Open Thoracoabdominal Aortic Replacement in a Long-Term Survivor of Early-Onset Marfan Syndrome.

INTRODUCTION

Early-onset Marfan syndrome (eoMFS) is a rare and severe connective tissue disorder marked by cardiovascular complications in early life. It carries a poor prognosis, often causing death within the first 2 years of life due to heart failure. However, aggressive medical management and early surgical intervention can result in long-term survival, and these patients may subsequently develop aortic disease in early adulthood. Herein, we present a rare case in which we successfully treated an aortic dissection in a patient with eoMFS.

CASE PRESENTATION: A 19-year-old man with eoMFS developed a complicated Stanford type B aortic dissection with bilateral lower-limb malperfusion. He was diagnosed with eoMFS in early childhood. He underwent mitral and tricuspid valve repair at 18 months of age, followed by 2 additional mitral valve repairs at ages 3 and 7 for recurrent regurgitation, which enabled stable management of heart failure. In addition, aortic root replacement for annuloaortic ectasia was performed at age 11. After the diagnosis of complicated aortic dissection at age 19, thoracic endovascular aortic repair was performed to restore distal perfusion. Close follow-up revealed rapid aneurysmal dilation, and definitive open thoracoabdominal aortic replacement (TAAR) was planned. Surgical challenges included prior thoracic surgeries, difficulty in surgical exposure of the distal arch, and the inability to place a cerebrospinal fluid drain due to severe scoliosis. A straight incision with a rib-cross thoracotomy approach was used for optimal access. The aorta was reconstructed under deep hypothermia with selective visceral perfusion. Postoperatively, the patient required prolonged respiratory support due to chest deformity and pneumonia, but was eventually discharged without cerebral infarction or spinal cord ischemia.

CONCLUSIONS

eoMFS is an extremely rare disease with a high mortality rate; however, survival beyond infancy may be achievable with appropriate valve interventions. These patients may develop aortic disease in early adulthood, and critical technical considerations are required for open TAAR, taking into account the altered anatomy and prior interventions.