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Cardiogenetics

Prevention of SIDS and SUDS in High-Risk Patients

The Montefiore Einstein Center for CardioGenetics (MECC) is the first center in the New York metropolitan area to offer state-of-the-art testing and intervention for families who have suffered the tragic loss of a loved one to sudden infant death syndrome (SIDS) or sudden unexplained death syndrome (SUDS). Under the leadership of Christine A. Walsh, MD, a pediatric cardiologist and electrophysiologist; Bradley C. Clark, MD, a pediatric electrophysiologist; Thomas McDonald, MD, an adult cardiologist and scientific researcher; and Robert W. Marion, MD, a geneticist, genetics and child development chief and developmental pediatrics chair, our team offers various services to families struggling with the loss of a child to SIDS or SUDS. We provide diagnosis and evaluation of SIDS, SUDS and other types of sudden cardiac death. Positive results for the SIDS or SUDS genes confirm that genetic abnormalities indirectly caused a fatal cardiac rhythm disturbance.

We have an exceptional team of experienced staff trained in cardiogenetics, including pediatric and adult cardiologists, clinical and molecular geneticists and genetic counselors, psychologists, a social worker and a nurse practitioner. Through the collaborative efforts of our clinicians and basic scientists from the Departments of Pediatrics, Medicine, Molecular Genetics and Pathology, our multidisciplinary team identifies and treats family members at risk for sudden unexpected cardiac death.

Our services include medical and cardiac examinations, genetic testing and counseling, and psychosocial and interventional treatments.

Cardiogenetic Services

During their first visit to our Center, families meet with a genetic counselor and geneticist who take the family history and review all available autopsy and medical records. If prior genetic testing has been performed on family members, these records are obtained and reviewed. Individuals are examined for features that might suggest an underlying disorder known to be associated with sudden death such as long QT syndrome (LQTS), or a heart rhythm disorder that causes rapid heartbeats. Family members who have these features are seen by a cardiologist. A cardiac history is taken, and an examination is performed. If necessary, a series of cardiac tests are performed, including an electrocardiogram, Holter monitoring, event recording and an echocardiogram. Based on the results of clinical and genetic exams, some affected relatives receive additional tests, such as treadmill stress testing or treatment with procainamide, or testing with procainamide for Brugada syndrome, a type of channelopathy or disorder that disrupts regulation of what enters and leaves a cell. All cardiac rhythm exams are evaluated by a cardiologist with expertise in electrophysiology. This expert will search for evidence of an underlying heart rhythm disorder, an indication that the individual may be at risk for SIDS or SUDS.

Genetic testing is a powerful tool. The most effective approach is to test the individual who shows signs of the disease first—the person who has suffered a SIDS or SUDS episode.

Because the patient with SIDS or SUDS is most likely deceased, genetic testing is also performed on tissue saved at the time of the autopsy. In many cases, our team works with local medical examiners and laboratory staff to ensure the appropriate tissue is sent for testing.

Following completion of the evaluation, the team meets with the family to discuss the results. If genetic testing has revealed a mutation in one of the genes known to be associated with a cardiac channelopathy, our physicians offer testing and counseling to all at-risk relatives. If no mutation is identified, we do not perform further genetic testing on first-degree relatives.

Treatment for Cardiac Rhythm Disturbance

Our researchers continually investigate the events that trigger the mutation of genes and cause SIDS and SUDS. If a mutation is identified and further testing is performed on the relatives, our physicians examine for cardiac rhythm disturbance. Relatives who have this disorder and are at risk of SIDS or SUDS are seen by a cardiologist immediately who will discuss prevention strategies.
Treatment options include:

  • Modification of physical activity
  • Use of medication
  • Placement of an implantable cardiac defibrillator

In order to assess the family’s well-being, our physicians offer ongoing follow-up, both by telephone and in person in the clinic. Each family is assigned a nurse practitioner coordinator, a member of our team who has primary contact with the family and is in charge of follow-up. We also offer grief counseling to family members.

Because families come to us soon after a loved one’s unexpected death, we often refer individuals to a psychologist, who assesses their mental health. Based on this evaluation, the psychologist determines whether a referral is necessary for additional mental health assistance. If the psychologist recommends mental health services, he or she works with our social workers to find an appropriate physician close to the family’s home.

Montefiore Einstein Center for CardioGenetics (MECC)

Phone: 718-741-2343
Email Us: pedheart@montefiore.org

Children's Hospital at Montefiore
Pediatric Heart Center
3415 Bainbridge Avenue, 5th Floor
Bronx, NY 10467

Christine A. Walsh, MD
Co-Director, Montefiore Einstein Center for Cardiogenetics
Email: cwalsh@montefiore.org

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