Achondroplasia, the most common form of human chondrodysplasias, is a rare disorder of impaired endochondral bone ossification, observed in 1/20,000 live births, as a result of over activation of fibroblast growth factor receptor 3 (FGFR3), a tyrosine kinase receptor that restrains over-proliferation of chondrocytes. The ensued mutation in the FGFR3 and its signaling results in various skeletal anomalies. The cause of skeletal dysplasia is frequently a de-novo mutation; however, the mode of inheritance is autosomal dominant if a parent carries a mutated FGFR3 gene. The homozygous form is fatal and has characteristics comparable to thanatropic dwarfs. Supervision of pregnancy in achondroplastic patients is a demanding task for obstetricians owing to cephalo-pelvic abnormalities and spinal curvature disorders. Furthermore, the airway anomalies create an impediment in the anesthetic management of such patients, including laryngomalacia, sternal protuberance, pulmonary malformations, cervical instability, inflexible temporomandibular joint and obstructive sleep apnea; therefore stringent preoperative assessment is obligatory. We reported an anecdotal case of a 28-year-old achondroplastic gravid woman who was referred to us from a tertiary care unit at 33 weeks of gestation. Frequent follow-up appointments with obstetrician, cardiologist, and anesthesiologist were performed due to the escalated risk of various complications. A comprehensive prenatal counseling, extensive assessments of potential risks were conducted by a multidisciplinary team to design a multiparametric management plan. The patient underwent general anesthesia following the failure of spinal anesthesia induction for an emergency caesarean section. We elucidate the risk-benefit analysis associated with the administration of regional and general anesthesia in achondroplastic parturients. The case offers an insight into devising a systemic management plan for such patients undergoing anesthesia induction. The dilemmas in anesthetic management are also emphasized.

Introduction: Connective tissue disease patients are at risk for thoracic aortic aneurysm (TAA) and its complications. We sought to clarify risk factors for TAA specific to women. Methods: Using Yale Aortic Institute database, we identified 266 female patients with diagnosis of Marfan’s, Ehlers-Danlos, or Loeys-Dietz Syndromes. We included imaging, clinical and surgical information collected using retrospective chart review. Results: Amongst women with CTD, the prevalence of TAA in our population was 25%. MFS patients constituted 23% of the study population but accounted for 70% of aneurysm patients. EDS patients comprised 74% of the study population and 24% aneurysm patients. LDS comprised a small percentage of both populations. Non-Caucasian ethnicities seemed to have much higher likelihood of developing an aneurysm. CTD patients with aortic aneurysms were more likely to have valvular heart disease (VHD: MVP, AI), HTN, DLP, and DM. Aneurysm rates were slightly higher in ever-pregnant patients, with highest rates in MFS. TAA patients had higher rates of all-cause mortality (15% vs 2%). CV/aortic-related complications and death occurred only in TAA patients. Aortic dissection occurred in 24%; 30/67 required aortic surgery, with 13/67 requiring multiple surgeries. MFS manifested higher rates of aortic dissection (40%), surgery (40%), and mortality (both all cause and CV/Ao). Conclusions: TAA is common amongst women with CTD, with Marfan’s patients being at highest risk for TAA and its complications (aortic dissection, need for surgery, and death). Risk factors for TAA were VHD, HTN, DLP, and DM. Pregnancy appears to be a risk factor for TAA in select CTD subgroups.

Introduction: Pregnancy may increase the risk of thoracic aortic aneurysm (TAA) and its complications in connective tissue disease (CTD) patients, but risk by CTD subtype is unclear. Methods: Using the Yale Aortic Institute database, we identified 244 female patients with Marfan’s, Ehlers Danlos, or Loeys Dietz Syndromes. We included imaging, clinical, surgical and pregnancy information using retrospective chart review. Results: Among MFS patients, 50% were ever-pregnant and had TAA; 20% were ever-pregnant and did NOT have TAA, while 25% were never-pregnant and had TAA. Ever-pregnant MFS had higher rates of Ao dissection (13% vs 7%), Ao surgery (45% vs 20%), and mortality both all cause (11% vs 0) and CV/Ao (5% vs 0).Among EDS patients, only 7% were ever-pregnant and had TAA; 66% were ever-pregnant and did NOT have TAA, while 1% were never-pregnant and had TAA. Overall low rates of Ao dissection (2%), Ao surgery (>1%), and mortality (2% all cause and 0.6% Ao/CV) were seen in ever-pregnant group.LDS population was small. TAA rate and need for Ao surgery were more common in the ever-pregnant group. No dissections or deaths in either group. Conclusion: Ever-pregnant patients with MFS had the highest risk of TAA, Ao dissection, Ao surgery and mortality. In contrast, ever-pregnant EDS patients had low rates of TAA and complications. Ever-pregnant LDS may be more likely to develop TAA and need for Ao surgery.

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