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JACC March 8, 2022

Volume 79, Issue 9, suppl A

Complex Clinical Cases

HIGH OUTPUT HEART FAILURE IN PARKES WEBER SYNDROME
Poster Contributions
For exact presentation time, refer to the online ACC.22 Program Planner at https://www.abstractsonline.com/pp8/#!/10461

Session Title: Complex Clinical Cases: FIT Flatboard Poster Selections -- Heart Failure and Cardiomyopathies
Abstract Category: FIT: Heart Failure and Cardiomyopathies

Authors: Kirtan Patel, Steven La Count, Wojciech Mazur, The Christ Hospital, Cincinnati, OH, USA
Background: Parkes Weber syndrome (PWS) is a rare congenital disease that results in the formation of multiple arteriovenous
malformations (AVMs) usually in one limb. The AVMs cause the bypass of capillary beds in the affected limb given the lower systemic
vascular resistance, which results in a physiologic increase in heart rate, stroke volume and total plasma volume. There is associated
hypertrophy of the bone and soft tissue of the affected limb. Here we present a case of high output heart failure (HF) that presented in
adulthood.
Case: A 36-year-old male with a history of PWS in addition to recently diagnosed IgA nephropathy presented with worsening renal function
and shortness of breath over the past 2 months. He developed worsening orthopnea and lower extremity edema. His TTE showed elevated
pulmonary artery pressures and dilation of the RA, RV and LA, with the RA bowing into the LA which was new compared to a TTE sixteen
months ago. Patient was admitted to the hospital and had a right heart catheterization which showed elevated pressures and a cardiac
output of 17 L/min.
Decision-making: Patient had an embolization of the AVMs and debulking 25 years ago. Vascular surgery recommended debulking given
the failed embolization and amputation of his affected right leg was not feasible due to absence of a safe and appropriate level for closure.
Patient diuresed fifty-eight pounds by ultrafiltration. Patient’s symptoms showed significant improvement and he was discharged, with the
plan to discuss his case further at institutions that specialize in AVM management and to start trametinib to treat the AVMs. If trametinib
fails, next step is amputation at Mayo Clinic or Boston Children’s Hospital.
Conclusion: Patients with PWS are predisposed to developing high output HF due to the AVMs. Management of these patients usually
starts in childhood and requires a multidisciplinary team. In the case of our patient, he was being seen by a multidisciplinary team but given
his unusual presentation, treatment options were limited. There is no cure for PWS, so controlling the symptoms, commonly including renal
failure and HF, is the current standard of care. Newer treatments include chemotherapy regimens to decrease AVM formation.