marfan sendromu ve kalp
Bağ doku hastalığıdır isklelet kardiyovasküler ve gözlerde tutulum vardır. ektopia lentis, miyop, glokom vb olabilir.
Sinüs valsalva dilatasyonu, çıkan aorta dilatasyonu (diseksiyon veya rüptür) ve aort kapak yetmezliği vardır.
Mitral kapak proplapsusu ve mitral yetmezlik
Korda tendinea rüptürü, abdominal aorta veya koroner arter proksimalinde anverizmal genişleme
Mitral ve aort kapak yetmezliği üfürümü vardır. PA dilate ise S2 de sertleşme olabilir.
EKG: birinci derecede AV blok, sol ventrikül hipertrofisi bulguları
GRAFİDE: aort ve PA belirgin, LA ve LV geniş
MARFAN SENDROMUNDA ERKEN ÖLÜM AORT DİSEKSİYONU, CİDDİ AY ve MY sonucunda olur. Bunun için medikal ve cerrahi tedavi zamanında yapılmalıdır.
Aort kökü boyutu normalin üst sınırını aştığında B BLOKER (propranolol, atenolol) ve/veya ACEİ (özellikle losartan) kullanılır bunların dilatasyonu azaltır ve komplikasyonları azaltır.
******aort diseksiyonu veya rüptürü durumunda opere edilmelidir. Merkezden merkeze farklılık vardır aort kökü çapı 3.5 cm geçtiğinde, yaş grubu için beklenen değerin 2 katı kadar ise cerrahi önerilmektedir. Aortic aneurysm and dissection can be life threatening conclude that (1) aortic root dilatation is the most common surgical indication in children with Marfan's syndrome, (2) mitral regurgitation is the second most common indication, (3) aortic dissection is unusual in children with Marfan's syndrome,
The most common cardiovascular complication in patients with MFS is progressive aortic root enlargement initially occurring at the sinuses of Valsalva. Ascending aortic aneurysm can precipitate acute type A aortic dissection, aortic rupture, aortic regurgitation (AR), or all 3, and these complications were the primary cause of death before the advent of successful preventive therapie The majority of patients with MFS present with enlargement of the ascending aorta or a type A dissection. Rarely, a patient presents with a type B dissection involving the descending thoracic aorta
The traditional threshold that prompts the consideration of prophylactic aortic root replacement in patients with MFS has been predicated on aortic size and recommended when the ***diameter reaches 5.0 cm. The association between increased aneurysm diameter and the risk for dissection or rupture is clearly established, and aneurysm size >6 cm portends a 4-fold increase in the cumulative risk of aortic rupture or dissection in patients with MFS. Factors that will prompt the recommendation for surgery when the aorta is <5.0 cm="" include="" rapid="" growth="" of="" the="" aortic="" diameter="">1 cm/year), a ***family history of premature aortic dissection (dissection <5 cm="" and="" the="" presence="" of="" greater-than-mild="" ar="" b="">
Some experienced thoracic aortic surgical centers use a ratio of 2x, in which the diameter of the enlarged aortic segment is in the numerator and normal contiguous aorta is in the denominator, to trigger consideration of prophylactic aortic root replacement, but prospective validation of this approach is needed.