Cardiogenetics Program

Comprehensive and Compassionate Care for Children with Genetic Heart Disorders

Genetics is at the core of many cardiac disorders. NewYork-Presbyterian’s Cardiogenetics Program, a joint initiative of the pediatric centers of NewYork-Presbyterian Morgan Stanley Children’s Hospital and NewYork-Presbyterian Komansky Children’s Hospital, provides comprehensive genetic evaluation and cardiac care to children of all ages with known or suspected heart conditions that have a genetic cause. These include congenital heart defects (CHDs), malformations of the heart that are present at birth and can affect the function of the baby’s heart), pediatric cardiomyopathies, and pulmonary hypertension. Our experienced team of geneticists (doctors with specialized training in genes and heredity) help you learn if you, your partner, or your baby may be at risk for heart disease. If your child is found or suspected to have a cardiac disease, our multidisciplinary team of pediatric cardiologists, maternal-fetal medicine specialists and other heart specialists devise a plan of care to improve your child’s cardiac health, longevity and quality of life.

About Our Program

The NewYork-Presbyterian Cardiogenetics Program offers advanced clinical evaluation, risk assessment, genetic testing and counseling, and comprehensive care for children with known or suspected genetic heart conditions. When appropriate, we identify research studies for which patients may qualify to understand their condition better or access new treatments in clinical trials. For patients planning their families, we provide reproductive options for having healthy children.

If a congenital heart defect is diagnosed before birth, our fetal cardiologists collaborate with maternal-fetal medicine specialists, cardiac surgery, genetic and other sub-specialists at the Carmen and John Thain Center for Prenatal Pediatrics at NewYork-Presbyterian Morgan Stanley Children’s Hospital and the Fetal Care Center at NewYork-Presbyterian Komansky Children’s Hospital, where we provide the most comprehensive and compassionate care for mother and baby from the time of prenatal diagnosis through birth and beyond.

Conditions We Care For

NewYork-Presbyterian provides comprehensive care for children with heart conditions that have a genetic cause. These conditions include:

  • Arrhythmia (such as long QT syndrome)
  • Cardiomyopathy (such as hypertrophic cardiomyopathy)
  • Congenital heart disease
  • Familial lipid disorders
  • Marfan syndrome and other connective tissue disorders
  • Pulmonary hypertension

Reasons for a Cardiogenetics Referral

There are several reasons why you or your baby may be referred to our Cardiogenetics Program:

  • An ultrasound has revealed an issue with your baby’s heart
  • Your baby has a known or suspected genetic or chromosomal abnormality
  • You have a multiple pregnancy
  • You have a family history of congenital heart disease

Our Approach to Care

Prenatal Genetic Testing

Genetic testing, the analysis of a person’s genes, can help a woman learn if she, her partner, or her baby may be at risk for certain medical conditions such as CHDs. At NewYork-Presbyterian, our experienced and compassionate clinical genetics specialists evaluate your risk, provide compassionate genetic counseling, and formulate a care plan tailored to your unique needs. This highly personalized approach, coupled with NewYork-Presbyterian’s unmatched resources and services, gives you the most evidence-based care to help you make informed decisions for your and your family’s health and quality of life.

Early Diagnosis and Collaborative Care

If your baby is at risk of having a CHD or if you have a family history of CHD, our board-certified pediatric cardiologists will perform an advanced fetal echocardiography, a screening test that may be performed in the first trimester of pregnancy, as early as 11-14 weeks.

  • If a heart defect is found on fetal echocardiography, our pediatric cardiologists will immediately coordinate your baby’s care with geneticists, pediatric heart surgeons, maternal-fetal medicine specialists, neonatologists and other pediatric heart experts. From the moment of diagnosis until your baby's birth, you and your family receive extensive counseling so you understand each step of the treatment process.
  • If a heart defect is detected after your baby is born, our pediatric cardiologists coordinate your child's heart care with our specialists in electrophysiology, heart failure, pulmonary hypertension and cardiac surgery.

Continuity of Care for Mother and Baby

The relationship of NewYork-Presbyterian’s pediatric cardiology and cardiac surgery divisions begins before birth when a mother is first diagnosed with a high-risk pregnancy due to a fetal CHD. Consultations with one of our fetal cardiologists, cardiothoracic surgeons, or interventional cardiologists are provided in conjunction with expert maternal-fetal medicine specialists. This continuity of care is maintained throughout the pregnancy and postnatal care.

Services we offer

Prenatal genetic testing

Prenatal genetic testing gives expecting parents information about whether their fetus is at risk of having a genetic disorder.

Advanced fetal echocardiography

Advanced fetal echocardiography is recommended if your baby is at risk of having a CHD or if you have a family history of CHD.

Comprehensive care for mothers and babies suspected of having a CHD

Comprehensive care for mothers and babies suspected of having a CHD, includes counseling and coordinated care for any prenatal interventions, delivering your baby safely and medical treatments after birth.

Clinical trials

Clinical trials offer opportunities for new treatments in children with heart conditions.

Preconception screening and family planning

Preconception screening and family planning is available for women and their partners who are thinking about having a family and are concerned about the risk of having a child with a genetic heart disorder. Knowing in advance about these genetic disorders can help inform your family planning decisions.

Why Choose Us

Expertise in Genetic Testing and Counseling

At NewYork-Presbyterian, our team of highly specialized, internationally recognized geneticists, genetic counselors, and nurse practitioners provide clinical services to children and adults with CHD and a wide variety of rare genetic disorders. Our geneticists provide comprehensive genomic testing that may not be available or is difficult to access at other institutions. We frequently use exome or genome sequencing to facilitate diagnoses in complex cases. We offer a second-opinion service to reassess previously performed genomic tests to evaluate patients with undiagnosed disorders.

Leaders in Maternal-Fetal Medicine

NewYork-Presbyterian’s maternal-fetal medicine programs at the Carmen and John Thain Center for Prenatal Pediatrics at NewYork-Presbyterian Morgan Stanley Children’s Hospital and the Fetal Care Center at NewYork-Presbyterian Komansky Children’s Hospital are among the largest and most experienced programs in the country. Headed by academic leaders from Columbia and Weill Cornell Medicine who have advanced knowledge in pregnancy complications, these experts collaborate with colleagues in neonatology, pediatrics, cardiology, anesthesiology, and surgery to provide care tailored to your individualized needs.

Recognized for High Standards of Care

  • NewYork-Presbyterian is designated a Regional Perinatal Center by the State of New York — the highest hospital classification level — denoting its expertise, treatment, and skills to care for the most difficult and high-risk cases.
  • NewYork-Presbyterian is a participating Network Center of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network, supporting research to reduce morbidities associated with preterm birth, fetal growth abnormalities, and maternal complications.
  • National Recognition for Excellence in Nursing from ANCC Magnet Recognition Program.

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