Search Results - "Rigelsky, Christina"

Increased Mutagen Sensitivity and DNA Damage in Pulmonary Arterial Hypertension by Federici, Chiara, Drake, Kylie M, Rigelsky, Christina M, McNelly, Lauren N, Meade, Sirena L, Comhair, Suzy A A, Erzurum, Serpil C, Aldred, Micheala A

“…Pulmonary arterial hypertension (PAH) is a serious lung condition characterized by vascular remodeling in the precapillary pulmonary arterioles. We and others…”
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Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association by Morris, Shaine A, Flyer, Jonathan N, Yetman, Anji T, Quezada, Emilio, Cappella, Elizabeth S, Dietz, Harry C, Milewicz, Dianna M, Ouzounian, Maral, Rigelsky, Christina M, Tierney, Seda, Lacro, Ronald V

“…Aortopathy encompasses a spectrum of conditions predisposing to dilation, aneurysm, dissection, or rupture of the aorta and other blood vessels. Aortopathy is…”
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Genetics of syndromic and nonsyndromic aortopathies by Rigelsky, Christina M, Moran, Rocio T

“…To review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies. The number of newly identified genetic causes for…”
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LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections by Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddharth K., Leal, Suzanne M., Bamshad, Michael J., Nickerson, Deborah A., Natowicz, Marvin, Rifkin, Daniel B., Milewicz, Dianna M.

“…The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable…”
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Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives by Brown, Chase R., BS, Greenberg, Roy K., MD, Wong, Shen, MD, Eagleton, Matthew, MD, Mastracci, Tara, MD, Hernandez, Adrian V., MD, PhD, Rigelsky, Christina M., MS, CGC, Moran, Rocio, MD

“…Background While a positive family history (FH) is a known risk factor for developing an aneurysm, its association with the extent of disease has not been…”
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Loeys-Dietz syndrome: Intermediate-term outcomes of medically and surgically managed patients by Aftab, Muhammad, Cikach, Frank S., Zhu, Yuanjia, Idrees, Jay J., Rigelsky, Christina M., Kalahasti, Vidyasagar, Roselli, Eric E., Svensson, Lars G.

“…Loeys-Dietz syndrome (LDS) is an aggressive connective tissue disorder associated with increased risk of aortic dissection and aneurysm rupture at an early age…”
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Genetics and Precision Medicine by Demo, Erin, MS, CGC, Rigelsky, Christina, MS, CGC, Rideout, Andrea L., MS, CCGC, CGC, Graf, Madeline, MS, LCGC, Pariani, Mitchel, MS, LCGC, Regalado, Ellen, MS, CGC, MacCarrick, Gretchen, MS, CGC

“…Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit…”
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Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia by Poloskey, Stacey L, Kim, Esther SH, Sanghani, Ruchi, Al-Quthami, Adeeb H, Arscott, Patricia, Moran, Rocio, Rigelsky, Christina M, Gornik, Heather L

“…Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic…”
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BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia by Rigelsky, Christina M., Jennings, Constance, Lehtonen, Rainer, Minai, Omar A., Eng, Charis, Aldred, Micheala A.

“…Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes…”
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Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia by Minai, Omar A, Rigelsky, Christina, Eng, Charis, Arroliga, Alejandro C, Stoller, James K

“…Hereditary hemorrhagic telangiectasia (HHT) may be associated with pulmonary hypertension (PH). In the context that little attention has been given to…”
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WHEN A ZEBRA CHANGES ITS STRIPES: GENOMIC RECLASSIFICATION OF A RARE CAUSE OF RESTRICTIVE CARDIOMYOPATHY by Albert, Chonyang, Moran, Rocio, Rigelsky, Christina, Tang, Wai Hong

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Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4 by Heald, Brandie, Rigelsky, Christina, Moran, Rocio, LaGuardia, Lisa, O'Malley, Margaret, Burke, Carol A., Zahka, Kenneth

“…Hereditary hemorrhagic telangiectasia (HHT) is characterized by abnormal vascular structures that may present as epistaxis, telangiectasias, and/or…”
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Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors by Miller, Erin M, Brown, Emily, Christian, Susan, Kelly, Melissa A, Knight, Linda M, Saberi, Sara, Rigelsky, Christina, Ingles, Jodie

“…Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical…”
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Multifocal Disease Progression and Subsequent Intervention in Patients with Actin Alpha-2 Variants; A Single Center Experience by Maigrot, Jean-Luc A, Vargo, Patrick R, Kramer, Benjamin, Rigelsky, Christina, Ghobrial, Joanna, Zahka, Kenneth, Najm, Hani, Roselli, Eric E

“…Describe patient characteristics and indications for surgical intervention, reoperation, and outcomes in patients with actin alpha-2 (ACTA2) variants. Single…”
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The modified frozen elephant trunk may outperform limited and extended-classic repair in acute type I dissection by Roselli, Eric E, Kramer, Benjamin, Germano, Emidio, Toth, Andrew, Vargo, Patrick R, Bakaeen, Faisal, Menon, Venu, Blackstone, Eugene H

“…Abstract OBJECTIVES A better surgical approach for acute DeBakey type I dissection has been sought for decades. We compare operative trends, complications,…”
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A Case for Inclusion of Genetic Counselors in Cardiac Care by Arscott, Patricia, Caleshu, Colleen, Kotzer, Katrina, Kreykes, Sarah, Kruisselbrink, Teresa, Orland, Kate, Rigelsky, Christina, Smith, Emily, Spoonamore, Katherine, Larsen Haidle, Joy, Marvin, Monica, Ackerman, Michael J, Hadi, Azam, Mani, Arya, Ommen, Steven, Cherny, Sara

“…Recent advances in genetic testing for heritable cardiac diseases have led to an increasing involvement of the genetic counselor in cardiology practice. We…”
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Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation by Heald, Brandie, Rigelsky, Christina, Moran, Rocio, LaGuardia, Lisa, O'Malley, Margaret, Burke, Carol A., Zahka, Kenneth

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Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices by Heald, Brandie, Rybicki, Lisa, Clements, Diane, Marquard, Jessica, Mester, Jessica, Noss, Ryan, Nardini, Monica, Polk, Jill, Psensky, Brittany, Rigelsky, Christina, Schreiber, Allison, Shealy, Amy, Smith, Marissa, Eng, Charis

“…With genomics influencing clinical decisions, genetics professionals are exponentially called upon as part of multidisciplinary care. Increasing demand for…”
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LOW YIELD OF GENETIC TESTING FOR KNOWN VASCULAR CONNECTIVE TISSUE DISORDERS AMONG PATIENTS WITH FIBROMUSCULAR DYSPLASIA by Poloskey, Stacey L, Kim, Soo Hyun, Sanghani, Ruchi, Al-Quthami, Adeeb, Arscott, Patricia, Moran, Rocio, Rigelsky, Christina, Gornik, Heather

“…Clinical Feature No Genetic Testing Done (N=164) Genetic Testing Done (N=33) X2 P-value Prior Arterial or Aortic Dissection 19.0% 63.6% <0.001 Aortic Aneurysm…”
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LOW YIELD OF GENETIC TESTING FOR KNOWN VASCULAR CONNECTIVE TISSUE DISORDERS AMONG PATIENTS WITH FIBROMUSCULAR DYSPLASIA by Poloskey, Stacey L., Kim, Soo Hyun, Sanghani, Ruchi, Al-Quthami, Adeeb, Arscott, Patricia, Moran, Rocio, Rigelsky, Christina, Gornik, Heather

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