Martina Brueckner, MD
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About
Titles
Professor of Pediatrics (Cardiology)
Biography
Martina Brueckner obtained her BS and MD degrees from the University of Virginia, followed by a Pediatric Residency at the University of Pittsburgh and a Pediatric Cardiology Fellowship at Yale University School of Medicine. Her clinical and research focus is genetics of congenital heart disease (CHD). The goal of the lab's work is to determine the genetic cause and developmental mechanisms underlying CHD with a focus on the function of cilia in heart development. Our work aims to bridge research in the basic developmental biology mechanisms underlying development of the embryonic left-right axis with clinical pediatric cardiology and cardiac genetics. The laboratory has been integral in understanding the cellular and molecular mechanism underlying vertebrate LR asymmetry, identifying genes and mechanism by which motile and immotile cilia establish an early asymmetric calcium signal that is essential to normal LR development of the heart. As part of the Pediatric Cardiac Genomics Consortium (PCGC), we are now combining our understanding of the basic biology underlying left-right development with state-of-the-art genomic approaches to a more comprehensive understanding of human CHD. We are focusing on the ability to identify the genetic causes of CHD, and to directly test putative genetic causes of human CHD identified from genomic analysis of patient DNA in animal model systems including mouse and zebrafish, and finally to link genetic and developmental mechanisms of CHD to improved care of patients with CHD.
Dr. Brueckner's clinical focus is on patients with genetic causes of congenital heart disease. It has become increasingly apparent that a large portion of cardiovascular disease in children and adolescents has as its underlying etiology a genetic defect. Dr. Brueckner co-founded one of the first pediatric cardiac genetics clinics at Yale-New Haven Children's Hospital. The clinic provides comprehensive diagnostic evaluation and follow-up care for patients with genetic-cardiovascular disease. Dr. Brueckner has been a staff cardiologist since completing her fellowship at Yale in 1990.
Appointments
Pediatric Cardiology
ProfessorPrimaryGenetics
ProfessorSecondary
Other Departments & Organizations
Education & Training
- Fellow
- Yale University School of Medicine (1990)
- Resident
- University of Pittsburgh Children's Hospital (1987)
- Intern
- University of Pittsburgh, School of Medicine (1985)
- MD
- University of Virginia (1984)
Research
Academic Achievements and Community Involvement
Clinical Care
Overview
Martina Brueckner, MD, is a pediatric cardiologist who integrates the latest findings in the genetic causes of congenital heart disease into her patient care. She says Yale Medicine provides a unique genetics-cardiology clinic that combines care for patients with congenital heart disease with state-of-the-art genetic testing and counseling. She tells new parents, “You did not cause your child's heart disease. Most people with congenital heart disease today survive.”
A professor of pediatrics (cardiology) at Yale School of Medicine, Dr. Brueckner is also an active researcher seeking to expand knowledge of the genomic underpinnings of congenital heart disease. “The goal of my work is to determine the genetic cause and developmental mechanisms underlying congenital heart disease, and to use those discoveries to improve care,” she says.
Dr. Brueckner is excited by significant advances in the understanding of congenital heart disease genetics, and she believes they will eventually allow doctors to optimize outcomes by tailoring care to each individual patient. “I am certain that we can dramatically improve the quality of life for people with congenital heart disease through research focused on the basic underlying causes,” she says.
Clinical Specialties
Fact Sheets
Pediatric Congenital Heart Surgery
Learn More on Yale MedicineBirth Defects
Learn More on Yale MedicinePatent Ductus Arteriosus (PDA)
Learn More on Yale MedicineCoarctation of the Aorta
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Yale Medicine News
Links & Media
Media
Flow chart linking developmental biology, genetic studies and congenital heart disease
Flow of data from basic developmental biology (pink blocks) to CHD genomics project (blue blocks)6577689
Calcium Signaling at the Node of e7.75 Mouse Embryos. Embryos are incubated with the cell-permeable calcium indicator Fluo3 and imaged by scanning confocal laser microscopy. Images are converted to an intensity scale. Red, high intensity; blue/black, low intensity. Fluo3 fluorescence is most intense at the left and posterior margins of the node. P-posterior, A-anterior, L-left. R-right
News
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- June 02, 2021
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