Background: Marfan syndrome is a systemic disorder with weakness of connective tissue, inherited in an autosomal dominant patterna and having variable penetrance. There are many people with moderately expressed symptoms; but their connective tissue has subnormal tensile strength.

Objective: To draw attention to people with moderate marfanoid features, who should be examined and given adequate recommendations concerning occupational choice and procreation.

Clinical Case: We report a case of a 68-year-old male with moderately expressed Marfan syndrome that was diagnosed at the age of over 30 years, when asymmetry of the inguinal area was noticed. Before that the patient had served in the army and repeatedly worked in construction, altogether about 5 years. These activities included lifting of heavy weights. At the age of 66 years the patient developed prolapse of the lower abdominal wall and femoral hernia with foot edema on the same left side. No therapeutic interventions apart from bearing a bandage have been effectuated so far.

Conclusion: Individuals with Marfan syndrome must avoid heavy weight lifting. Genetic counseling should be applied more broadly among individuals at risk.

Keywords

Marfan syndrome; Weightlifting; Genetic counseling

Marfan Syndrome (MS) is a systemic disorder with weakness of connective tissue, inherited in an autosomal dominant pattern, having variable penetrance [1,2]. There is abundant literature on MS, and the symptoms are well known. This case report illustrates late consequences of lifting heavy weights by an individual with belated diagnosis of moderately expressed MS. Individuals with MS are discouraged from heavy weightlifting, contact sports, high G-force activities and deep-sea diving [3]. However, most patients may be encouraged to remain active with aerobic activities performed in moderation. It appears that there is little real-world data to support the lifestyle recommendations [1]. Abnormal systemic collagen metabolism is thought to dispose to the development of hernias [4]. Hernias are often described in patients with MS [5-8]. However, no previous case reports on belated diagnosis of MS and abdominal wall prolapse resulting from heavy weight lifting have been found in the literature.

The family history of S. illustrated the psychological mechanism “like attracts like”, which can facilitate marriages between people with related hereditary conditions. While others might perceive an abnormality, a person somewhat similar to oneself might provoke interest and sympathy. This is potentially dangerous for the offspring. Both his parents were ethnic Russians. The mother had moderately expressed marfanoid appearance. The father was tall but otherwise inconspicuous. However, the father’s sister and daughter from his first marriage both had marfanoid body structure. S. had moderately expressed symptoms of MS: tall stature, thin skeleton with lax joints, moderate arachnodactyly, pes planus and slight kyphosis diagnosed in childhood. From adolescence on, S. heard comments about his “floppiness” and overcompensated by various physical activities: rowing, backpacker tourism, and fitness training including weightlifting. Starting at the age of 18 years, he repeatedly participated in construction and forestry works during holidays, amounting to 3 years plus 2 years of army service. These activities included lifting of heavy weights. Marfan syndrome was not diagnosed at yearly checkups (dispensarizations) neither at the Sechenov Medical Academy, where S. studied and was employed in the period 1973- 1990, nor at other institutions. Hereditary diseases have not been given sufficient attention in the above-named Academy [9]. The diagnosis was first suspected in his forth decade, by which time S. had developed visible asymmetry of the inguinal region. At the age of 66 years, along with atrophy of abdominal muscles, S. developed prolapse of his lower abdominal wall and femoral hernia with foot edema on the left side (Figure 1). He can sleep only keeping his lower limbs apart e.g. with a balloon ~40 cm in diameter between his thighs, otherwise circulation disturbances in the limbs become perceptible due to perineal descent with compression of blood vessels. Further, he has an old compressive fracture of the C6 vertebral body, confirmed by a radiograph and computed tomography, with recurrent pains in the cervical area. Emergence of the fracture coincided with heavy weight lifting during construction works at the age of 29 years. No further genetic information is available. No other diagnostic methods and therapeutic interventions apart from bearing an elastic bandage have been applied so far. The bandage is of limited effectiveness because it cannot alleviate the descensus perinei. As mentioned above, lower limbs are kept apart by a balloon at sleep time to prevent circulatory disturbances. Arnica ointment is used with visible effect against intertriginous inflammation, which is mild and transitory so far. An application to be recognized as disabled worker has not been granted.

Figure 1: Patient S. 68 years old. Prolaps of the abdominal wall is visible.

The vertebral injury should be commented. In 1985-1986 the construction job was helping to finish a stadium in a city north of St. Petersburg. Temporary workers were employed because of the short construction period, for which the regular staff did not suffice. They worked on average 16 hours a day without holidays, making concrete works and doing other tasks. The vertebral column sent feedback through the afferent channels: he should not carry heavy weights. The barrow became heavier, and the pain in the spine got worse. It started to hurt again 12 years later, in the cervical area, when S. practiced abroad as a pathologist and started to go on long-distance bicycle trips to counteract the sedentary lifestyle. At first, it was difficult to turn his head changing traffic lanes; the pain later became almost permanent, forcing him to get off the bicycle and walk. The conclusion, after radiography, was: old compressive fracture of the C6 vertebral body. S. had to avoid any load on the shoulder girdle… The barrow was overloaded by the team-leader (G.). S. had a visibly thin skeleton; the barrow was too heavy for him, but he had difficulties with saying “No”; and surrounding persons knew this; more details are in the book [10].

MS has variable penetrance [1,2]. This implies that there are many people with moderately expressed symptoms; but their connective tissue is weakened i.e. has subnormal tensile strength [11]. Furthermore, individuals with marfanoid phenotype may be carriers of disease-causing genes, needing genetic counseling. This is of particular importance when a person with marfanoid features finds a life partner with a similar stature. Not all of such individuals should be stigmatized by a formal diagnosis of MS, but they must be examined and given adequate recommendations concerning occupational choice, physical activities and procreation.

Cases are known when heritable disease was concealed from the partner and then acquired by the offspring. For example, 20-25% people of Ashkenazi descent carry a mutation for a genetic disorder. Among hereditary conditions, prevalence of the following is above-average: Tay-Sachs disease, Alport, Lynch, Wolfram syndromes, Glanzmann thrombasthenia, adrenal hyperplasia, thromboangiitis obliterans, torsion dystonia, osteoporosis, cystic fibrosis, mucolipidosis IV, pentosuria, diabetes, polycythemia vera, some varieties of solid cancer and leukemia, certain ophthalmic, psychiatric and other disorders. Some conditions are comparatively very frequent; for example, familial dysautonomia occurs almost exclusively in the above-named population; Bloom syndrome is ~600 times more prevalent than in the background. Approximately one in 10-15 Ashkenazi individuals are carriers of a mutation causing type 1 Gaucher disease, 1/30 - familial dysautonomia, 1/75 - A or B type of Niemann-Pick disease; 1/40 are estimated to be carriers for Canavan disease, 1/89 - Fanconi anemia [12]; more details and references are in the preceding article [13]. Many mutations are not specific but tend to be accumulated by the above-named population [14,15]. The problematic heredity may give rise to conscious or subconscious motives to look for partners from different ethnic backgrounds. Various tools can be applied: seduction and persuasion, intimidation and force, alcohol and drugs. Women should be aware of these tactics.

The mechanism can be illustrated by the following family cases, starting with the prequel of the case report presented above. A professor, ethnic Russian, having recognizable Marfan syndrome, married a young and beautiful colleague of mixed descent. Their daughter (Z.) and her son from the first marriage (S.) both had the same syndrome. When her son was 7 years old, Z., married a 13 years younger K., who wanted to live in Moscow. The following risk factors of the child maltreatment [16] were present: poor social support, presence of a younger child, family history of abuse - the perpetrator had been beaten by his father. The abuse was administered mainly by slapping in the face and head. The beating often occurred under the pretext of punishment, but sometimes without any pretext. Episodes of violence went along with intimidation by gestures. The physical abuse sometimes occurred before spectators: the mother, relatives or friends. Occasionally, the mother participated in beating, which is in agreement with reports that mothers abuse their children more often when their partners are not fathers of the victims [17]. In several cases, the child abuse was associated with sexual activities of the caregivers; K. got up from the marital bed and whipped the child without putting on his pants. Less frequently, he applied violence to his wife Z. When the boy was 12-13 years old, a visiting alcohol-consuming family friend climbed into the child’s bed; fortunately, the boy was able to defend himself. The scene was loud enough to be heard through the small apartment; K. laughed about it in the morning. Apart from irregular nourishment, an example of neglect was a deprivation of training clothes during early school years. The boy was sent to gymnastics lessons inappropriately dressed, so that his genitals were visible during exercises, in spite of written reprimands from the teacher and the child’s repeated begging. This was one of the immediate causes of delayed physical development: the teacher let the boy sitting on a bench during gymnastics lessons.

Z. migrated to Israel with K., who concealed a hereditary disorder from his wife; she noticed only polythelia, known to be associated with congenital malformations [18]. Apparently, he had male equivalent of Stein-Leventhal syndrome [19,20] possibly combined with other derangements: moderate gynecomastia and hypertrichosis, inclination to overweight. Male Stein-Leventhal Alias Polycystic Ovary Syndrome (PCOS) equivalent has been defined as an endocrine syndrome with a metabolic background in the presence of hyperandrogenism (early-onset androgenetic alopecia, acne or hypertrichosis), PCOSlike hormonal pattern, a trend toward higher body mass index and/ or a familiar history positive for PCOS [21]. His daughter inherited PCOS and died in her fifties. Besides, K. raped the wife of his spouse’s son when she had her leg plastered after a meniscus trauma; no contraception was used. His son born after that has severe allergy and hypermetropia +7.00 diopters. These facts were kept secret till approximately 2010, when the wife started making hints while external resemblance became more and more obvious. The perpetrator was in Israel at that time. Years later it has come out that the above-mentioned team-leader (G.) acted in complicity with K., whose acquaintance he made at the wedding party of S. G. has pectus excavatum and treated epilepsy, which he concealed from his wife (divorced after a nocturnal grand mal) and the power engineering institute, where he worked with sources of radiation (dismissed in the 1990s, later worked in construction). A vice versa case was also observed: a female postgraduate student of Baltic origin with marfanoid body structure married a Jewish department head; both their children inherited marfanoid appearance. Another example: a good-looking person concealed type 1 diabetes mellitus from his older ethnic Russian bride; their daughter developed the same condition plus obesity at the age of ~25 years, when her father had already been dead.

The strength of this report is that it is pointing at a widespread problem, meriting more attention of some medical professionals and educators. An obvious limitation is that this is a singular case, albeit probably a rather typical in many regards. The following conclusions are based both on own observations and the overview of literature.

Conclusions

In conclusion, individuals with MS must avoid heavy weight lifting. Genetic counseling should be more broadly applied in highrisk groups. More attention should be given to hereditary conditions at medical checkups and in the course of medical education. In the author’s opinion, reproductive coercion and contraceptive sabotage must be regarded as crime with infliction of bodily harm if an abortion or unwanted pregnancy, sexually transmitted or genetic disease has been inflicted by concealing from the partner of a hereditary or contagious condition. Some policies aimed at fertility elevation disregard reproductive rights of women. Popular TV series in Russia depict unexpected pregnancies both in and out of wedlock as natural and unavoidable. The risks associated with abortions and contraception are exaggerated or invented by some authors, including medical professionals [22].

Consent

The patient has provided written informed consent to publish the details of the case. All persons mentioned in this paper have been strictly anonymized, related information being appropriately masked.

Data Availability Statement

Data sharing is not applicable to this article as no new data were created or analyzed in this study.

Conflict of Interest Statement

No potential conflict of interest was reported by the authors.

Funding

There was no funding.

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Article Type: CASE REPORT

Citation: Jergin S (2025) Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report J Clin Case Stu 10(2): dx.doi.org/10.16966/2471- 4925.279

Copyright: ©2025 Jergin S. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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