Holt Oram Syndrome in a Parturient
Abstract Number: SU-23
Abstract Type: Case Report/Case Series
Introduction: Holt Oram Syndrome is a rare autosomal dominant disorder characterized by cardiac and upper extremity anomalies. We present a case of severe Holt Oram Syndrome in a parturient.
Case presentation: A 30 year old G1P0 with diagnosis of Holt Oram Syndrome, incomplete AV canal defect status post repair, mechanical mitral valve replacement (on coumadin), tricuspid valvuloplasty, complete heart block, ventricular tachycardia status post pacemaker/AICD, scoliosis with moderate restrictive lung disease s/p lumbar fusion, and bilateral radial deformities was seen in high risk obstetric anesthesia consultation at 18 weeks EGA. She was followed by adult congenital heart disease and maternal fetal medicine clinic during her pregnancy, and although both providers recommended early termination, the patient refused. Systolic function declined during pregnancy to an ejection fraction (EF) of 35%. At 24 3/7-weeks EGA she presented to the ED in acute heart failure after 3 days of fatigue and 1 day of dyspnea (last office visit was 10 days prior and the patient did not notify her cardiologist of worsening symptoms). She was intubated with some difficulty in the ED and brachial arterial line, central venous catheter, and pulmonary artery catheter were placed. EF was estimated to be 10%. Her cardiac status was optimized over the next 48 hours in the CICU on dobutamine and furosemide infusions. Cesarean delivery was performed under GETA at 24 5/7-weeks EGA, with intraoperative TEE by cardiac anesthesia. A live born infant with features consistent with Holt Oram Syndrome and coumadin facies was delivered and transferred to the NICU. The patient was extubated on POD 3 and discharged to home on POD 9. She continues to follow with heart transplant service and was without further hospitalizations to date.
Discussion: Holt Oram Syndrome is a rare autosomal dominant disorder, characterized by cardiac anomalies, restrictive lung disease, potential for difficult airway, and upper extremity anomalies. Congenital cardiac anomalies vary from asymptomatic to severe malformations, with potential for progressive heart failure as pregnancy advances. Dysrhythmias and heart block are also features of the syndrome and patients may present with prior pacemaker/AICD placement. Skeletal abnormalities typically include deformities of the upper extremities including hypoplasia of the thumb and radius, which may prove for challenging arterial and venous cannulation. Difficult airway management has also been described in this patient population; our patient required multiple intubation attempts for which Glidescope intubation was ultimately successful. Lastly, ethical issues abound in the care of some parturients. Despite poor prognosis for our patient and her newborn with repeat counseling on benefits of termination for the mother, ultimately our patient was determined to continue her pregnancy and suffered serious morbidity due to this decision.