Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.

Ablación con radiofrecuencia de una taquicardia de aurícula izquierda en un niño de 3 meses sin foramen oval permeable / Radiofrequency ablation of left atrial tachycardia in a three-month-old infant without patent foramen ovale

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[Ectopia cordis and cardiac anomalies]. / Anomalías cardíacas en la ectopia cordis.

Ectopia cordis is a rare disease that occurs in 5.5 to 7.9 per million live births. Only 267 cases had been reported as of 2001, most (95%) associated with other cardiac anomalies. We studied the cardiac malformations associated in 6 patients with ectopia cordis. Depending on where the defect was located, the cases of ectopia were classified into four groups: cervical, thoracic, thoraco-abdominal, and abdominal. All 6 patients died before the third day of life, 4 during delivery. Three of the patients were included in the thoracic group, whereas the other 3 belonged to the thoraco-abdominal group. All the patients had associated ventricular septal defects, 3 double-outlet right ventricle (50%) and the rest (50%) tetralogy of Fallot-pulmonary atresia. Two patients with double-outlet right ventricle presented mitral-valve pathology, a parachute valve and an atresic mitral valve. None of these cardiac anomalies have been reported to date.

Anomalías cardíacas en la ectopia cordis / Ectopia cordis and cardiac anomalies

La ectopia cordis es una enfermedad rara, con una incidencia de 5,5-7,9 casos por millón de nacimientos. Hasta el año 2001 se han descrito 267 casos, la mayoría de ellos (95 por ciento) con otra cardiopatía asociada. Estudiamos las cardiopatías asociadas a 6 casos de ectopia cordis.En función de la zona afectada, los pacientes con ectopia cordis se clasifican en 4 grupos: cervical, torácica, toracoabdominal y abdominal. Los 6 pacientes descritos fallecieron antes de los 3 días de vida, cuatro de ellos en el momento del nacimiento. Tres pertenecían al grupo de ectopia torácica y otros tres al de toracoabdominal. Todos tenían comunicación interventricular, asociada a doble salida del ventrículo derecho en 3 (50 por ciento) y a tetralogía de Fallot-atresia pulmonar en otros 3 (50 por ciento). En 2 corazones con doble salida existía afección de la válvula mitral, estenosis por válvula en paracaídas y válvula mitral atrésica. Este tipo de anomalías no ha sido descrito anteriormente (AU)