ISSN 0326-646X
 

 
 
 
 
 
 
 
 

 
 

1024x768

 
 
 
 
 
 

Sumario Vol. 42 - Nº 2 Abril - Junio 2013

Aortic Aneurysm in Marfan Syndrome

Geovedy Martínez-García, Nadia Sánchez-Torres,
Liz Cruz-Rodríguez, Yoanis Cárdenas-Fernández,
Alberto Hernández-González

Servicio de Cardiología, Hospital Central "Dr. Carlos Juan Finlay".
Corrales 463 e/ Ángeles e Indio, Habana Vieja.
Ciudad de La Habana (10200), Cuba.
Correo electrónico

The authors declare not having a conflict of interest.
Rev Fed Arg Cardiol. 2013; 42(2): 157-158
 


Print version Imprimir sólo la columna central

 

61-year-old male patient, with history of right pulmonary abscess and myocardial infarction. He consulted because of shortness of breath for three months and sweating, tachycardia and concomitant precordial pain.

In the physical examination, 2.10 meters of height is verified, long and thin limbs, arachnodactyly, positive thumb and wrist sign, flat feet, decreased adipose panniculus, pectus carinatum with decrease of expansibility. He presents superficial polypnea with bibasilar crackles, more pronounced in the left hemithorax, irregular and jumpy pulse, wide apex beat, and shifted outside the midclavicular line, muffled first sound and systodiastolic murmur in the left sternal edge with predominance of diastolic component.

Transthoracic echo (Figure 1) shows dilated ascending aorta, with pyriform aspect, with diameter of 65 mm, non-dilated aortic annulus and normal aortic arch (34 mm), with mild left ventricular hypertrophy and preserved systolic function of the left ventricle (LV) (Teich: 69%; longitude-area: 50%). Cardiac Doppler echo reveals severe aortic insufficiency with mild aortic stenosis.

Figure 1.

 

During cardiac catheterization (Figure 2), the coronary arterial tree could not be catheterized because of the extreme aneurysmatic dilatation of the aortic root. Computerized tomography (Figure 3) showed the aneurysmatic dilatation of the ascending aorta that is 57 mm in its longitudinal section and 60 mm in the transversal one, without involving the supra-aortic vessels.

Figure 2.

 

Figure 3.

 

According to the new diagnostic criteria for Marfan Syndrome published in 2010 [1], that arise from the review of the classical Ghent criteria, the phenotype of the patient characterizes the diagnosis of Marfan syndrome.

According to the reviewed Ghent criteria, in the presence of dilatation (Z≥2) or aortic dissection, absence of ectopia lentis and molecular study of the FBN1 state unknown or negative, as in this case, the diagnosis will be made with the presence of enough systemic findings (≥7 points according to a score) and ruling out other entities with similar phenotypes. When complying with the premise of a ≥7 points score and clinically ruling out the Ehlers-Danlos and Loeys-Dietz syndromes, the conclusion is drawn that the patient is carrier of Marfan syndrome.

The diagnosis of this entity is usually made during childhood and adolescence [2-6], so the late diagnosis of the presented case stands out, in spite of the patient having made prior medical visits, which leads us to think about the lack of clinical suspicion.

 

 

REFERENCES

  1. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47 (7): 476-85.
  2. Von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007; 93 (6): 755-760.
  3. Lebreiro A, Martins E, Cruz C, et al. Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy. Rev Port Cardiol 2010; 29 (6): 1021-1036.
  4. Sohn GH, Jang SY, Moon JR, et al. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging 2011; 27 (5): 679-688.
  5. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome: diagnosis and management. Curr Probl Cardiol 2008; 33 (1): 7-39.
  6. Pearson GD, Devereux R, Loeys B, et al; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation 2008; 118 (7): 785-791.

Publication: June 2013

 
Editorial Electrónica
de FAC




 
8vo. Congreso Virtual de Cardiología

1º Setiembre al
30 Noviembre, 2013
 

 
XXXI Congreso Nacional de Cardiología

30-31 Mayo,
1º Junio, 2013
Organiza: Región Patagónica
 

 
Búsquedas
Revista de FAC

gogbut

Contenidos Científicos
y Académicos

gogbut

 

 
Accesos rapidos