Systemic Sclerosis Associated Pulmonary Arterial Hypertension with Venous Involvement-a Novel ABCC8 Pathogenic Variant

ABSTRACT

A 48-year-old Bissau-Guinean woman with systemic hypertension presented to the emergency department with a 5-month history of worsening fatigue, dyspnea, and peripheral edema. She worked as a cleaner, with no occupational exposures, and had no family history of pulmonary arterial hypertension (PAH). On admission, she was hypoxemic, with bibasilar crackles on auscultation and lower limb edema. Further examination revealed palmar telangiectasias.