Title : Successful treatment of sinus of valsalva aneurysm
Abstract:
This case study integrates the relationship between connective tissue dysfunction and the formation of aortic aneurysms, emphasizing the molecular basis and its clinical expression. These types of disorders, mainly represented by Marfan and Loeys-Dietz syndromes, are hereditary connective tissue pathologies with an autosomal dominant pattern that compromise vascular architecture from early stages of life. In both cases, the dysfunction is caused by mutations in the TGF-B pathway.
On physical examination, patients may present with
- Holodiastolic or even continuous murmurs
- Clinical picture of heart failure: crackles, peripheral edema, increased venous pressure
(jugular plenitude, hepatoyugular reflux) - Elevated pulse pressure
- Hypotension and hypoperfusion
- Tachycardia
The diagnosis can be made by transthoracic or transesophageal echocardiography, CT angiography, magnetic resonance imaging, or catheterization. Treatment consists of controlling blood pressure and preventing the patient from lifting heavy loads until they are stable for surgery. In the event of rupture,blood pressure and heart failure or cardiogenic shock must be controlled if present. In the case of hereditary syndromes affecting the aorta, such as Marfan and Loeys-Dietz.
An analytical-descriptive case study was conducted, focusing on the pathophysiological correlation between hereditary connective tissue disorders and the formation of aortic aneurysms.Patient: 21-year-old male, 1.84 m tall and thin build (weight 57-61 kg). The patient was presented at a Medical-Surgical Cardiology Session where, due to the dual diagnosis of Marfan and Loeys-Dietz syndromes and an aneurysmal diameter of 49.1 mm, the decision was made to indicate surgical correction.
The surgical plan consisted of two procedures:
1. Uniportal Thoracoscopic Bullectomy + Pleurodesis: Performed on 06/21/24 to resect the pulmonary bullae of the right upper lobe and prevent recurrent pneumothorax. The pleural drain was removed
2. Bentall Procedure (Aortic Root Replacement with Valved Graft): implanting a 26 mm aortic Dacron valved graft with a mechanical prosthetic valve.
Aneurysms at the base of the aorta are extremely dangerous because they can go unnoticed until they rupture, causing blood to leak into the chest cavity, pericardium, or heart chambers. In addition,dilation of the aneurysm can lead to chronic aortic valve insufficiency.
This clinical case comprehensively demonstrates the pathophysiological relationship between hereditary connective tissue diseases, such as Marfan and Loeys-Dietz syndromes, and the development of progressive aortic aneurysms. The coexistence of both syndromes in the same patient not only led to severe multisystem involvement, but also accelerated the surgical indication by meeting the strictest criteria for intervention, particularly those applicable to Loeys-Dietz syndrome.
