Anji Yetman - Academia.edu (original) (raw)
Papers by Anji Yetman
TGFB3-RELATED Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium
Journal of the American College of Cardiology
Pediatric Cardiology
Background: Left ventricular (LV) volumes, ejection fraction (EF), and myocardial strain have bee... more Background: Left ventricular (LV) volumes, ejection fraction (EF), and myocardial strain have been shown to be predictive of clinical and subclinical heart disease. Automation of LV functional assessment overcomes difficult technical challenges and complexities, potentially decreasing inter-observer and inter-center variability, reducing analysis times and improving echocardiography laboratory throughput and efficiency. We sought to assess whether a fully automated assessment of LV function could be reliably used in children and young adults. Methods: Fifty normal volunteers (22/28, female/male) were prospectively recruited for clinical research echocardiography. LV volumes, EF, and strain were measured both manually and automatically. An experienced sonographer performed all the manual analysis and recorded the analysis timing. The fully automated analyses were accomplished by 5 groups of observers with different knowledge and medical background (experienced sonographer, high school students, college students, medical students and pediatric cardiologists). AutoLV and AutoSTRAIN (TomTec) were employed for the fully automated LV analysis. The LV volumes, EF, strain, and analysis time were compared between manual and automated methods, and among the 5 groups of observers. Results: Software-determined endocardial border detection was achievable in all subjects. Image quality did not affect the ability of automated programs to record measurements. The analysis times of the experienced sonographer were significantly shorter for AutoLV than biplane Simpson's method and AutoSTRAIN than manual strain analyses (p<0.001). Strong correlations were seen between conventional EF and AutoLV (r=0.8373), and between conventional three view global longitudinal strain (GLS) and AutoSTRAIN (r=0.9766). The volumes from AutoLV and three view GLS from AutoSTRAIN had strong correlations among different observers regardless of level of expertise. EF from AutoLV analysis had moderately strong correlations among different observers. Conclusion: Automated pediatric LV analysis is feasible in normal hearts. Machine learning-enabled image analysis saves time and produces results that are comparable to traditional methods.
Diffuse Aneurysmal Disease Secondary to Novel Flna Gene Mutations
Journal of the American College of Cardiology, 2021
Siblings with biallelic TGFBR1 mutations and profound connective tissue disease: recessive Loeys-Dietz syndrome
Molecular Genetics and Metabolism, 2021
Third familial case of DNMT3A-related overgrowth syndrome: should we be screening for cardiac complications in these patients?
Molecular Genetics and Metabolism, 2021
Expert Review of Cardiovascular Therapy, 2019
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. Howe... more Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, Jan 4, 2018
PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alteratio... more PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was ...
American Heart Journal, 2013
Background-The Pediatric Heart Network designed a clinical trial to compare aortic root growth an... more Background-The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects. Methods and results-Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface areaadjusted aortic root diameter z-score >3.0. The mean age at study entry was 11.2 years, 60% were male, and 25% were older teenagers and young adults. The median aortic root diameter z-score was 4.0. Aortic root diameter z-score did not vary with age. Mitral valve prolapse and mitral regurgitation were more common in females. Among those with a positive family history, 56% had a family member with aortic surgery, and 32% had a family member with a history of aortic dissection. Conclusions-Baseline demographic, clinical, and anthropometric characteristics of the randomized cohort are representative of patients in this population with moderate to severe aortic root dilation. The high percentage of young subjects with relatives who have had aortic dissection or surgery illustrates the need for more definitive therapy; we expect that the results of the study and the wealth of systematic data collected will make an important contribution to the management of individuals with Marfan syndrome. Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in FBN1, the gene encoding fibrillin-1. 1 Cardiovascular disease, mainly aortic root dilation and aortic dissection, is the leading cause of mortality in MFS. Although early diagnosis and refined medical and surgical management have improved median cumulative probability of survival from approximately 40 to 70 years, individuals with MFS continue to have high morbidity and early mortality. 2
From functional pulmonary atresia to right ventricular restriction
International Journal of Cardiology, 1998
We report a 14 year old boy who presented as a neonate with functional pulmonary atresia due to U... more We report a 14 year old boy who presented as a neonate with functional pulmonary atresia due to Uhl's disease with emphasis on the later detection of restrictive right ventricular physiology.
TGFB3-RELATED Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium
Journal of the American College of Cardiology
Pediatric Cardiology
Background: Left ventricular (LV) volumes, ejection fraction (EF), and myocardial strain have bee... more Background: Left ventricular (LV) volumes, ejection fraction (EF), and myocardial strain have been shown to be predictive of clinical and subclinical heart disease. Automation of LV functional assessment overcomes difficult technical challenges and complexities, potentially decreasing inter-observer and inter-center variability, reducing analysis times and improving echocardiography laboratory throughput and efficiency. We sought to assess whether a fully automated assessment of LV function could be reliably used in children and young adults. Methods: Fifty normal volunteers (22/28, female/male) were prospectively recruited for clinical research echocardiography. LV volumes, EF, and strain were measured both manually and automatically. An experienced sonographer performed all the manual analysis and recorded the analysis timing. The fully automated analyses were accomplished by 5 groups of observers with different knowledge and medical background (experienced sonographer, high school students, college students, medical students and pediatric cardiologists). AutoLV and AutoSTRAIN (TomTec) were employed for the fully automated LV analysis. The LV volumes, EF, strain, and analysis time were compared between manual and automated methods, and among the 5 groups of observers. Results: Software-determined endocardial border detection was achievable in all subjects. Image quality did not affect the ability of automated programs to record measurements. The analysis times of the experienced sonographer were significantly shorter for AutoLV than biplane Simpson's method and AutoSTRAIN than manual strain analyses (p<0.001). Strong correlations were seen between conventional EF and AutoLV (r=0.8373), and between conventional three view global longitudinal strain (GLS) and AutoSTRAIN (r=0.9766). The volumes from AutoLV and three view GLS from AutoSTRAIN had strong correlations among different observers regardless of level of expertise. EF from AutoLV analysis had moderately strong correlations among different observers. Conclusion: Automated pediatric LV analysis is feasible in normal hearts. Machine learning-enabled image analysis saves time and produces results that are comparable to traditional methods.
Diffuse Aneurysmal Disease Secondary to Novel Flna Gene Mutations
Journal of the American College of Cardiology, 2021
Siblings with biallelic TGFBR1 mutations and profound connective tissue disease: recessive Loeys-Dietz syndrome
Molecular Genetics and Metabolism, 2021
Third familial case of DNMT3A-related overgrowth syndrome: should we be screening for cardiac complications in these patients?
Molecular Genetics and Metabolism, 2021
Expert Review of Cardiovascular Therapy, 2019
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. Howe... more Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, Jan 4, 2018
PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alteratio... more PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was ...
American Heart Journal, 2013
Background-The Pediatric Heart Network designed a clinical trial to compare aortic root growth an... more Background-The Pediatric Heart Network designed a clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan. We report here the characteristics of the screened population and enrolled subjects. Methods and results-Between 2007 and 2011, 21 clinical sites randomized 608 subjects, aged 6 months to 25 years who met the original Ghent criteria and had a body surface areaadjusted aortic root diameter z-score >3.0. The mean age at study entry was 11.2 years, 60% were male, and 25% were older teenagers and young adults. The median aortic root diameter z-score was 4.0. Aortic root diameter z-score did not vary with age. Mitral valve prolapse and mitral regurgitation were more common in females. Among those with a positive family history, 56% had a family member with aortic surgery, and 32% had a family member with a history of aortic dissection. Conclusions-Baseline demographic, clinical, and anthropometric characteristics of the randomized cohort are representative of patients in this population with moderate to severe aortic root dilation. The high percentage of young subjects with relatives who have had aortic dissection or surgery illustrates the need for more definitive therapy; we expect that the results of the study and the wealth of systematic data collected will make an important contribution to the management of individuals with Marfan syndrome. Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in FBN1, the gene encoding fibrillin-1. 1 Cardiovascular disease, mainly aortic root dilation and aortic dissection, is the leading cause of mortality in MFS. Although early diagnosis and refined medical and surgical management have improved median cumulative probability of survival from approximately 40 to 70 years, individuals with MFS continue to have high morbidity and early mortality. 2
From functional pulmonary atresia to right ventricular restriction
International Journal of Cardiology, 1998
We report a 14 year old boy who presented as a neonate with functional pulmonary atresia due to U... more We report a 14 year old boy who presented as a neonate with functional pulmonary atresia due to Uhl's disease with emphasis on the later detection of restrictive right ventricular physiology.