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  2. Keyword: Marfan syndrome
Figure 1
ABC
Case Report

Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death

Diana Carvalho et al. Simão Carvalho Adriana Pacheco Carlos Costa … Pedro Carvalho Raquel Ferreira Ana Briosa

Introduction

Marfan syndrome (MS) is a systemic disease of the connective tissue with an autosomal dominant transmission, usually associated with a mutation in the fibrillin 1 gene (FBN1). The estimated prevalence is 6.5/100,000. According to the revised Ghent criteria, mutation in the FBN1 gene, lens ectopy, and aortic root dilation are the key factors for the diagnosis of MS., Life expectancy is essentially determined by cardiovascular complications, particularly aortopathy.

[…]

  • Cardiac Arrhythmias
  • Cardiac Sudden Death
  • Hypertrophic Cardiomyopathy
  • Marfan syndrome
  • Mitral Valve Prolapse
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Creative Commons Attribution (CC BY) Creative Commons license
14/10/2024 DOI: 10.36660/abc.20230489i Views 1
IJCS
Case Report

Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete

Fabrissio Portelinha Graffunder et al. Sabrina Weiss Sties Ana Inês Gonzáles Tales de Carvalho

Introduction

Marfan syndrome (MFS) is an autosomal dominant hereditary disease mainly caused by mutations in the fibrillin-1 (FBN1) gene. It is characterized by the occurrence of thoracic aortic aneurysm and/or dissection, ectopia lentis, and systemic abnormalities.

The highest risk of death associated with the syndrome is attributed to cardiovascular abnormalities, in particular, progressive aortic root aneurysm, leading to aortic dissection and rupture if not corrected surgically. The clinical diagnosis of MFS may be established by the revised Ghent nosology, although this can be challenging, since many characteristics of this disease are dependent on the age of the patient, while others are frequently seen in the general population, with substantial phenotypic variability. In addition, MFS has considerable overlap with other connective tissue diseases.,

[…]

  • Aortic Diseases
  • Aortic Rupture
  • Athletes
  • Cardiovascular Diseases
  • Exercise
  • Marfan syndrome
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01/01/2017 DOI: 10.5935/2359-4802.20170036
Figure 1
ABC
Anatomopathological Session

Case 6/2015 – 40-Year-Old Female with Acute Chest Pain, Dyspnea and Shock

Gonçalves Daiana Zupirolli et al. Gutierrez Paulo Sampaio

Clinical aspects

The patient is a 40-year-old female with aortic dissection, hypovolemic shock and death. She had arterial hypertension and HELLP syndrome in pregnancy, which is characterized by hemolysis, increased liver enzymes and low platelet count.

The following are considered risk factors for aortic dissection: a) arterial hypertension; b) Marfan’s syndrome; c) bicuspid aortic valve; d) Turner’s syndrome; e) pregnancy. In a study on the postmortem examinations performed at InCor between 1998 and 2007, 82 cases of aortic dissection were diagnosed. Most dissections were associated with other diseases, mainly arterial hypertension present in 73/82 cases (90%). Other diseases related were Marfan’s syndrome, other connective tissue diseases, bicuspid aortic valve and trauma related to thoracic surgeries. Another study assessing the postmortem examination of 161 patients with aortic dissection has reported arterial hypertension in 93/161 (57.7%) cases. Other causes found were Marfan’s syndrome (16 cases), atherosclerosis of the aorta (38) and degeneration of the aorta (30). Other less prevalent risk factors were bicuspid aortic valve, Turner’s syndrome, aortic coarctation and pregnancy. However, the likelihood of aortic dissection due to aortic coarctation is related to the coexistence of arterial hypertension or congenital bicuspid aortic valve. Although pregnancy is considered a spontaneous risk factor for aortic dissection, that mechanism is uncommon, being 25% to 50% of the cases concomitantly associated with hypertension.

[…]

  • Aortic Diseases / surgery
  • Aortic Dissection / surgery
  • Hypertension
  • Marfan syndrome
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01/12/2015 DOI: 10.5935/abc.20150145
Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction
ABC
Case Report

Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction

Wladimir Musetti Medeiros et al. Paulo Alberto Peres Antônio Carlos Carvalho Carlos Gun Fábio Augusto De Luca

Marfan syndrome (MS) is an autosomal dominant disorder that affects multiple organs and systems. Several cardiac alterations are present, with the main ones being aortic root and ascending aorta dilatation, mitral valve prolapse and left ventricle (LV) dilatation. Aerobic exercise has not shown to be a non-drug therapy that promotes anti-remodeling effect in patients with heart failure. This case report describes the echocardiographic changes in a patient with Marfan syndrome during four years of cardiovascular physical therapy.

  • Cardiomegaly
  • Exercise
  • Marfan syndrome
  • Ventricular Dysfunction, Left
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21/06/2012 DOI: 10.1590/S0066-782X2012000400015 Views 1
Serial clinical and echocardiographic evaluation in children with Marfan syndrome
ABC
Artigo Original

Serial clinical and echocardiographic evaluation in children with Marfan syndrome

Victor Manuel Oporto Lopez et al. Ana Beatriz Alvarez Perez Valdir Ambrósio Moisés Lourdes Gomes … Patricia da Silveira Pedreira Célia C. Silva Orlando Campos Filho Antônio Carlos C. Carvalho

OBJECTIVE: To describe the clinical cardiac manifestations and temporal evolution of Marfan syndrome in children; to estimate the incidence of annuloaortic ectasia and mitral valve prolapse; and to evaluate tolerability and efficacy of beta-blockers in these patients. METHODS: During one year, 21children with Marfan syndrome underwent serial clinical and echocardiographic examinations. Echocardiograms assessed: the presence of mitral valve prolapse, aortic root diameter, mitral and aortic valves regurgitation, and aortic enlargement during beta-blocker therapy. Eleven patients had two measurements of the aortic root taken one year apart. RESULTS: The children were asymptomatic throughout the study. Mitral prolapse was found in 11 (52%) children. Annuloaortic ectasia occurred in 16 (76%) patients and found to be mild in 42.8%, moderate in 9.5%, and severe in 23.8%. One of these patients underwent aortic valve replacement and repair of the ascending aorta by the Bentall-De Bono technique, with good results. Heart rate decreased by 13.6% (from 85 to 73 bpm; p < 0.009) with the use of beta-blockers; however, aortic root diameter increased by 1.4 mm/year (p<0.02). One child could not be given beta-blockers due to bronchial asthma, and no significant side effects were observed in the remaining children, including one who also had bronchial asthma. CONCLUSION: The children remained asymptomatic throughout the study, the use of beta-blockers led to a significant decrease in heart rate, and no significant adverse effects were observed. Contrary to the literature, incidence of annuloaortic ectasia was high among the study population, greater than that of mitral valve prolapse, even during beta-blocker therapy.

  • Doppler Echocardiography
  • Marfan syndrome
  • Mitral Valve Prolapse
  • thoracic aortic aneurysm
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05/12/2005 DOI: 10.1590/S0066-782X2005001800003

How to cite this article

EndNote RIS

Electronic Document Format (Vancouver)

Carvalho D, Carvalho S, Pacheco A, Costa C, Carvalho P, Ferreira R, Briosa A, et al. Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death. Arquivos Brasileiros de Cardiologia 2024;121(5):e20230489.

Electronic Document Format (ABNT)

Carvalho, Diana; Carvalho, Simão; Pacheco, Adriana; Costa, Carlos; Carvalho, Pedro; Ferreira, Raquel; Briosa, Ana. Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death. Arquivos Brasileiros de Cardiologia, v. 121, n. 5, e20230489, Oct. 2024.

Electronic Document Format (APA)

Carvalho, D., Carvalho, S., Pacheco, A., Costa, C., Carvalho, P., Ferreira, R., & Briosa, A. (2024). Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death. Arquivos Brasileiros de Cardiologia, 121(5), e20230489.

Electronic Document Format (ISO)

Carvalho, Diana and Carvalho, Simão and Pacheco, Adriana and Costa, Carlos and Carvalho, Pedro and Ferreira, Raquel and Briosa, Ana. Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death. Arquivos Brasileiros de Cardiologia [online]. 2024, vol. 121, n. 5, [cited 2026-10-14], e20230489. Available from: <https://journals.cardiol.br/en/article/marfan-syndrome-hypertrophic-cardiomyopathy-and-long-qt-a-rare-association-causing-sudden-death/>. ISSN 0066-782X

EndNote RIS

Electronic Document Format (Vancouver)

Graffunder FP, Sties SW, Gonzáles AI, Carvalho T. Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete. International Journal of Cardiovascular Sciences 2017;30(2):181-4.

Electronic Document Format (ABNT)

Graffunder, Fabrissio Portelinha; Sties, Sabrina Weiss; Gonzáles, Ana Inês; Carvalho, Tales de. Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete. International Journal of Cardiovascular Sciences, v. 30, n. 2, p. 181-184, Dec. 2016.

Electronic Document Format (APA)

Graffunder, F. P., Sties, S. W., Gonzáles, A. I., & Carvalho, T. (2017). Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete. International Journal of Cardiovascular Sciences, 30(2), 181-184.

Electronic Document Format (ISO)

Graffunder, Fabrissio Portelinha and Sties, Sabrina Weiss and Gonzáles, Ana Inês and Carvalho, Tales de. Differential Diagnosis of Marfan Syndrome in a Teenage Volleyball Athlete. International Journal of Cardiovascular Sciences [online]. 2017, vol. 30, n. 2, [cited 2026-10-14], pp. 181-184. Available from: <https://journals.cardiol.br/en/article/differential-diagnosis-of-marfan-syndrome-in-a-teenage-volleyball-athlete/>. ISSN 2359-4802

EndNote RIS

Electronic Document Format (Vancouver)

Zupirolli GD, Sampaio GP. Case 6/2015 – 40-Year-Old Female with Acute Chest Pain, Dyspnea and Shock. Arquivos Brasileiros de Cardiologia 2015;105(6):637-41.

Electronic Document Format (ABNT)

Zupirolli, Gonçalves Daiana; Sampaio, Gutierrez Paulo. Case 6/2015 – 40-Year-Old Female with Acute Chest Pain, Dyspnea and Shock. Arquivos Brasileiros de Cardiologia, v. 105, n. 6, p. 637-641, Nov. 2015.

Electronic Document Format (APA)

Zupirolli, G. D., & Sampaio, G. P. (2015). Case 6/2015 – 40-Year-Old Female with Acute Chest Pain, Dyspnea and Shock. Arquivos Brasileiros de Cardiologia, 105(6), 637-641.

Electronic Document Format (ISO)

Zupirolli, Gonçalves Daiana and Sampaio, Gutierrez Paulo. Case 6/2015 – 40-Year-Old Female with Acute Chest Pain, Dyspnea and Shock. Arquivos Brasileiros de Cardiologia [online]. 2015, vol. 105, n. 6, [cited 2026-10-14], pp. 637-641. Available from: <https://journals.cardiol.br/en/article/case-6-2015-40-year-old-female-with-acute-chest-pain-dyspnea-and-shock/>. ISSN 0066-782X

EndNote RIS

Electronic Document Format (Vancouver)

Medeiros WM, Peres PA, Carvalho AC, Gun C, Luca FAD. Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction. Arquivos Brasileiros de Cardiologia 2012;98(4):e70-3.

Electronic Document Format (ABNT)

Medeiros, Wladimir Musetti; Peres, Paulo Alberto; Carvalho, Antônio Carlos; Gun, Carlos; Luca, Fábio Augusto De. Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction. Arquivos Brasileiros de Cardiologia, v. 98, n. 4, p. e70-e73, Jun. 2012.

Electronic Document Format (APA)

Medeiros, W. M., Peres, P. A., Carvalho, A. C., Gun, C., & Luca, F. A. D. (2012). Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction. Arquivos Brasileiros de Cardiologia, 98(4), e70-e73.

Electronic Document Format (ISO)

Medeiros, Wladimir Musetti and Peres, Paulo Alberto and Carvalho, Antônio Carlos and Gun, Carlos and Luca, Fábio Augusto De. Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction. Arquivos Brasileiros de Cardiologia [online]. 2012, vol. 98, n. 4, [cited 2026-10-14], pp. e70-e73. Available from: <https://journals.cardiol.br/en/article/effect-of-a-physical-exercise-program-in-a-patient-with-marfan-syndrome-and-ventricular-dysfunction/>. ISSN 0066-782X

EndNote RIS

Electronic Document Format (Vancouver)

Lopez VMO, Perez ABA, Moisés VA, Gomes L, Pedreira PS, Silva CC, Campos Filho O, et al. Serial clinical and echocardiographic evaluation in children with Marfan syndrome. Arquivos Brasileiros de Cardiologia 2005;85(5):314-8.

Electronic Document Format (ABNT)

Lopez, Victor Manuel Oporto; Perez, Ana Beatriz Alvarez; Moisés, Valdir Ambrósio; Gomes, Lourdes; Pedreira, Patricia da Silveira; Silva, Célia C.; Campos Filho, Orlando; Carvalho, Antônio Carlos C.. Serial clinical and echocardiographic evaluation in children with Marfan syndrome. Arquivos Brasileiros de Cardiologia, v. 85, n. 5, p. 314-318, Dec. 2005.

Electronic Document Format (APA)

Lopez, V. M. O., Perez, A. B. A., Moisés, V. A., Gomes, L., Pedreira, P. S., Silva, C. C., Campos Filho, O., & Carvalho, A. C. C. (2005). Serial clinical and echocardiographic evaluation in children with Marfan syndrome. Arquivos Brasileiros de Cardiologia, 85(5), 314-318.

Electronic Document Format (ISO)

Lopez, Victor Manuel Oporto and Perez, Ana Beatriz Alvarez and Moisés, Valdir Ambrósio and Gomes, Lourdes and Pedreira, Patricia da Silveira and Silva, Célia C. and Campos Filho, Orlando and Carvalho, Antônio Carlos C.. Serial clinical and echocardiographic evaluation in children with Marfan syndrome. Arquivos Brasileiros de Cardiologia [online]. 2005, vol. 85, n. 5, [cited 2026-10-14], pp. 314-318. Available from: <https://journals.cardiol.br/en/article/serial-clinical-and-echocardiographic-evaluation-in-children-with-marfan-syndrome/>. ISSN 0066-782X

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