Gretchen MacCarrick

2024

Abnormal Cardiac Magnetic Resonance-Derived Ascending Aortic Area Strain Demonstrates Altered Ventriculo-Vascular Function in Marfan Syndrome

Jacquemyn, X., Cordrey, K., Van Den Eynde, J., Guerrerio, A. L., Maccarrick, G., Dietz, H. C. & Kutty, S., Sep 1 2024, In: Journal of thoracic imaging. 39, 5, p. 319-327 9 p.

Research output: Contribution to journal › Article › peer-review

Cardiovascular and obstetrical outcomes among delivering patients with Marfan or Loeys-Dietz syndrome: a retrospective analysis by hospital delivery setting

Whelan, A. R., Thorsen, M. M., MacCarrick, G. & Russo, M. L., Apr 2024, In: American Journal of Obstetrics and Gynecology MFM. 6, 4, 101340.

Research output: Contribution to journal › Article › peer-review

Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination

Guerrerio, A. L., Mateja, A., MacCarrick, G., Fintzi, J., Brittain, E., Frischmeyer-Guerrerio, P. A. & Dietz, H. C., Dec 2024, In: PloS one. 19, 12, e0315499.

Research output: Contribution to journal › Article › peer-review

Open Access

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

MacCarrick, G., Aradhya, S., Bailey, M., Chu, D., Hunt, A., Izzo, E., Krakow, D., Mackenzie, W., Poll, S., Raggio, C., Shediac, R., White, K. K., McLaughlin, H. M. & Seratti, G., Sep 2024, In: American Journal of Medical Genetics, Part A. 194, 9, e63646.

Research output: Contribution to journal › Article › peer-review

Open Access

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Drackley, A., Somerville, C., Arnaud, P., Baudhuin, L. M., Hanna, N., Kluge, M. L., Kotzer, K., Boileau, C., Bronicki, L., Callewaert, B., Cecchi, A., Dietz, H., Guo, D., Harris, S., Jarinova, O., Lindsay, M., Little, L., Loeys, B., MacCarrick, G. & Meester, J. & 11 others, Milewicz, D., Morisaki, T., Morisaki, H., Murdock, D., Renard, M., Richer, J., Robert, L., Ouzounian, M., Van Laer, L., De Backer, J. & Muiño-Mosquera, L., Dec 2024, In: Genome Medicine. 16, 1, 154.

Research output: Contribution to journal › Article › peer-review

Open Access

Recurrent perforation of an implantable cardioverter-defibrillator lead in a patient with vascular Ehlers-Danlos syndrome

Lee, K., Liskov, S., Lakdawala, N. K., MacCarrick, G., Dietz, H. C. & Barth, A. S., 2024, (Accepted/In press) In: HeartRhythm Case Reports.

Research output: Contribution to journal › Article › peer-review

Open Access

Support and resources for patients with aortic disease

Shinske, A. D., Hostetler, E., Fowler, C., Owens, G., Campos, C., Hilton, V. & MacCarrick, G., Jun 2024, In: Vascular Medicine (United Kingdom). 29, 3, p. 362-366 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

The utilization of genetic counselors by patient support groups

Roulston, S., Raraigh, K., Malinowski, A. & MacCarrick, G., Jun 2024, In: Journal of Genetic Counseling. 33, 3, p. 506-514 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Vascular Disease Patient Information Page: Coping with a serious vascular disease diagnosis

Sorrell, A., Martin, C. D., Ruiz, M., Bates, M. J., Degner, B., MacCarrick, G. & Sears, S. F., Feb 2024, In: Vascular Medicine (United Kingdom). 29, 1, p. 99-102 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Web-based survey investigating cardiovascular complications in hypermobile Ehlers-Danlos syndrome after COVID-19 infection and vaccination

Guerrerio, A. L., Mateja, A., MacCarrick, G., Fintzi, J., Brittain, E., Frischmeyer-Guerrerio, P. A. & Dietz, H. C., Mar 2024, In: PloS one. 19, 3 March, e0298272.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature

Alawneh, R. J., Johnson, A. L., Hoover-Fong, J. E., Jackson, E. M., Steinberg, J. & MacCarrick, G., Aug 2023, In: Cleft Palate Journal. 60, 8, p. 1021-1028 8 p.

Research output: Contribution to journal › Article › peer-review

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review

Shabani, M., Abdollahi, A., Brar, B. K., MacCarrick, G. L., Ambale Venkatesh, B., Lima, J. A. C. & Bodurtha, J., Mar 2023, In: Clinical Genetics. 103, 3, p. 261-267 7 p.

Research output: Contribution to journal › Review article › peer-review

Vascular Disease Patient Information Page: Genetic testing for inherited vascular diseases associated with aneurysm and dissection

MacCarrick, G. & Ratchford, E. V., Dec 2023, In: Vascular Medicine (United Kingdom). 28, 6, p. 618-622 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Accurate assignment of disease liability to genetic variants using only population data

Collaco, J. M., Raraigh, K. S., Betz, J., Aksit, M. A., Blau, N., Brown, J., Dietz, H. C., MacCarrick, G., Nogee, L. M., Sheridan, M. B., Vernon, H. J., Beaty, T. H., Louis, T. & Cutting, G. R., Jan 2022, In: Genetics in Medicine. 24, 1, p. 87-99 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 100-109 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 16-34 19 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Assessment of pleural pressure during sleep in Marfan syndrome

Sowho, M., Jun, J., Sgambati, F., Potocki, M., Schneider, H., Smith, P., Schwartz, A., Dietz, H., MacCarrick, G. & Neptune, E., Jun 2022, In: Journal of Clinical Sleep Medicine. 18, 6, p. 1583-1592 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

D-dimer in Marfan syndrome: effect of obstructive sleep apnea induced blood pressure surges

Sowho, M., Schneider, H., Jun, J., MacCarrick, G., Schwartz, A., Pham, L., Sgambati, F., Lima, J., Smith, P., Polotsky, V. & Neptune, E., May 2022, In: American Journal of Physiology - Heart and Circulatory Physiology. 322, 5, p. H742-H748

Research output: Contribution to journal › Article › peer-review

Open Access

Executive Summary of the Aortic Dissection (AD) Collaborative

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 7-8 2 p.

Research output: Contribution to journal › Editorial › peer-review

Lived experiences of people with or at risk for aortic dissection: A qualitative assessment

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 78-87 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

Fry, D., Groepper, D., MacCarrick, G., Demo, E. M., Thomas, M. J., Wilkes, M. J., Lyons, M. J., Tucker, M. E., Steding, C. & Fleischer, J., Jul 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2237-2241 5 p.

Research output: Contribution to journal › Article › peer-review

Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

Guerrerio, A. L., Mateja, A., Rasooly, M., Levin, S., Magnani, A., Dempsey, C., MacCarrick, G., Dietz, H. C., Brittain, E., Boyce, A. M. & Frischmeyer-Guerrerio, P. A., Feb 2022, In: Genetics in Medicine. 24, 2, p. 419-429 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Stakeholder perspectives on education in aortic dissection

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 69-77 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

The Aortic Dissection Collaborative: Methods for building capacity for patient-centered outcomes research in the aortic dissection community

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 9-15 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

The mental health impact of aortic dissection

Aortic Dissection Collaborative, Mar 2022, In: Seminars in vascular surgery. 35, 1, p. 88-99 12 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

2021

Association of sleep apnoea risk and aortic enlargement in Marfan syndrome

Sowho, M., MacCarrick, G., DIetz, H., Jun, J., Schwartz, A. R. & Neptune, E. R., Nov 15 2021, In: BMJ Open Respiratory Research. 8, 1, 000942.

Research output: Contribution to journal › Article › peer-review

Open Access

Toward precision medicine in vascular connective tissue disorders

Ziegler, S. G., MacCarrick, G. & Dietz, H. C., Nov 2021, In: American Journal of Medical Genetics, Part A. 185, 11, p. 3340-3349 10 p.

Research output: Contribution to journal › Article › peer-review

2020

Blood pressure in adults with short stature skeletal dysplasias

Hoover-Fong, J., Alade, A. Y., Ain, M., Berkowitz, I., Bober, M., Carter, E., Hecht, J., Hoerschemeyer, D., Krakow, D., MacCarrick, G., Mackenzie, W. G., Mendoza, R., Okenfuss, E., Popplewell, D., Raggio, C., Schulze, K. & McGready, J., Jan 1 2020, In: American Journal of Medical Genetics, Part A. 182, 1, p. 150-161 12 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Hereditary connective tissue disorders

Murdock, D. R., Dietz, H. C. & MacCarrick, G., Jan 1 2020, Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach. Elsevier, p. 127-145 19 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Recruitment, retention, and adherence in a clinical trial: The Pediatric Heart Network’s Marfan Trial experience

for the Pediatric Heart Network Investigators, Dec 1 2020, In: Clinical Trials. 17, 6, p. 684-695 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome

Frischmeyer-Guerrerio, P. A., MacCarrick, G., Dietz, H. C., Stewart, F. D. & Guerrerio, A. L., Mar 12 2020, In: BMC Gastroenterology. 20, 1, 71.

Research output: Contribution to journal › Article › peer-review

Open Access

Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires

Sowho, M. O., Patil, S., Schneider, H., MacCarrick, G., Kirkness, J., Wolfe, L. F., Sterni, L., Cistulli, P. A. & Neptune, E. R., Jan 1 2020, In: Molecular Genetics and Genomic Medicine. 8, 1, e1039.

Research output: Contribution to journal › Article › peer-review

Open Access

2019

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Luyckx, I., MacCarrick, G., Kempers, M., Meester, J., Geryl, C., Rombouts, O., Peeters, N., Claes, C., Boeckx, N., Sakalihasan, N., Jacquinet, A., Hoischen, A., Vandeweyer, G., Van Lent, S., Saenen, J., Van Craenenbroeck, E., Timmermans, J., Duijnhouwer, A., Dietz, H. & Van Laer, L. & 2 others, Loeys, B. & Verstraeten, A., Jul 1 2019, In: European Journal of Human Genetics. 27, 7, p. 1044-1053 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Demo, E., Rigelsky, C., Rideout, A. L., Graf, M., Pariani, M., Regalado, E. & MacCarrick, G., Nov 2019, In: Medical Clinics of North America. 103, 6, p. 1005-1019 15 p.

Research output: Contribution to journal › Review article › peer-review

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Baylor-Hopkins Center for Mendelian Genomics & MIBAVA Leducq Consortium, Jan 1 2019, In: Nature genetics. 51, 1, p. 42-50 9 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

33 Scopus citations

2018

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G. & Meester, J. & 22 others, Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., May 2018, In: Human mutation. 39, 5, p. 621-634 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

49 Scopus citations

To the editor

Ayoubieh, H. & Maccarrick, G., 2018, In: Cleveland Clinic journal of medicine. 85, 9, p. 661-662 2 p.

Research output: Contribution to journal › Letter › peer-review

2017

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

Morales, A., Allain, D. C., Arscott, P., James, E., MacCarrick, G., Murray, B., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald-Butt, S. M., Kushner, J. D., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Kay, W. A., Aug 1 2017, In: Journal of Genetic Counseling. 26, 4, p. 669-688 20 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

2 Scopus citations

Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease (Journal of Genetic Counseling, (2017), 26, 4, (669-688), 10.1007/s10897-017-0081-z)

Morales, A., Allain, D. C., Arscott, P., James, E., MacCarrick, G., Murray, B., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald-Butt, S. M., Kushner, J. D., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Aaron Kay, W., Aug 1 2017, In: Journal of Genetic Counseling. 26, 4, p. 689 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Management of Scoliosis in Patients with Loeys-Dietz Syndrome

Bressner, J. A., Maccarrick, G. L., Dietz, H. C. & Sponseller, P. D., 2017, In: Journal of Pediatric Orthopaedics. 37, 8, p. e492-e499

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

2016

Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGFb

Guerrerio, A. L., Frischmeyer-Guerrerio, P. A., Huang, C., Wu, Y., Haritunians, T., McGovern, D. P. B., MacCarrick, G. L., Brant, S. R. & Dietz, H. C., Aug 10 2016, In: Inflammatory bowel diseases. 22, 9, p. 2058-2062 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access