Primary Diagnosis of Marfan Syndrome in Pregnant 16 Years Old Girl: a Clinical Case

Background. Marfan syndrome is autosomal dominant hereditary disease of connective tissue with involvement of cardiovascular and musculoskeletal systems and eyes. Pregnancy in patients with Marfan syndrome differs with high risk of complications in mother and fetus, therefore it merits special attention from clinicians. Clinical Case Description. Patient M., 16 years old applied to the maternity obstetric service at gestational age 19/20 weeks. From anamnesis: aortic dilatation at sinuses of Valsalva, subaortic stenosis, mitral valve prolapse stage II, mitral valve insufficiency stage II, tricuspid valve prolapse stage I. Patient height was 179 cm and weight was 60 kg. There is data in medical records on diagnosed lens subluxation, scoliosis, funnel chest, flat feet, dental crowding in different years. Considering all the mentioned symptoms we have thought of Marfan syndrome diagnosis. We have performed therapy for enhancement of uteroplacental blood flow (intrauterine growth restriction was revealed). The vaginal pessary has been implanted at 28th week of gestation dueto cervical insufficiency. The patient received beta1-blocker. Vaginal delivery at 37 weeks 3 days. The girl was born, body weightwas 2230 g and height was 43 cm, 7/8 on APGAR scale. Conclusion. The patient was followed up by a cardiologist, orthopaedist, ophthalmologist and dentist with different symptom complexes from an early age. Though it was possible to determine correct diagnosis only at the age of 16 years during the examination due to unintended pregnancy. All clinicians have to remember that combination of cardiovascularsystem damages, lens subluxation and orthopaedic problems in tall and thin patients can be indicative of Marfan syndrome.