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Research & Innovation

Patients have the opportunity to be involved in clinical trials and research initiatives that help our understanding of cardiac genetic conditions and how we can improve care. This research often leads to pioneering treatments that are available here before anywhere else.

Our research includes:

  • Designing and holding clinical trials on new therapies
  • Understanding how genetic changes lead to specific cardiac conditions and long-term outcomes
  • Creating multicenter registries, together with colleagues from other centers, to get the best insights into rare genetic diagnoses
  • Devising management guidelines for many of the different conditions we diagnose and treat
Illustrations of heart and brain inside overlapping blue circles.

Research aims to pinpoint genetic connection between autism and heart disease

A study underway at Boston Children’s takes a close look at the genetics of children with neurodevelopment and cardiovascular conditions.

Read more

Visit these links to explore the latest clinical and translational research and learn about other groundbreaking initiatives by our physicians’ laboratories. At your next visit, we’ll be happy to discuss our team’s work and how this research could benefit you and your family.

Recent publications

  1. Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement; Dec 3, 2025; pubmed:41333400. View on PubMed
  2. Dosage-sensitive <em>RBFOX2</em> autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome; Nov 24, 2025; pubmed:41280054. View on PubMed
  3. Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings; Nov 19, 2025; pubmed:41256121. View on PubMed
  4. Neurocognitive Delay in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia; Nov 19, 2025; pubmed:41255348. View on PubMed
  5. Arrhythmogenic Cardiomyopathy in the Pediatric Patient; Nov 8, 2025; pubmed:41206180. View on PubMed
  6. Cardiac Channelopathies in the Pediatric Patient: The Ryanodine Receptor Related Inherited Cardiac Syndromes; Nov 8, 2025; pubmed:41206178. View on PubMed
  7. Mechanotyping of Organoids for Assessing Drug-Induced Injuries; Nov 5, 2025; pubmed:41190827. View on PubMed
  8. Trends in Bicuspid Aortic Valve-Attributable Death in the United States From 2010 to 2020; Oct 28, 2025; pubmed:41147373. View on PubMed
  9. Direct Therapeutic Modulation of RYR2 Activity by CMYA5; Oct 20, 2025; pubmed:41115167. View on PubMed
  10. 'Impact of a Regional Damage Control Surgery Pathway on Time to Surgery for Neonates With Severe Necrotising Enterocolitis. A Prospective Cohort Study'; Sep 28, 2025; pubmed:41016551. View on PubMed
  11. Accelerating Guideline-Recommended Universal Pediatric Lipid Screening: Launch of the LEAD Pediatric Initiative; Sep 19, 2025; pubmed:40972712. View on PubMed
  12. Mitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders; Sep 8, 2025; pubmed:40921252. View on PubMed
  13. <em>In vivo</em> tumor imaging of pre-clinical models via reflection-mode measurements of circular degree of polarization; Sep 8, 2025; pubmed:40919576. View on PubMed
  14. Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant; Sep 6, 2025; pubmed:40913606. View on PubMed
  15. Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis; Sep 4, 2025; pubmed:40908116. View on PubMed
  16. Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants; Aug 20, 2025; pubmed:40832715. View on PubMed
  17. The Use of Mobile Health Technology and Behavioral Economics to Encourage Adherence to Statins and Blood Pressure-Lowering Medication in Adolescents with Familial Hypercholesterolemia or Hypertension: Protocol for a Pre-Post Cohort Study; Aug 14, 2025; pubmed:40810443. View on PubMed
  18. TBX5 and CHD4 Coordinately Activate Atrial Cardiomyocyte Genes to Maintain Cardiac Rhythm Homeostasis; Aug 13, 2025; pubmed:40799140. View on PubMed
  19. Molecular Mechanisms of Cardiomyocyte Aging; Aug 6, 2025; pubmed:40766565. View on PubMed
  20. Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing; Jul 27, 2025; pubmed:40713712. View on PubMed
  21. Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy; Jul 16, 2025; pubmed:40666337. View on PubMed
  22. Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery; Jul 10, 2025; pubmed:40640177. View on PubMed
  23. Correction to: Evinacumab for Pediatric Patients With Homozygous Familial Hypercholesterolemia; Jul 7, 2025; pubmed:40623081. View on PubMed
  24. Aortic endograft infections have worse outcomes compared to aortic surgical grafts or primary mycotic aortic infections; Jun 24, 2025; pubmed:40553917. View on PubMed
  25. Reply; Jun 15, 2025; pubmed:40518228. View on PubMed
  26. Rapid generation of functional vascular organoids via simultaneous transcription factor activation of endothelial and mural lineages; Jun 14, 2025; pubmed:40516530. View on PubMed
  27. The drug-elicitable alternative splicing module for tunable vector expression in the heart; Jun 13, 2025; pubmed:40514436. View on PubMed
  28. Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment; Jun 10, 2025; pubmed:40495012. View on PubMed
  29. Consumption of ultra-processed foods by foreign-born adults rise with increased levels of acculturation in the United States; May 30, 2025; pubmed:40443924. View on PubMed
  30. SCIG: Machine learning uncovers cell identity genes in single cells by genetic sequence codes; May 28, 2025; pubmed:40433981. View on PubMed
  31. A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes; May 6, 2025; pubmed:40326536. View on PubMed
  32. Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy"; May 5, 2025; pubmed:40324028. View on PubMed
  33. Perioperative Outcomes for Children With Cardiomyopathy Undergoing Noncardiac Procedures; May 3, 2025; pubmed:40318210. View on PubMed
  34. NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes; May 2, 2025; pubmed:40316016. View on PubMed
  35. Managing acute supraventricular tachycardia and the role of intravenous sotalol; Apr 30, 2025; pubmed:40305094. View on PubMed
  36. Combining polygenic and clinical risk scores in atrial fibrillation risk prediction: Implications for population screening; Apr 27, 2025; pubmed:40288473. View on PubMed
  37. Translational insights into statin-induced myotoxicity: Differential impact of lipophilic and hydrophilic statins on iPSC-derived skeletal muscle cells from patients with familial hypercholesterolemia; Apr 20, 2025; pubmed:40254247. View on PubMed
  38. Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy; Apr 15, 2025; pubmed:40234403. View on PubMed
  39. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes; Mar 24, 2025; pubmed:40127276. View on PubMed
  40. The psychology of criminal authority: Introducing the Legitimacy of Secret Power Scale; Mar 24, 2025; pubmed:40123857. View on PubMed
  41. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease; Mar 23, 2025; pubmed:40121807. View on PubMed
  42. Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy; Mar 17, 2025; pubmed:40096296. View on PubMed
  43. Understanding Provider's Experiences With Telehealth at an Urban Pediatric Health Care System; Mar 11, 2025; pubmed:40067987. View on PubMed
  44. Recessive genetic contribution to congenital heart disease in 5,424 probands; Mar 3, 2025; pubmed:40030011. View on PubMed
  45. Acute Effects of Enhanced External Counterpulsation in Adults With Fontan Circulation; Feb 21, 2025; pubmed:39983607. View on PubMed
  46. An enhanced recovery after surgery (ERAS) pathway for laparoscopic gastrostomy insertion facilitates 23-h discharge; Feb 17, 2025; pubmed:39961858. View on PubMed
  47. A Quality Improvement Initiative to Optimize Follow-Up in the New England Area for Pediatric Patients With Cardiovascular Implantable Electronic Devices; Feb 11, 2025; pubmed:39930953. View on PubMed
  48. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact; Jan 29, 2025; pubmed:39877905. View on PubMed
  49. Genetic and Molecular Underpinnings of Atrial Fibrillation; Jan 27, 2025; pubmed:39867228. View on PubMed
  50. Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy; Jan 24, 2025; pubmed:39851041. View on PubMed
  51. The natural history of portal venous system aneurysms; Dec 29, 2024; pubmed:39733830. View on PubMed
  52. Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer; Dec 17, 2024; pubmed:39688912. View on PubMed
  53. CHD4 Interacts With TBX5 to Maintain the Gene Regulatory Network of Postnatal Atrial Cardiomyocytes; Dec 16, 2024; pubmed:39677667. View on PubMed
  54. Cardiac Applications of CRISPR/AAV-Mediated Precise Genome Editing; Dec 16, 2024; pubmed:39677651. View on PubMed
  55. Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing; Dec 13, 2024; pubmed:39669606. View on PubMed
  56. Author Correction: Reflection mode polarimetry guides laser mass spectrometry to diagnostically important regions of human breast cancer tissue; Dec 5, 2024; pubmed:39639050. View on PubMed
  57. Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy; Dec 5, 2024; pubmed:39633578. View on PubMed
  58. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes; Dec 2, 2024; pubmed:39622807. View on PubMed
  59. Non-Cell-Autonomous Cardiomyocyte Regulation Complicates Gene Supplementation Therapy for <em>Lmna</em>-Associated Cardiac Defects in Mice; Dec 2, 2024; pubmed:39619139. View on PubMed
  60. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome; Nov 27, 2024; pubmed:39603521. View on PubMed
  61. A Natural History Study of Timothy Syndrome; Nov 23, 2024; pubmed:39580446. View on PubMed
  62. Intraoperative Conduction Mapping to Reduce Postoperative Atrioventricular Block in Complex Congenital Heart Disease; Nov 13, 2024; pubmed:39537250. View on PubMed
  63. The Clinical Trajectory of NYHA Functional Class I Patients With Obstructive Hypertrophic Cardiomyopathy; Nov 9, 2024; pubmed:39520446. View on PubMed
  64. Clinical Features and Outcomes of Pediatric <em>MYH7</em>-Related Dilated Cardiomyopathy; Nov 4, 2024; pubmed:39494569. View on PubMed
  65. Reflection mode polarimetry guides laser mass spectrometry to diagnostically important regions of human breast cancer tissue; Nov 1, 2024; pubmed:39482347. View on PubMed
  66. Intraoperative conduction system mapping during reoperative mitral valve replacement; Oct 31, 2024; pubmed:39478916. View on PubMed
  67. Correction: Isometric Exercise Does Not Affect the Diameter of the Ascending Aorta in Youth with Bicuspid Aortic Valves; Oct 19, 2024; pubmed:39425779. View on PubMed
  68. Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping; Oct 7, 2024; pubmed:39371121. View on PubMed
  69. Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry; Oct 2, 2024; pubmed:39355918. View on PubMed
  70. Ventricular septation for double inlet ventricle: Avoiding conduction injury; Sep 28, 2024; pubmed:39341552. View on PubMed
  71. Clinical features and outcomes in carriers of pathogenic desmoplakin variants; Sep 17, 2024; pubmed:39288222. View on PubMed
  72. Low LDL-C: Is It all Good News?; Sep 10, 2024; pubmed:39254830. View on PubMed
  73. Efficacy and safety of early postoperative ablation in patients with congenital heart disease; Sep 8, 2024; pubmed:39245252. View on PubMed
  74. Virally delivered CMYA5 enhances the assembly of cardiac dyads; Sep 5, 2024; pubmed:39237710. View on PubMed
  75. Implantable cardioverter defibrillators in paediatric patients: yet another example of healthcare divergence?; Sep 4, 2024; pubmed:39228363. View on PubMed
  76. Author Correction: Tbx5 maintains atrial identity in postnatal cardiomyocytes by regulating an atrial-specific enhancer network; Aug 28, 2024; pubmed:39196102. View on PubMed
  77. Activation of VGLL4 Suppresses Cardiomyocyte Maturational Hypertrophic Growth; Aug 28, 2024; pubmed:39195232. View on PubMed
  78. Additive value of invasive haemodynamic assessment for predicting post-operative outcomes after Fontan; Aug 27, 2024; pubmed:39188221. View on PubMed
  79. Impact of permanent pacemaker for iatrogenic atrioventricular block on outcomes after congenital heart surgery; Aug 25, 2024; pubmed:39182903. View on PubMed
  80. Antisense Oligonucleotide Therapy for Calmodulinopathy; Aug 19, 2024; pubmed:39155863. View on PubMed
  81. Management of ultrarare inherited arrhythmia syndromes; Aug 18, 2024; pubmed:39154872. View on PubMed
  82. Six-Year Outcomes of Total Arch Replacement vs Debranching With TEVAR for Aortic Arch Pathologies: Meta-Analysis of Kaplan-Meier-Derived Data From Propensity Score-Matched Studies; Aug 2, 2024; pubmed:39092873. View on PubMed
  83. Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy; Jul 29, 2024; pubmed:39070617. View on PubMed
  84. CITED4 gene therapy protects against maladaptive cardiac remodeling after ischemia/reperfusion injury in mice; Jul 27, 2024; pubmed:39066479. View on PubMed
  85. Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study; Jul 25, 2024; pubmed:39051104. View on PubMed
  86. In vivo proximity proteomics uncovers palmdelphin (PALMD) as a Z-disc-associated mitigator of isoproterenol-induced cardiac injury; Jul 23, 2024; pubmed:39043970. View on PubMed
  87. Vestigial like 4 regulates the adipogenesis of classical brown adipose tissue; Jul 19, 2024; pubmed:39026854. View on PubMed
  88. A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers; Jul 16, 2024; pubmed:39011630. View on PubMed
  89. Efficient and reproducible generation of human iPSC-derived cardiomyocytes and cardiac organoids in stirred suspension systems; Jul 15, 2024; pubmed:39009604. View on PubMed
  90. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure; Jul 5, 2024; pubmed:38968977. View on PubMed
  91. Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy; Jun 28, 2024; pubmed:38938828. View on PubMed
  92. The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease; Jun 26, 2024; pubmed:38921669. View on PubMed
  93. Therapeutic Inhibition of <em>LincRNA-p21</em> Protects Against Cardiac Hypertrophy; Jun 12, 2024; pubmed:38864216. View on PubMed
  94. Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment; Jun 10, 2024; pubmed:38853821. View on PubMed
  95. Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types; Jun 5, 2024; pubmed:38836834. View on PubMed
  96. Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes; Jun 3, 2024; pubmed:38828726. View on PubMed
  97. A Natural History Study of Timothy Syndrome; Jun 3, 2024; pubmed:38826393. View on PubMed
  98. MicroRNA-122-Mediated Liver Detargeting Enhances the Tissue Specificity of Cardiac Genome Editing; May 28, 2024; pubmed:38805581. View on PubMed
  99. Allele-Specific Suppression of Variant MHC With High-Precision RNA Nuclease CRISPR-Cas13d Prevents Hypertrophic Cardiomyopathy; May 16, 2024; pubmed:38752340. View on PubMed
  100. Noonan Syndrome; Jan 1, 1993; pubmed:20301303. View on PubMed