Appendix A. Editorial comment Free

The article concerning acute type A dissection in pregnant Marfan patients published in the present issue of the EJCTS reflects, through the report of four cases observed over a period of 12 years, the yet often unresolved difficulties entailed by this accident and raises important questions related to its obstetrical and surgical management.

The first striking information brought by this article is the confirmation that despite a large literature dealing with the anatomical, genetic, orthopaedic, cardiovascular, ophthalmologic, obstetrical aspects of Marfan’s syndrome, this affection remains ignored as a general medical entity with social as well as individual consequences.

In the present report, despite the fact that Marfan’s syndrome had been diagnosed before pregnancy in the four patients, none received any preconceptional counselling regarding the risks of pregnancy and disease transmission to the offspring. Neither did the patients undergo any echographic monitoring of the aortic root size and evolution during pregnancy.

It is indeed quite dismaying to observe that, one century after the description of the syndrome by Antonin Marfan [1], 70 years after the recognition of its autosomal dominant inheritance, 50 years after the description of its various clinical aspects, 20 years after the first classification of the diagnostic criteria in Berlin and finally, 15 years after the discovery of the responsible genes and consequent mutations, the syndrome is not taken care of as a whole even in highly medically and technically developed countries. The cardiologist and the cardiac surgeon take care of the cardiovascular system, the orthopaedist takes care of the skeleton, the ophthalmologist takes care of the eyes but, either by ignorance or inability, or by fear to interfere with another specialty, very few of those specialists actually take care of the Marfan’s syndrome. The only specialists who may have a complete view of the problem are some clinical geneticists but most patients are never referred to them.

The solution is not in trying to change the practice of those various specialists who, obviously, cannot be aware of all the risks, disorders, complications of the syndrome and their relevant treatment.

It seems that the best solution is to organise in each country a certain number (one for 5–10 millions inhabitants?) of dedicated multidisciplinary outpatient clinics bringing together most of the relevant specialists including geneticists and psychologists. Ideally, all patients suspected of or already diagnosed with Marfan’syndrome should be referred and be examined by those various specialists in a limited time (one day) and the necessary exams, tests and biological assessments should be carried out at the same time. During regular common meetings, the specialists would define the actual diagnosis, exactly assess the clinical condition of the patient and map up a surveillance and treatment strategy. As importantly, this is the best way through which the patients and their relatives can get good, positive, encouraging information and counselling concerning their congenital and transmissible disorder.

Those Marfan outpatient clinics exist in several countries. But they are too often insufficient in number and very often overwhelmed by their workload so that patients have to wait months before getting a rendez-vous. One of our tasks is certainly to convince politicians and welfare organisations that those structures are needed, useful and efficacious and would certainly spare a great deal of economic resources and human catastrophes. In this regard the lobbying and help provided by the various national or international patients associations are of utmost importance.

The other important issue raised by the present study concerns the risk of acute type A aortic dissection in pregnant women (with or without Marfan’syndrome) and the therapeutic and ethical attitude required in presence of such an accident.

It is usual to state that pregnancy by itself represents a risk of acute dissection in any young woman and that this risk becomes very important in Marfan patients. It seems that this usual statement is erroneous.

Concerning Marfan patients, Peyritz [2] has reported, as early as 1981, that the risk of acute dissection during pregnancy was elevated only in patients with an aortic root diameter superior to 4 cm or in patients with a rapidly evolving aortic diameter enlargement. Those data have been confirmed by Rossiter et al. in the US [3], Immer et al. in Switzerland [4], Meijboom et al.[5] and Lind and Wallenburg [6] in the Netherlands, Uchida et al. in Japan [7], etc. Therefore, if a young Marfan woman with an aortic diameter less than 4 cm still wants to bear a child, after clear, repeated counselling and with full knowledge that she has a 50% risk of transmitting the disease, her wish should be respected provided she would be submitted to a close cardiovascular and obstetrical surveillance during pregnancy.

If such a patient has an aorta enlarged over 4 cm or rapidly evolving, she must certainly undergo elective replacement of the aortic root before pregnancy. The teratogenic and haemorrhagic risks of long-term anticoagulant therapy may in some cases be obviated by performing valve sparing procedures or using bioprostheses, in full knowledge that a reoperation will be necessary in the future.

The problem of Marfan patients presenting abruptly with an acute type A dissection during pregnancy is more ethically and technically challenging.

Indeed, while any acute type A dissection is a highly lethal accident that requires immediate surgical treatment to save the patient’s life, the problem becomes more worrisome and complex when two lives are at stake. And an essential ethical question is raised: ‘are those two lives equivalent?’

In most instances dissection occurs during the last weeks of pregnancy. In that case the only acceptable strategy is to perform caesarean delivery just prior to aortic surgery. This is the only way to give both mother and child the best chances to survive. This was the case in two patients in the present report. Indeed, both mothers and both children survived and had a satisfactory long-term outcome.

Conversely, electing natural vaginal delivery in presence of acute dissection, as in one case reported here, is certainly erroneous. The important haemodynamical stress entailed by natural delivery, even under epidural anaesthesia and with the aid of forceps, represents undoubtedly a major danger of aortic rupture, tamponnade or extension of the dissecting process. Such a choice could even be considered as malpractice should the mother’s condition suddenly deteriorate during delivery.

The most delicate situation is encountered when acute dissection occurs before the 26th week of pregnancy with a non-viable foetus, implying that any caesarean section would result into foetal death.

Probably, the best option is to undertake aortic surgery with the foetus in utero hoping that it would survive the procedure. In that case the surgical technique must take into account this highly constraining parameter and must certainly be altered as compared to the usual methods. In particular, the too frequent and useless resort to deep hypothermia associated with circulatory arrest (DHCA) must be absolutely avoided. A brief survey of the literature shows that using DHCA in pregnant patients almost always results in foetal demise or in survival with major neurologic disorders and eventual death of the child. Acute dissection can perfectly be cured at moderate hypothermia with continuous full flow perfusion, especially in Marfan patients in whom the main intimal tear is generally located in the ascending aorta. To prevent malperfusion, cannulation of the right axillary artery must absolutely be preferred to that of the femoral artery which, obviously, has resulted in foetus demise and mother’s death in one case of the present report. Even though it is not on fashion and does not quite correspond to the present ‘gold standard’ of dissection surgery, the ascending aorta may be cross-clamped and the aortic root and ascending aorta replaced under permanent full flow CPB associated with foetal monitoring. This is the only way to try getting both individuals alive and well.

Evidently, when facing the dreadful catastrophe of acute type A dissection in a young pregnant Marfan patient, we must recruit all our intellectual and technical forces and means to perform an operation resulting in a living mother and a normal baby. But, if for any technical, anatomical or pathological reason, this is not possible and a choice has to be made, all efforts must be done to preserve the mother’s life even at the costs of foetus survival. To date, at least, this has always been the attitude recommended by either the medical profession or moralists. This is particularly true when acute dissection occurs in Marfan female patients who already have a family with other children. Marfan’s syndrome is classified as an ‘orphan disease’. It becomes a double tragedy when it turns into an ‘orphan’s disease’.

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