potts shunt in children with familial primary pulmonary hypertension: a case report and brief literature review

Introduction: the primary concern about familial pulmonary arterial hypertension (fpah) isthe development of right heart failure, which ultimately leads to sudden death. despite recentadvances in pharmacological therapy, the mortality rate in children is still high, emphasizing theimportance of novel treatments. moreover, there is still no definitive treatment for children withsevere pulmonary hypertension. the consequences of right heart failure led to the proposal ofa surgical approach, the potts shunt, to decompress the right ventricle, providing shunting ofdeoxygenated blood to lower extremities and improving overall cardiac output. this surgicaltechnique creates an anastomosis between the left pulmonary artery and the descendingaorta, providing a palliative treatment to off-load the right ventricle.case presentation: we report an 11-year-old girl with familial pulmonary arterial hypertensionand right ventricular failure who benefited from a potts shunt with good mid-term results. thepatient was diagnosed at the age of 5 when she had a history of fainting and persistent syncope.the patient was under medical treatment therapy with bosentan, sildenafil, acetylsalicylicacid, and warfarin for six years. the results of molecular genetic testing, which was confirmedwith direct sequencing of the bone morphogenetic protein receptor type 2 (bmpr2) gene,revealed a heterozygous pathogenic mutation. since she was diagnosed with pulmonary arterialhypertension (pah), she lost her grandmother, an aunt, and father because of pah. her 14-year-oldsister also had mutated the bmpr2 gene without developing fpah.conclusions: the potts shunt provides an interventional step for palliation of patients withfamilial pulmonary hypertension and severe right heart failure refractory to medical treatment.it opens the door to the possibility of lung transplantation in the future. we did not see anycomplications within 6 years after placing the potts shunt.