Rationale:
Complex pulmonary arteriovenous fistula (PAVF) is unusual, and even rarer in 2 members of a family. PAVF may not appear on chest X-ray or computed tomography imaging, especially in asymptomatic patients, and therapy is limited. Herein, PAVFs occurring in a mother and daughter are described, with the current standard methods of diagnosis and treatment of PAVF.
Patient concerns:
A 34-year-old woman and her 13-year-old daughter presented with light cyanosis of the nail beds but were otherwise asymptomatic, and physical examination was unremarkable. Their arterial oxygen saturation levels were low (80-85%).
Diagnoses:
Angiography led to a diagnosis of PAVF involving the bilateral lung in both women.
Interventions:
The combined use of coils with occluder (patent ductus arteriosus, or PDA) to obstruct the fistula.
Outcomes:
After interventional treatment, the patients' arterial oxygen saturation improved rapidly (90-95%). At 6-month follow-up, the patients' symptoms and oxygen saturation were normal.
Lessons:
PAVF is an autosomal dominant disease. Here, the characteristics of the 2 patients were very similar. Using detachable coils and then a PDA occluder is a highly efficient method for treating complex PAVFs.