Annie Julia Liberati was 22 years old when she died in her sleep with no symptoms from viral myocarditis. I never heard of viral myocarditis before.
Annie was a microbiologist applying to medical school. She was working and living in Blacksburg, Virginia. She just graduated with a dual major in both biology and microbiology from Virginia Tech.
She was coming home in two days to buy a new car. She was so excited. I spoke to her the day before. She had just completed a trip to visit her grandma in California and tour up to San Francisco. She attended a Steelers game and returned to Virginia. She went to work on Monday and Tuesday. She was perfectly fine.
She was so full of life, so bright, and with so much promise. At the Tech Lab she created a kit for third world countries to fight stomach viruses.
We were called on Wednesday, August 22 at 11:00 when Annie did not show up for work. An hour later were notified she passed away in her sleep. No symptoms, no warning, we were shocked and still are. I can not believe that our bright, vibrant, strong, Annie died. She was not sick, there was no warning.
The autopsy showed that her heart was inflamed and there was damage that compromised the electrical impulses. The cause of death was an arrhythmia caused by a virus.
She was bright, and beautiful, and wonderful. Our hearts are broken with sadness for a loss so deep.
Annie was youngest of 4 children. Her two brothers and sister were all 18 months apart, close in age, and close to each other.
She was so much fun, so full of life, and so witty. We all love her and miss her—her radiance, her wit, her warmth, and her joyful laughter.
Viral myocarditis does not even have spell check from google. I in 100,000 young, healthy people die unexpectedly from this insidious disease. Most people get a cold or a fever from a virus. In some people, and it is still not clear why, their autoimmune system joins the virus and attacks the heart. This is what happened to our wonderful Annie.
Currently, there are not indicators of whom or why some people get viral myocarditis.
Dr. Towbin from Baylor College does extensive research with viral myocarditis.
Annie will forever be in our hearts. Every second of every minute, we think of Annie. We love her and miss her and do not understand how a happy, healthy, young woman, so bright and wonderful and so loved could be gone.
. ________________________________________
Jeffrey A. Towbin, M.D Professor, Departments of Pediatrics and Molecular and Human Genetics Chief, Pediatric Cardiology Co-Director, Cardiovascular Genetics Clinic B.S., University of Cincinnati, 1974 M.S., University of Cincinnati, 1977 M.D., University of Cincinnati, 1982 Resident in Pediatrics, Children's Hospital Medical Center, Cincinnati, 1985 Fellow in Pediatric Cardiology, Baylor College of Medicine, 1989
Research Interests | Selected Publications | Contact Information New Window | Back to Search
RESEARCH INTERESTS: As a pediatric molecular cardiologist with clinical involvement in cardiomyopathy, cardiac transplantation, and cardiovascular genetics, my research interests are concerned with genetic and acquired myocardial disease, causes of sudden cardiac death, as well as genetic causes of congenital heart disease with or without associated clinical syndromes. The goal of my laboratory (The Phoebe Willingham Muzzy Pediatric Molecular Cardiology Laboratory) is to map, isolate, and characterize the genes responsible for familial cardiomyopathies in humans and in animal models, arrhythmia syndromes including Brugada syndrome and the long QT syndrome (LQTS), and congenital heart diseases, such as left heart obstructive disorders. Additionally, we have developed a molecular diagnostic approach to viral myocarditis. X-linked cardiomyopathy was first shown by our laboratory to be caused by dystrophin mutations. More recently, we identified mutations in the dystrophin-associated protein genes d-sarcoglycan and a-dystrobrevin as causes of autosomal dominant dilated cardiomyopathy and LV noncompaction, respectively. We are currently studying many families with familial dilated cardiomyopathy, familial LV noncompaction, familial restrictive cardiomyopathy, and arrhythmogenic RV dysplasia for the causative genes.
Myocarditis is generally caused by viral infection of the heart, leading to acute cardiac decompensation. The diagnosis is presently made histologically via cardiac biopsy but has both a high false negative and false positive rate. Molecular diagnosis of viral genome in cardiac biopsy samples is presently being studied and is expected to provide improved diagnostic capability and potentially improved therapy. In the past, coxsackieviruses have been considered the major cause of disease.Thus far, approximately 500 samples have been analyzed using seven viral PCR primer sets, allowing for specific viral diagnosis, leading to identification of other important viruses causing myocarditis. The tests are now offered as a diagnostic service by the John Welsh Cardiovascular Diagnostic Laboratory.
Approximately 35 percent of cases have been found to be PCR-positive, with adenovirus the most common etiologic agent and the enteroviruses (including Coxsackie) second in frequency. We have made similar findings in patients with heart transplants, associated with rejection. Detailed analysis of the mechanism of adenoviral pathogenesis is underway.
Cardiac arrhythmias are commonly familial, particularly in long QT syndrome and Brugada syndrome. Mutations in multiple ion channel genes have been identified by our group and others. We currently are evaluating families for mutations in novel genes in patients with these disorders, as well as in other arrhythmia disorders.
Finally, the genetic basis of congenital heart diseases is under evaluation. In particular, left heart obstructions are being studied, as are several disorders of the right side of the heart. We anticipate the identification of several new genes coming from these studies. Back to top
SELECTED PUBLICATIONS: 1. Basso C, Fox PR, Meurs KM, Towbin JA, Spier AW, Calabrese F, Maron BJ, Thiene G (2004). Arrhythmogenic Right Ventricular Cardiomyopathy Causing Sudden Cardiac Death in Boxer Dogs. A New Animal Model of Human Disease. Circulation 109: 1180-1185. 2. Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss H-P, McCarthy R, Hare J, Bricker JT, Bowles KR, Towbin JA (2003). Detection of viruses in myocardial tissues by polymerase chain reaction: Evidence of adenovirus as a common cause of myocarditis in children and adults. J. Am. Coll. Cardiol. 42: 466-472. 3. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin J-H, Vu T, Zhou Q, Bowles KR, DiLenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA (2003). Mutations in Cypher/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction. J. Am. Coll. Cardiol. 42: 2014-2027. 4. Vatta M, Stetson SJ, Torre-Amione G, Pauschinger M, Bowles NE, Towbin JA (2002). Selective disruption of the N-terminus of dystrophin in end-stage cardiomyopathies: A final common pathway of cardiac dysfunction. Lancet 359: 936-941. 5. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA (2002). Genetic and Biophysical Basis of Sudden Unexplained Nocturnal Death Syndrome (SUNDS), a Disease Allelic to Brugada Syndrome. Hum. Mol. Genet. 11: 337-345. 6. Feng J, Yan JY, Buzin CH, Sommer SS, Towbin JA (2002). Comprehensive Mutation Scanning of the Dystrophin Gene in Patients with Nonsyndromic X-Linked Dilated Cardiomyopathy. J. Am. Coll. Cardiol. 40: 1120-1124. 7. Towbin JA, Bowles NE (2002). The Failing Heart. Nature 415: 227-233. 8. Towbin JA, Bowles NE (2001). Sarcoglycan, The Heart, and Skeletal Muscles: New Treatment Old Drug? J. Clin. Invest. 107: 153-154. 9. Shirali GS, Ni J, Chinnock RE, Vander Dussen LK, Johnson JK, Bowles NB, Towbin JA (2001). Association of Viral Genome with Transplant Coronary Arteriopathy and Graft Loss in Children Following Cardiac Transplantation: Identification Using PCR. N. Engl. J. Med. 344: 1498-1503, 1545-1547. For more publications, see listing on Pub Med. Back to top
CONTACT INFORMATION: Jeffrey A. Towbin, M.D. Chief, Pediatric Cardiology Texas Children's Hospital 6621 Fannin Street, MC 19345-C Houston, TX 77030, USA Mail Stop: MC 19345-C Telephone: 832-826-5651 Fax: 832-925-5921
Posted on behalf of Elaine Liberati
Annie Julia Liberati was 22 years old when she died in her sleep with no
symptoms from viral myocarditis. I never heard of viral myocarditis
before.
Annie was a microbiologist applying to medical school. She was working
and living in Blacksburg, Virginia. She just graduated with a dual major
in both biology and microbiology from Virginia Tech.
She was coming home in two days to buy a new car. She was so excited.
I spoke to her the day before. She had just completed a trip to visit her
grandma in California and tour up to San Francisco. She attended a
Steelers game and returned to Virginia. She went to work on Monday and
Tuesday. She was perfectly fine.
She was so full of life, so bright, and with so much promise. At the Tech
Lab she created a kit for third world countries to fight stomach viruses.
We were called on Wednesday, August 22 at 11:00 when Annie did not show up
for work. An hour later were notified she passed away in her sleep. No
symptoms, no warning, we were shocked and still are. I can not believe
that our bright, vibrant, strong, Annie died. She was not sick, there was
no warning.
The autopsy showed that her heart was inflamed and there was damage that
compromised the electrical impulses. The cause of death was an
arrhythmia caused by a virus.
She was bright, and beautiful, and wonderful. Our hearts are broken with
sadness for a loss so deep.
Annie was youngest of 4 children. Her two brothers and sister were all 18
months apart, close in age, and close to each other.
She was so much fun, so full of life, and so witty. We all love her and
miss her—her radiance, her wit, her warmth, and her joyful laughter.
Viral myocarditis does not even have spell check from google. I in
100,000 young, healthy people die unexpectedly from this insidious
disease. Most people get a cold or a fever from a virus. In some people,
and it is still not clear why, their autoimmune system joins the virus and
attacks the heart. This is what happened to our wonderful Annie.
Currently, there are not indicators of whom or why some people get viral
myocarditis.
Dr. Towbin from Baylor College does extensive research with viral
myocarditis.
Annie will forever be in our hearts. Every second of every minute, we
think of Annie. We love her and miss her and do not understand how a
happy, healthy, young woman, so bright and wonderful and so loved could be
gone.
.
________________________________________
Jeffrey A. Towbin, M.D Professor, Departments of Pediatrics and Molecular
and Human Genetics
Chief, Pediatric Cardiology
Co-Director, Cardiovascular Genetics Clinic
B.S., University of Cincinnati, 1974
M.S., University of Cincinnati, 1977
M.D., University of Cincinnati, 1982
Resident in Pediatrics, Children's Hospital Medical Center, Cincinnati,
1985
Fellow in Pediatric Cardiology, Baylor College of Medicine, 1989
Research Interests | Selected Publications | Contact Information New
Window | Back to Search
RESEARCH INTERESTS:
As a pediatric molecular cardiologist with clinical involvement in
cardiomyopathy, cardiac transplantation, and cardiovascular genetics, my
research interests are concerned with genetic and acquired myocardial
disease, causes of sudden cardiac death, as well as genetic causes of
congenital heart disease with or without associated clinical syndromes.
The goal of my laboratory (The Phoebe Willingham Muzzy Pediatric Molecular
Cardiology Laboratory) is to map, isolate, and characterize the genes
responsible for familial cardiomyopathies in humans and in animal models,
arrhythmia syndromes including Brugada syndrome and the long QT syndrome
(LQTS), and congenital heart diseases, such as left heart obstructive
disorders. Additionally, we have developed a molecular diagnostic approach
to viral myocarditis.
X-linked cardiomyopathy was first shown by our laboratory to be caused by
dystrophin mutations. More recently, we identified mutations in the
dystrophin-associated protein genes d-sarcoglycan and a-dystrobrevin as
causes of autosomal dominant dilated cardiomyopathy and LV noncompaction,
respectively. We are currently studying many families with familial
dilated cardiomyopathy, familial LV noncompaction, familial restrictive
cardiomyopathy, and arrhythmogenic RV dysplasia for the causative genes.
Myocarditis is generally caused by viral infection of the heart, leading
to acute cardiac decompensation. The diagnosis is presently made
histologically via cardiac biopsy but has both a high false negative and
false positive rate. Molecular diagnosis of viral genome in cardiac biopsy
samples is presently being studied and is expected to provide improved
diagnostic capability and potentially improved therapy. In the past,
coxsackieviruses have been considered the major cause of disease.Thus far,
approximately 500 samples have been analyzed using seven viral PCR primer
sets, allowing for specific viral diagnosis, leading to identification of
other important viruses causing myocarditis. The tests are now offered as
a diagnostic service by the John Welsh Cardiovascular Diagnostic
Laboratory.
Approximately 35 percent of cases have been found to be PCR-positive, with
adenovirus the most common etiologic agent and the enteroviruses (including
Coxsackie) second in frequency. We have made similar findings in patients
with heart transplants, associated with rejection. Detailed analysis of
the mechanism of adenoviral pathogenesis is underway.
Cardiac arrhythmias are commonly familial, particularly in long QT
syndrome and Brugada syndrome. Mutations in multiple ion channel genes
have been identified by our group and others. We currently are evaluating
families for mutations in novel genes in patients with these disorders, as
well as in other arrhythmia disorders.
Finally, the genetic basis of congenital heart diseases is under
evaluation. In particular, left heart obstructions are being studied, as
are several disorders of the right side of the heart. We anticipate the
identification of several new genes coming from these studies.
Back to top
SELECTED PUBLICATIONS:
1. Basso C, Fox PR, Meurs KM, Towbin JA, Spier AW, Calabrese F, Maron BJ,
Thiene G (2004). Arrhythmogenic Right Ventricular Cardiomyopathy Causing
Sudden Cardiac Death in Boxer Dogs. A New Animal Model of Human Disease.
Circulation 109: 1180-1185.
2. Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss H-P, McCarthy
R, Hare J, Bricker JT, Bowles KR, Towbin JA (2003). Detection of viruses
in myocardial tissues by polymerase chain reaction: Evidence of adenovirus
as a common cause of myocarditis in children and adults. J. Am. Coll.
Cardiol. 42: 466-472.
3. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z,
Sinagra G, Lin J-H, Vu T, Zhou Q, Bowles KR, DiLenarda A, Schimmenti L,
Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J,
Valle G, Towbin JA (2003). Mutations in Cypher/ZASP in Patients with
Dilated Cardiomyopathy and Left Ventricular Non-Compaction. J. Am. Coll.
Cardiol. 42: 2014-2027.
4. Vatta M, Stetson SJ, Torre-Amione G, Pauschinger M, Bowles NE, Towbin
JA (2002). Selective disruption of the N-terminus of dystrophin in
end-stage cardiomyopathies: A final common pathway of cardiac dysfunction.
Lancet 359: 936-941.
5. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N,
Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P,
Antzelevitch C, Towbin JA (2002). Genetic and Biophysical Basis of Sudden
Unexplained Nocturnal Death Syndrome (SUNDS), a Disease Allelic to Brugada
Syndrome. Hum. Mol. Genet. 11: 337-345.
6. Feng J, Yan JY, Buzin CH, Sommer SS, Towbin JA (2002). Comprehensive
Mutation Scanning of the Dystrophin Gene in Patients with Nonsyndromic
X-Linked Dilated Cardiomyopathy. J. Am. Coll. Cardiol. 40: 1120-1124.
7. Towbin JA, Bowles NE (2002). The Failing Heart. Nature 415: 227-233.
8. Towbin JA, Bowles NE (2001). Sarcoglycan, The Heart, and Skeletal
Muscles: New Treatment Old Drug? J. Clin. Invest. 107: 153-154.
9. Shirali GS, Ni J, Chinnock RE, Vander Dussen LK, Johnson JK, Bowles NB,
Towbin JA (2001). Association of Viral Genome with Transplant Coronary
Arteriopathy and Graft Loss in Children Following Cardiac Transplantation:
Identification Using PCR. N. Engl. J. Med. 344: 1498-1503, 1545-1547.
For more publications, see listing on Pub Med.
Back to top
CONTACT INFORMATION:
Jeffrey A. Towbin, M.D.
Chief, Pediatric Cardiology
Texas Children's Hospital
6621 Fannin Street, MC 19345-C
Houston, TX 77030, USA
Mail Stop: MC 19345-C
Telephone: 832-826-5651
Fax: 832-925-5921