Assistant Professor
Medicine
Research Interests
Deep learning and cardiovascular genetics
Interested in the prevention of cardiac and aortic diseases, and in the use of genetic information to inform cardiovascular care.
Dr. Pirruccello studies cardiovascular and aortic diseases using machine learning and genetics. He uses machine learning to quantify the heart, and to create new types of measurements that can help us to better understand health and disease. He uses genetics to analyze these measurements to gain insight into mechanisms of disease. Further, Dr. Pirruccello uses both genetics and machine learning to develop tools to better understand risk, before the onset of disease.
Faculty Type
Core CVRI Faculty
Publications
Moving Beyond the Model: Our Perspective on Meaningful AI Research in Cardiovascular Care.
Journal of the American College of Cardiology
Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in 18,000 Clinical Trial Participants.
Journal of the American College of Cardiology
Whole-genome sequencing analysis of left ventricular structure and sphericity in 80,000 people.
medRxiv : the preprint server for health sciences
Estimating ascending aortic diameter from the electrocardiogram.
medRxiv : the preprint server for health sciences
Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.
Nature genetics
Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score.
JACC. Advances
New Threshold for Defining Mild Aortic Stenosis Derived From Velocity-Encoded MRI in 60,000 Individuals.
Journal of the American College of Cardiology
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.
Nature genetics
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Nature genetics
A deep learning digital biomarker to detect hypertension and stratify cardiovascular risk from the electrocardiogram.
NPJ digital medicine
Unsupervised deep learning of electrocardiograms enables scalable human disease profiling.
NPJ digital medicine
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.
medRxiv : the preprint server for health sciences
The AORTA Gene score for detection and risk stratification of ascending aortic dilation.
European heart journal
Associations of "Weekend Warrior" Physical Activity With Incident Disease and Cardiometabolic Health.
Circulation
Clonal hematopoiesis, cardiovascular events and treatment benefit in 63,700 individuals from five TIMI randomized trials.
Nature medicine
Genetics of Cardiac Aging Implicate Organ-Specific Variation.
medRxiv : the preprint server for health sciences
Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping.
Nature medicine
Deep learning of left atrial structure and function provides link to atrial fibrillation risk.
Nature communications
Genetically Predicted Gestational Age and Birth Weight Are Associated With Cardiac and Pulmonary Vascular Remodeling in Adulthood.
European journal of preventive cardiology
Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.
medRxiv : the preprint server for health sciences
Artificial Intelligence for Cardiovascular Care - Part 1: Advances: JACC Review Topic of the Week.
Journal of the American College of Cardiology
Artificial Intelligence in Cardiovascular Care - Part 2: Applications: JACC Review Topic of the Week.
Journal of the American College of Cardiology
Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.
Arteriosclerosis, thrombosis, and vascular biology
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Nature communications
Sex differences in ascending aortic size reporting and growth on chest computed tomography and magnetic resonance imaging.
Clinical imaging
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Nature Cardiovascular Research
AORTA Gene: Polygenic prediction improves detection of thoracic aortic aneurysm.
medRxiv : the preprint server for health sciences
Association of genetic risk and outcomes in patients with atrial fibrillation: interactions with early rhythm control in the EAST-AFNET4 trial.
Cardiovascular research
The Cardiovascular Impact and Genetics of Pericardial Adiposity.
medRxiv : the preprint server for health sciences
Machine learning-based markers for CAD.
Lancet (London, England)
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
Nature genetics
Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.
Circulation. Genomic and precision medicine
Increased Risk of Thoracic Aortic Aneurysms With JAK2 V617F.
Journal of the American College of Cardiology
A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.
Proceedings of the National Academy of Sciences of the United States of America
Assessment of valvular function in over 47,000 people using deep learning-based flow measurements.
medRxiv : the preprint server for health sciences
Genetics of myocardial interstitial fibrosis in the human heart and association with disease.
Nature genetics
The Genetic Determinants of Aortic Distention.
Journal of the American College of Cardiology
Adjusting for common variant polygenic scores improves yield in rare variant association analyses.
Nature genetics
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.
Nature communications
Predictive Utility of a Coronary Artery Disease Polygenic Risk Score in Primary Prevention.
JAMA cardiology
TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease.
Nature Cardiovascular Research
Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch.
Circulation. Genomic and precision medicine
Development of a Prediction Model for Ascending Aortic Diameter Among Asymptomatic Individuals.
JAMA
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Obesity (Silver Spring, Md.)
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature communications
Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta.
Arteriosclerosis, thrombosis, and vascular biology
Genetics and mechanisms of thoracic aortic disease.
Nature reviews. Cardiology
Wearable accelerometer-derived physical activity and incident disease.
NPJ digital medicine
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature communications
Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.
Journal of the American College of Cardiology
LMNA Variants and Risk of Adult-Onset Cardiac Disease.
Journal of the American College of Cardiology
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
JAMA cardiology
Genetic Association of Body Mass Index With Pathologic Left Ventricular Remodeling.
Journal of the American Heart Association
Genetic Architecture of Stroke of Undetermined Source: Overlap with Known Stroke Etiologies and Associations with Modifiable Risk Factors.
Annals of neurology
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Nature genetics
Machine learning enables new insights into genetic contributions to liver fat accumulation.
Cell genomics
Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis.
The Journal of experimental medicine
Association of Diet Quality With Prevalence of Clonal Hematopoiesis and Adverse Cardiovascular Events.
JAMA cardiology
Deep Learning to Predict Cardiac Magnetic Resonance-Derived Left Ventricular Mass and Hypertrophy From 12-Lead ECGs.
Circulation. Cardiovascular imaging
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Nature medicine
Cardiovascular and Kidney Outcomes Across the Glycemic Spectrum: Insights From the UK Biobank.
Journal of the American College of Cardiology
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Nature communications
Deep learning to estimate cardiac magnetic resonance-derived left ventricular mass.
Cardiovascular digital health journal
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Nature genetics
Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank.
Med (New York, N.Y.)
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Research square
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
medRxiv : the preprint server for health sciences
Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.
Circulation
Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank.
Arteriosclerosis, thrombosis, and vascular biology
Menopausal age and left ventricular remodeling by cardiac magnetic resonance imaging among 14,550 women.
American heart journal
How Will Machine Learning Inform the Clinical Care of Atrial Fibrillation?
Circulation research
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Nature communications
Titin Truncating Variants in Adults Without Known Congestive Heart Failure.
Journal of the American College of Cardiology
Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis.
Circulation
Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.
Circulation research
"Road Map" to Improving Enrollment in Cardiac Rehabilitation: Identifying Barriers and Evaluating Alternatives.
Journal of the American Heart Association
Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol.
Atherosclerosis
An electronic cardiac rehabilitation referral system increases cardiac rehabilitation referrals.
Coronary artery disease
Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.
Atherosclerosis
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
Lancet (London, England)
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
European heart journal
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
The New England journal of medicine
Genetics of lipid disorders.
Current opinion in cardiology
Candidate gene association resource (CARe): design, methods, and proof of concept.
Circulation. Cardiovascular genetics
Address
555 & 535 Mission Bay Blvd Sou, Rm 252M
UCSF Box 3118
San Francisco, CA 94158
United States