Background:
Holt-Oram syndrome is a rare disease that is typically diagnosed at birth after multiple extremity defects are found at birth. Typical cardiac finds are heart blocks, VSD, ASD, and sick sinus syndrome. This case is particularly interesting as the diagnosis was discovered after hemodynamic collapse after Type B aortic dissection.

Case:
35-year-old African American male with history of HIV on HAART therapy and infantile anal atresia sprectum creation who presented to the emergency department after a syncopal episode. On assessment, the patient was noted to have a widened pulse pressure. EKG was performed and was noted to show left anterior fascicular block. CT angiogram of the chest, abdomen, and pelvis which showed a thoracic aortic aneurysm with type B aortic dissection. CT surgery performed an emergent thoracic endovascular aortic repair. Transthoracic echocardiogram showed severe aortic regurgitation and left ventricular ejection fraction of 15-20%. The patient was noted to become cool and clammy post-operatively and was found to be in cardiogenic shock. The patient was started on dobutamine, intravenous furosemide, and sacubitril/valsartan. It was noticed the patient had a left triphalangeal thumb, missing right thumb, and decreased range of motion at the elbow. Forearm x-ray showed radioulnar synostosis in addition to the above apparent findings. The patient was thus diagnosed with Holt-Oram Syndrome after positive TBX5 gene mutation.

Decision‐making:
The patient ultimately, recovered from his cardiogenic shock. The patient was noted to be at high risk for ischemic workup. It was concluded that the patient needed to be evaluated. Ischemic work up was negative. It was concluded that the patient’s heart failure could possibly be multifactorial in etiology as the patient was noted to have HIV and the diagnosis of Holt-Oram syndrome is associated with an increased risk of cardiovascular complications.

Conclusion:
The patient was discharged on goal directed medical therapy and follow up with cardiothoracic surgery as he was noted to have abdominal aortic aneurysm that needed intervention. The patient was educated on his disease and follow up with genetic counseling.