Posts by Mark E. Lindsay, MD, PhD
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Rare Smooth Muscle Disorder Traced to a Single Mutation in a Non-coding Gene
In the first case of its kind, Massachusetts General Hospital researchers detected a monogenetic vascular disease caused by a mutation in a non–protein-encoding gene. They linked multisystemic smooth muscle dysfunction syndrome to a single-nucleotide variant in MIR145.
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Polygenic Risk Score Identifies Individuals at Risk of Thoracic Aortic Aneurysm
James P. Pirruccello, MD, Patrick T. Ellinor, MD, PhD, Mark Lindsay, MD, PhD, and colleagues used artificial intelligence to reveal the genetic basis of aortic size variation, then built a polygenic risk score that predicted future risk of thoracic aortic aneurysm. Their findings may also point to new therapeutic targets.
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New England Journal of Medicine Case Records: A 41-Year-Old Woman with Recurrent Chest Pain
A 41-year-old woman presented to Massachusetts General Hospital with chest pain
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Hereditary Links to Aortic Aneurysmal Disease
Researchers have established that a genetic predisposition to thoracic aortic aneurysm (TAA) and genetic factors play a prominent role in TAA expression.
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Marfan Syndrome: a Significant Predictor of Recurrent Aortic Dissection
Mass General researchers identified 204 cases of recurrent AD from 3,828 AD cases in the International Registry of Acute Aortic Dissection. The study was published in the journal Circulation.
Biography
Cardiologist specializing in Genetic Aortic Disease, Massachusetts General Hospital and Mass General for Children. Assistant Professor of Medicine at Harvard Medical School.
Cardiovascular Care at Mass General
At Mass General, our world-class physicians and nurses specialize in specific forms of both heart and vascular disease, and work closely together to offer leading treatments and preventive care for cardiovascular conditions.