Brothers In Arms Earned In Blood Crack 1.03
Mina Spartin
Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients.
Marfan syndrome (MFS) is a genetic disease with autosomal dominant transmission, usually related to a mutation in the fibrillin gene type 1. The possibility of cardiovascular complications justifies a systematic family screening when a case is discovered [1]. This syndrome is characterized by musculoskeletal, cardiovascular and ocular damages. Its diagnosis is based on the Ghent criteria [2] which are of great importance in a context where the genetic study is inaccessible, expensive with a long waiting time of results.
Taking as a base the new Ghent criteria [2], we conducted a family screening from an index patient in whom the diagnosis of MFS was made. The objectives were to look for clinical anomalies characteristics of MFS and detect cardiovascular complications related, in the family.
We were interested in relatives of a patient with MFS and cardiovascular damage, at the Teaching Hospital Aristide Le Dantec in Dakar, from January to March 2015. Patients had to be in the same uterine siblings of the index case. Their descendants were also included. Relatives who refused to participate in the study were not included. We identified the siblings of the index case and had made a briefing on the MFS and its complications. The objectives of the work were specified and the consent of the subjects required. Subsequently, subjects were examined clinically and complementary explorations carried out. Computed tomography was made in a case of anomaly indicating namely the dilation of an aortic segment or the existence of an aortic dissection.
The following constants and anthropometric data: weight, height, body mass index, waist circumference, blood pressure in both arms, the arm span on height ratio, the upper segment on the lower segment (US / LS).
The review was done by a single operator who was looking for dilation, with or without aortic dissection. The measurements were carried out successively in longitudinal section major axis (aortic root), in the supra-sternal cut (butt) and sectional subcostal (abdominal aorta). We also were interested in valvular structures in search of ballooning or prolapse, valvular leakage. Cavitary dimensions were also appreciated as the systolic function of both ventricles.
- The chest computed-tomography was done in a case of abnormalities of the aorta Doppler echocardiography. It specified dimensions of the aorta, the existence and extent of aortic dissection as well as its complications.
In total, six subjects were screened. All were male. The average age was 24 years, with extremes of 14 and 42 years. We reported three cases of sudden death in the family: mother and two half-brothers of the index case. Among these, the deaths had occurred in a context of physical effort and preceded by chest pain. One of the subjects was an active smoker of 6 packs per year. They were of low socioeconomic status and had no support. Three of them were students, two were fishermen and one was a gardener.
Images of aortic dissection of a patient. a Transthoracic echocardiography parasternal long axis view showing the dilation of aorta and the intimal flap; b Transthoracic echocardography parasternal long axis view showing a mitral valve prolapse; c Computed-tomography scan showing an aortic dissection; d Cardiac surgery of the patient
All patients in whom the diagnosis of MFS was retained ha a beta blocker. A subject (1 subject) had a surgical repair of aortic dissection by Bentall procedure with a good result in more than a year now. He is, moreover, under effective anticoagulation.
These include, among other things, the dolichostenomelia using the arm span on height ratio. This ratio normally equal to 1, is around 1.03 in 80% of patients and becomes a criterion from 1.05 [3]. In our work, this ratio was increased in 4/6 subjects. Signs of the thumb and wrist are the witnesses of the arachnodactyly as well as ligamentous laxity. [3] Regarding chest deformities, 2 subjects had kyphosis (subjects 4 and 5). Subjects with MFS have valgus flat feet since childhood [3, 4], a result of laxity. This sign was standing in the subjects studied.
Acetabular protrusion was found in 2 subjects. Kwang find them in 77% of reported cases. However, its presence does not have an impact on the final diagnosis because of its etiology which is variable and does not correlate to the presence of ectopia lentis or aortic disease [5]. Cardiovascular damage will determine the vital prognosis due to the risk of aortic dissection, often preceded by dilation and valvular disease [6]. They were described in 1943 by Bear, Tausig and Oppenheimer who reported two cases of sudden death in young adults with two dolichostenomelia and fusiform aneurysm of the ascending aorta. The histological examination had revealed the causal lesion of cardiovascular events like medial necrosis described by Gsell and Erdhein [7].
- The dilatation is important: it is considered that the risk is low (though not zero) when the aortic diameter at the sinuses of Valsalva remains below 50 mm. Similarly, it is outstanding in the absence of dilation. The aortic diameter is regarded as the most powerful predictor of aortic dissection [11];
A valve disease can also be observed in the MFS. The aortic type may be related to the dilation of the aortic root in the absence of valvular structural abnormality. There is, in fact, a misalignment of the semilunar aortic valve by the deformation of the aortic root. Aortic regurgitation can also complicate a proximal aortic dissection [12].
This prognostic improvement is the fact of several parameters. These include a better understanding of the disease, family screening but also the most accurate assessment of aortic risk authorized by imaging techniques such as transthoracic echocardiography and cardiac magnetic resonance imaging [15].
The family screening is crucial in Marfan syndrom. Diagnostic criteria have helped to detect the disease in 5 patients of 6. Similarly, it has revealed serious cardiovascular complications including sudden death and aortic dissection.
SAS initiated this study, was the operator who made the transthoracic echocardiography of all the patients and wrote this article. SD analyzed the results of this study, made the review of literature and wrote the article. FA and MB analyzed the results of the study, and helped for the screening of the family and other exams and interpretation. KB made the review of literature with SD, analyzed the results of this study with SD, did the translation of this article in English, made final corrections, submitted this article according to the review criteria and made the corrections after the reviewer comments. AAN and MD did the review of litterature, corrected this article and made contributions. SAB did the final corrections before the article be submitted. All authors read and approved the final manuscript.
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.
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