Olvera SV, Guerra MM, Pérez BG, Revilla RE, Jiménez SMÁ, Muñoz AH, Ruiz OMR

Language: Spanish
References: 8
Page: 399-402
PDF size: 239.97 Kb.

ABSTRACT

Background: The presence of two genetic syndromes, Marfan and Poland, in a same individual; an unreported condition in literature up to date. Marfan Syndrome, conditioned by mutations in the fibrillin-1 gene, includes severe cardiovascular complications, which lead to premature death, and the Poland Syndrome with an unknown etiology leads to alterations in the subclavian artery, causing agenesishypoplasia in the pectoralis major muscle and reduction defects in superior limbs.
Objective: Case Report: Marfan syndrome associated with Poland Syndrome, complicated by an aneurism in the ascendant aorta and severe aorta insufficiency in a 35-year-old male patient.
Material and methods: Case report, Hospital Regional de Alta Especialidad de Oaxaca. Patient male, 35 years old, with reported precordial pain for 3 months which progresses to orthopnea, with signs of congestive cardiac insufficiency and supraventricular paroxystic narrow complex tachycardia, increased height phenotype, and disproportionate segments, right luxation, and left crystalline subluxation, dolichoestenomelia, agenesis in the pectoralis major muscle, arachnodactyly left and ectrodactyly in right hand, ascending aorta aneurism and severe aorta insufficiency, scheduled for surgery to change valves and correct aorta aneurism with valved tube plus coronary reimplants. Dies post-operation due to hemorrhage.
Conclusions: This is the first report in literature of a Marfan-Poland association in which the coincidence of two independent etiological processes is suggested. To prevent cardiovascular complications, the use of beta-blockers is indicated, to avoid the appearance of aortic dilation or to stop the process once it has begun to reduce dissection risk.

REFERENCES

1. Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, et al. Comprehensive Genetic Analysis of Relevant Four Genes in 49 Patients with Marfan Syndrome or Marfan-Related Phenotypes. American Journal of Medical Genetics Part A, 2006; 140A: 1719–1725.

2. Blyth M, Foulds N, Turner C, Bunyan D. Severe Marfan syndrome due to FBN1 exon deletions. Am J Med Genet Part A 2008, 146A: 1320–1324.

3. Issaivanan, M, Virdi V.S, Parmar VR. Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. Indian J Pediat 2002;69441-69442.

4. Erol M, Caksen H, Tan O, Atik B, et al. Report of a girl with Klippel-Feil syndrome and Poland anomaly. Genet. Counsel 2004;15:469-472.

5. Bulent, Tayfun, Metin, Rohat K. Possibly New Multiple Congenital Anomaly Syndrome: Craneo-Fronto-Nasal Dysplasia with Poland anomaly, Am J Med Genet, 1996;65:222-225.

6. Dietz H, Miller C. Aortic disease en patients with Marfan Syndrome. Circulation 2005;111:150-7.

7. Meijboom LJ, Nollen GJ, Mulder BJM. Prevention of cardiovascular complications in the Marfan Syndrome. Vascular Disease Prevention 2004;1:79-86.

8. Steckmeier B, Epidemiology of aortic disease: aneurysm, dissection, oclusion. Radiology 2001;41:624-32.