Treatment of branch pulmonary stenosis secondary to pathologic vascular calcification with serial balloon angioplasty
Presented By:
Jill Hsia, MDl; Andrew C. Glatz, MD; Katsuhide Maeda, MD; Hansel Otero, MD; David Weber, MD; Qiaoli Li, PhD; Michael A. Levine, MD; David J. Goldberg, MD
Children's Hospital of Philadelphia
hsiaj@chop.eduOverview:
Generalized arterial calcification of infancy (GACI) is characterized by ectopic mineralization. Patients have biallelic mutations in ENNP1 or ABCC6 that result in low levels of inorganic pyrophosphate (PPi), an inhibitor of mineralization. GACI has a wide spectrum of clinical manifestations due to arterial, soft tissue, and periarticular calcifications. Previous studies have noted that the specific vasculature affected varies in early versus late onset disease. Pulmonary arterial calcifications can be seen in both early and late onset disease. We present the case of a patient with a GACI-like syndrome with low levels of serum PPi and normal ENPP1 and ABCC6 genes.
The patient had calcifications in the branch pulmonary arteries (PA) prenatally, which was confirmed with echocardiography and CTA postnatally. Serum levels of PPi were low. Due to increasing branch PA stenosis by echocardiography and CTA, he underwent cardiac catheterization at 3 months of age with balloon angioplasty of multiple right and left lobar branch PAs. The patient was referred for a surveillance catheterization at 7 months of age and again underwent balloon angioplasty of multiple lobar branches. At his follow up visit at 14 months of age, the patient was doing well with no evidence of recurrent disease by echocardiography.
To the best of our knowledge, this is the first case described in the literature of a patient with branch pulmonary stenosis associated with disordered mineralization treated with serial balloon angioplasty. While this patient’s genetic testing was negative for ENNP1 and ABCC6 mutations, he had low inorganic pyrophosphate levels, suggesting an underlying mechanism similar to GACI. Given that the efficacy of medical management is uncertain, in cases where calcification is progressive and associated with RV hypertension, medical management may not be the optimal treatment modality. Cha et al. reported the case of an infant with GACI associated branch pulmonary stenosis who underwent surgical intervention with bilateral pulmonary arterioplasty at 13 months with no post-operative complications. However, the risk for recurrence is unclear, and repeated sternotomies is not an insignificant morbidity.
During this patient’s initial catheterization, the possibility of a surgical intervention was discussed. However, given the severity of multi-vessel lobar and segmental artery stenosis and preference to defer potential surgical intervention until the patient was larger, catheter-based intervention on the lobar PAs was pursued to decrease systemic RV pressures. This patient has done well with improvement in RV pressures by echocardiography at time of most recent follow up.
Patients with pulmonary artery tree stenosis related to ectopic mineralization may be candidates for catheter-based intervention to relieve branch and lobar PA obstruction. It is significantly less invasive than surgical intervention, and this patient has not had evidence of recurrence of disease to date. However, it is unclear if treatment success would differ in patients with typical GACI who have ENNP1 and ABCC6 mutations, compared to this patient who was only noted to have low PPi levels. Given the rarity of this disorder, more experience is still needed to fully define the role of catheter based intervention.
The patient had calcifications in the branch pulmonary arteries (PA) prenatally, which was confirmed with echocardiography and CTA postnatally. Serum levels of PPi were low. Due to increasing branch PA stenosis by echocardiography and CTA, he underwent cardiac catheterization at 3 months of age with balloon angioplasty of multiple right and left lobar branch PAs. The patient was referred for a surveillance catheterization at 7 months of age and again underwent balloon angioplasty of multiple lobar branches. At his follow up visit at 14 months of age, the patient was doing well with no evidence of recurrent disease by echocardiography.
To the best of our knowledge, this is the first case described in the literature of a patient with branch pulmonary stenosis associated with disordered mineralization treated with serial balloon angioplasty. While this patient’s genetic testing was negative for ENNP1 and ABCC6 mutations, he had low inorganic pyrophosphate levels, suggesting an underlying mechanism similar to GACI. Given that the efficacy of medical management is uncertain, in cases where calcification is progressive and associated with RV hypertension, medical management may not be the optimal treatment modality. Cha et al. reported the case of an infant with GACI associated branch pulmonary stenosis who underwent surgical intervention with bilateral pulmonary arterioplasty at 13 months with no post-operative complications. However, the risk for recurrence is unclear, and repeated sternotomies is not an insignificant morbidity.
During this patient’s initial catheterization, the possibility of a surgical intervention was discussed. However, given the severity of multi-vessel lobar and segmental artery stenosis and preference to defer potential surgical intervention until the patient was larger, catheter-based intervention on the lobar PAs was pursued to decrease systemic RV pressures. This patient has done well with improvement in RV pressures by echocardiography at time of most recent follow up.
Patients with pulmonary artery tree stenosis related to ectopic mineralization may be candidates for catheter-based intervention to relieve branch and lobar PA obstruction. It is significantly less invasive than surgical intervention, and this patient has not had evidence of recurrence of disease to date. However, it is unclear if treatment success would differ in patients with typical GACI who have ENNP1 and ABCC6 mutations, compared to this patient who was only noted to have low PPi levels. Given the rarity of this disorder, more experience is still needed to fully define the role of catheter based intervention.
