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

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