Open Access Case Report

Pulmonary Hypertension from Cardiorenal Sequelae in an 18-Year-Old 46, XY Phenotypically Female Patient with Denys-Drash Syndrome: Case Report and Review of Literature

Mouhamed Nashawi MD1*, Abdullah Ghali BS2, Momin Hussain BS2, David Momtaz BS2, Aum Mhapankar BS2, Katie Struck BS2 and Robert Chilton DO FACC, FAHA, MACOI, FSCAI2

1Department of Internal Medicine, Baylor Scott & White All Saints Medical Center, Texas, USA

2Division of Medicine-Cardiology, UT Health San Antonio, San Antonio, Texas, USA

Corresponding Author

Received Date: June 09, 2021;  Published Date: June 23, 2021


Denys-Drash Syndrome (DDS) is a rare cause of end-stage renal disease (ESRD) stemming from genetic mutations in the Wilms’ tumor 1 (WT1) gene. Albeit uncommon, it and other congenital nephropathies (e.g., Frasier syndrome) may warrant a clinical workup of cardiovascular disease in symptomatic patients with cardiopulmonary deficits, as the latter is associated with renal dysfunction given the multifarious physiologic roles and nodes of action concerning the kidneys. These include not only serving as a site of neural and hormonal stimuli that affect systemic equilibrium, but the regulation of blood pressure and osmolality as well. The cardiorenal demise classically seen in later stages of chronic kidney disease (CKD) in relatively older adults may arise earlier in these patients. We report the case of an 18-year-old 46, XY phenotypic female with DDS who complained of increasingly nettlesome dyspnea. Initially, she presented with a low index of suspicion for diminished cardiopulmonary fitness. However, further clinical workup which included catheterization and cardiac imaging was significant for findings of pulmonary hypertension.

Keywords: Pulmonary hypertension, Heart failure, Cardiorenal, Denys-drash, Echocardiography, Wilms

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