Neonatal Marfan’s Syndrome in Its Maximum Expression: An Ambitious Course with Multidisciplinary Approach until Adolescence

Objectives: Neonatal Marfan’s syndrome (nMFS) is a rare variety of MFS with more serious clinical characteristics and worse prognosis. Due to severe cardiac involvement that relentlessly progresses and leads to CHF, survival of more than 2 years is rare. (Hennekam 2005; Heide et al 2005).

Methods: We present one of those rare cases of a 13-year-old patient with nMFS who required a complete replacement of the aorta with multidisciplinary involvement of pediatric and adult cardiac surgeons, vascular surgeons, and many other disciplines.

Result: The patient is of tall, the Klinefelter-like stature, and early developed multiple organ manifestations like aortic aneurysm, mitral valve (MV) prolapse with severe MV regurgitation, ocular manifestation, hernia, and scoliosis. He had undergone several surgical interventions including a David procedure and a mechanical aortic valve replacement at 6 and 9 years of age. Because of a plegia of his legs, he was already tied to a wheelchair and did not perform any sports. With 13 years, he experienced sudden onset of severe back pain that extended into his lower limbs. He was emergently brought to a nearby hospital, where a Stanford’s type-B aortic dissection was diagnosed via computed tomography angiography (CTA). He was transferred to our pediatric cardiology service for surgical treatment, where a frozen-elephant-trunk implantation was performed. Unfortunately, the repair of the original dissection did not prevent further aortic dissection and 2 weeks postoperatively a routine abdominal CT revealed a Stanford’s type-B dissection from the distal aorta to the left iliac artery, requiring a complete prosthetic replacement via Crawford’s procedure. Due to perioperative instability with several reanimations, the postoperative period was complicated by acute renal failure, impairment of wound healing and prolonged weaning from the respirator. Rehabilitation efforts only slowly improved his well-being. With combined interdisciplinary efforts, the patient could be stabilized within 2 months to be transferred to a neurorehabilitation center, where he reached the level of independence he experienced before this event after 4 months.

Conclusion: In conclusion, this case creates awareness of the need for short-interval interdisciplinary follow-up in patients with nMFS to detect possible complications early and emphasizes that a high-quality multidisciplinary approach improves survival and maintains the quality of life in the few individuals with nMFS that survive beyond the usual age limit of 24 months.