart conditions, but to
help determine the best kind of treatment        Ion channels control how our heart muscle cells contract, and therefore the heart’s overall
for each patient. “This is really a vision for   pumping rhythm. The body’s instructions for building this particular ion channel (above)
the future,” Dr. Priori says. “We will see       consist of almost 15,000 DNA subunits: As, Cs, Gs and Ts. Yet a change to just one of them
                                                 can cause a fatal change in heart rhythm. The black arrow indicates where a G-nucleotide
more and more in cardiology and in other         (black peak) has mistakenly converted to an A-nucleotide (green peak) on one of the
branches of medicine related to genetics.”       patient’s chromosomes, making cardiac arrest likely.

14                                               NYU PhYsiciaN
                                                 + spring   2009
Priori—would prefer that she give up                                                                   noise should be evaluated by a heart
dancing. “For most long QT patients, they                                                              specialist. “Not everyone who faints once,”
recommend only moderate exercise,” Jessica                                                             says Dr. Priori. “But definitely the child
says, “and my life is anything but moderate.”                                                          who has repeated episodes, especially
For the past two years, Jessica has been                                                               associated with turning blue.” So should
working as a showgirl in Las Vegas.                                                                    families with a history of unexpected,
During the 12 shows she does each week, a                                                              unexplained sudden death. This might
defibrillator sits at her dressing table.                                                              include drownings, mysterious single-
   Doctors’ concerns proved justified                                                                  car accidents, or sudden infant death
when—a year and a half after her first                                                                 syndrome (SIDS). “At least 10 percent of
cardiac arrest—Jessica’s heart stopped                                                                 these unexplained deaths in the first year
again. Her boyfriend had just proposed,                                                                of life are caused by one of these genetic
and to celebrate, she went to her favorite                                                             diseases,” says Dr. Priori.
café in SoHo for a hot chocolate. She had                                                                 In hindsight, Jessica sees that there
been too excited to sleep the night before                                                             were some warning signs. When she
and had eaten no dinner. Fueled only                                                                   was an infant, the noise of a train going
by sugar and caffeine, she stopped by                                                                  by once caused her to pass out in her
a friend’s house to announce the news.                                                                 mother’s arms. During college, she could
“She saw my ring and she screamed,”             Silvia Priori, M.D., Ph.D.                             feel her heart racing when she drank too
Jessica recalls. “And the scream set off my                                                            much coffee during the stress of finals.
arrhythmia.” Jessica’s new fiancé could         change her mind about an ICD, they                     Concerned, she finally went to the campus
not detect a pulse as he phoned for an          could also help her better understand                  health clinic. When her ECG came back
ambulance. Once again, however, Jessica’s       which situations to avoid. “I’d like to                abnormal, however, “they said, ‘It’s
heart restarted on its own. “My doctors         know if it was the caffeine that triggered             probably just the caffeine—don’t worry
have said that basically it’s just luck that    my cardiac arrest, or if it was really the             about it,’ ” she recalls.
that happened,” Jessica says. “They say a       loud noise,” she says. LQT1 patients, Dr.                 Because so many cases go unrecog-
third of people who have an episode come        Priori explains, have most of their life-              nized, and cardiac arrests can happen
right back on their own, another third          threatening events during sports activity.             unexpectedly, SADS also focuses on
come back with defibrillation, and another      LQT3 patients, by contrast, tend to                    the critical first response: it urges all
third just don’t come back at all.”             experience heart arrhythmias at rest—so                schools and workplaces to have portable
                                                restricting their physical activity may not            defibrillators handy, and wants graduating
One goal of the Cardio-                         be as crucial. LQT2 patients often have                high school students to be trained in how to
vascular Genetics Program,                      arrythmias when startled by loud sounds:               use them, as well as in CPR.
says Dr. Priori, is to limit the use            a telephone ringing or an alarm clock                     Another need is for better
of ICDs as much as possible by better           going off. Knowing this, “we’ll advise                 communication within families. “A lot of
identifying who is at serious risk. “I have     them not to keep a telephone on the night              families don’t know their family history,”
seen the impact of genetics come into this      stand,” says Dr. Priori. “It’s a simple thing,         Pam Husband, a cofounder of The
field,” says Dr. Priori, who started seeing     but may play an important role.”                       Canadian SADS Foundation (www.sads.
long QT patients in the clinic even before         “That’s why I’m so passionate in saying             ca), observed at NYU’s January meeting.
the first gene was identified in 1995, “and     that patients with long QT syndrome should             Yet when patients start to ask questions
the field has just exploded.”                   get access to genetic testing,” Dr. Priori adds.       of their aunts, uncles, and grandparents,
   Long QT syndrome can result from             Coverage of the cost of the test will vary             “the initial response, ‘No family history of
defects in over a dozen different genes.        among some insurance companies, while                  sudden death,’ has actually become, ‘Yes,
The three most common forms of the              others will deny coverage altogether. What             we have a history of sudden death.’”
disease are conveniently named LQT1,            these companies need to understand, says                  In Jessica’s case, the dangerous
LQT2, and LQT3, each involving a                Dr. Priori, is that the value of genetic testing       gene clearly comes from her father’s
different gene. The likelihood of a life-       now goes far beyond identifying other                  side. Only recently did she learn that
threatening cardiac event follows a             affected family members or knowing if one’s            two generations ago a relative did die
simple formula: The longer a patient’s QT       children could inherit the disease. “That by           unexpectedly. “My grandfather’s brother,
interval, the greater the risk. However, two    itself is already very important. But really it’s      my dad’s uncle, died when he was 19 or
patients with the same QT interval can be       because the clinicians cannot do a good job of         20 when he was in the service,” she says.
distinguished by their genes. As it turns       treating that family unless they know if they          It’s quite possible that the cause was long
out, an LQT1 patient is at less risk than a     are dealing with an LQT1, 2, or 3.”                    QT syndrome. For years, Jessica had also
patient with LQT2 or LQT3. What’s more,                                                                heard vague talk of one of her father’s
LQT1 patients tend to respond well to beta      Half of all children who                               cousins having heart problems—but the
blockers, while patients with LQT2 and          die “suddenly” of a heart                              understanding that others might need to
LQT3 get less protection and may more           rhythm disorder first have                             be tested never worked its way through
often need an ICD. “These are important         symptoms that go unrecognized. One                     the family. “Now we realize that we both
distinctions,” says Dr. Priori , whose          goal of the Sudden Arrhythmia Death                    have the same thing,” Jessica says.
program is supported by a grant from the        Syndromes Foundation, or SADS (www.                       Since Jessica’s diagnosis, several
family of the late Harold Snyder.               sads.org), a patient advocacy group, is to             relatives have gone in for ECGs. One of
   “I’m anxious to get that genetic testing     raise awareness of these early warning                 her aunts, her father’s sister Cherie, is
done,” Jessica says. “It would give me a        signs. Children and teenagers who have                 definitely affected. Typically, a parent will
better idea of just how much danger I           a history of fainting during exercise,                 pass the diseased gene on to half of their
really am in.” Not only might the results       excitement, or when startled by a loud                 children, and Cherie has (continued on page 34)
                                                                                NYU PhYsiciaN
                                                                                     + spring   2009                                             15
Class Notes

williAm J. Cole, m.d. (’80), has been
                                                including vice president of healthcare
                                                quality improvement.
                                                niCole Sutton, m.d. (’98), and her hus-
                                                                                                   allergy products to antibiotics—can be
                                                                                                   life threatening to them. By prolonging
                                                                                                   the Qt interval, some of these drugs can
named Physician of the Year by the NYU          band, robert Sutton, are the proud parents         send people with long Qt syndrome into
Langone Medical Center Auxiliary and            of twin girls born on April 7, 2008.               cardiac arrest. For Jessica, familiarizing
was honored on October 27, 2008, at the                                                            herself with this list has become crucial.
auxiliary’s 50th anniversary celebration
at the Metropolitan Club.
roBert m. AAronSon, m.d. (’88), received
                                                gerArd J. tePedino, m.d. (’00), (’96 CAS)
                                                                                                      Family planning issues also loom large
                                                                                                   for everyone involved. One reason these
                                                                                                   genetic diseases continue to spread so
the 2008 Arizona Laureate Award from            and his wife, Jackie, welcomed the newest          widely throughout families is that people
the American College of Physicians (ACP),       addition to their family, a baby girl, on          have children before realizing they are
Arizona chapter. He is the executive            November 5, 2008.                                  affected. In many cases, parents barely
director of the tucson Hospitals Medical        diAnA lYnn ASChettino-mAnevitZ, m.d.               have time to process the tragedy of losing
Education Program, clinical associate           (’01), (’93 SteinhArdt), finished a fellow-        one child to long Qt syndrome before
professor of medicine at the University         ship in adolescent medicine at Schneider           learning that another of their children—or a
of Arizona, and associate director of the       Children’s Hospital and is now assistant           grandchild, or a sibling—is also at risk. “We
University of Arizona Internal Medicine         professor of clinical pediatrics in the            definitely want children,” Jessica says. “And
residency Program.                              Division of Adolescent Medicine at Stony           that’s something definitely to consider: Do
                                                Brook University.                                  we want a kid who has this heart condition?

JeSSiCA CooPer foltin, m.d. (’90), director
                                                ChirAg r. KAPAdiA, m.d. (’02), completed
                                                an endocrine fellowship at Children’s Hos-
                                                pital of Philadelphia in July 2008.
                                                                                                   So we’ve also considered adoption.”
                                                                                                      “the future is to try to cure these diseases,”
                                                                                                   Dr. Priori adds. the promise of gene therapy
of the Pediatric Emergency Medicine and         ChriStinA A. tennYSon, m.d. (’02), married         is that a physician may someday be able
transport Program at tisch Hospital, and        richard J. Naddeo on August 9, 2008,               to replace the defective gene in a patient’s
her husband, George Foltin, M.D., direc-        at St. Francis de Sales Church in Belle            heart with a healthy one. that type of cure,
tor of Pediatric Emergency Medicine at          Harbor, NY. She began working at New               however, is a long way off. In the meantime,
Bellevue Hospital, were honored by KiDS         York–Presbyterian Hospital in Manhat-              Dr. Priori’s team will continue to search for
of NYU at its Springfling Gala for their        tan in September 2008 after completing a           better drugs and therapies, and try to raise
contributions to both institutions.             fellowship in gastroenterology at Mount            the level of awareness among physicians.
in-KYu Yoon, m.d. (’93), is a lieutenant        Sinai School of Medicine. Her husband is           “We need to be proactive and reach out,” she
colonel in the army, serving as assistant       a counsel for the New York City Economic           says, “because every month, every year lost
chief of the Department of Virology at the      Development Corporation.                           can mean more victims of sudden cardiac
Armed Forces research Institute of Medi-
cal Sciences in Bangkok, thailand.
                                                JeAnine A. dAlY, m.d. (’03), and Andrew
                                                H. Gillette were married on August 30,
                                                                                                   death.”   •
riChArd A. fAlCone, Jr., m.d. (’95), m.P.h.,    2008 at the Woodbury Country Club in
is assistant professor of surgery in the Di-    Woodbury, NY. She is a chief resident in
vision of Pediatric and thoracic Surgery,       dermatology at the State University of New         Theo’s story
associate director of the Pediatric trauma      York Downstate Medical Center in Brook-            (continued from page 27) to do after she took
Program, and director of the Extracorpo-        lyn. Her husband is a marketing manager            Theo home. How to handle reflux? The
real Membrane Oxygenation Program at            at American Express in Manhattan.                  bassinet is on an incline—should I do that
Cincinnati Children’s Hospital Medical          riChA AgArwAl, m.d. (’05), married Dr.             at home? When they bathed Theo and the
Center.                                         rajiv Seth Swamy on October 4, 2008, at            other babies at night, they invited Audrey
fritZ frAnCoiS, m.d. (’97), (’07 m.S. med.)     the river East Art Center in Chicago. She          to come and observe. At first, Theo got a
’93 wSC, has been appointed assistant           is a fellow in cardiovascular medicine and         sponge bath, but eventually they put him
dean for academic affairs and diversity. He     her husband is chief resident for internal         in a round metal basin. “I hesitate to call it
completed his residency and gastroenter-        medicine at the University of Chicago              a tub,” she says, laughing.
ology fellowship at NYU. During his chief
residency, he created the Department of
                                                Medical Center         •                              Finally, theo was ready to go home. He
                                                                                                   was so ready that a nurse had nicknamed
Internal Medicine Organization for Nur-         Faint of heart                                     him Houdini. One day, she looked into his
turing Diversity (DIAMOND) to help with         (continued from page 15)                           crib and saw an empty blanket. theo was
resident recruitment, mentoring, develop-       five children. “They’ve all been screened, and     lying at the top of the bed, having shed the
ment, and retention.                            they don’t have it,” Jessica says. Yet genetic     blanket he was swaddled in as if it were a
AnthonY Shih, m.d. (’97), has rejoined          testing is the only way to know for sure. Even     cocoon he no longer needed.
IPrO, an independent quality improve-           family members with normal ECGs may in                On June 4, 119 days after he arrived in
ment and evaluation organization, as chief      fact be at risk: up to 35% of gene carriers have   the NICU, Audrey buckled her seven-
quality officer and vice president of strate-   no symptoms—and a normal Qt interval.              pounder into his car seat for the first time
gic planning. He spent the past two years          Even these “silent carriers” need               and carried him downstairs to the street
at the Commonwealth Fund, a national            to know their status so they can limit             where his father was waiting in the Jeep,
foundation working to improve U.S. health       aggressive physical activity. What’s more,         dreaming about teaching his boy to swim
system performance, and held senior-level       certain prescription and over-the-counter          and ride a bike, just as his father had
positions at IPrO from 2001 to 2006,            medications—ranging from cold and                  taught him.     •
34                                              NYU PhYsiciaN
                                                + spring   2009

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