Historia natural y evolución clínica de los pacientes con síndrome de la cimitarra «no corregido»: un estudio multicéntrico de la Sociedad Italiana de Cardiología Pediátrica / Natural history and clinical outcome of “Uncorrected” scimitar syndrome patients: a multicenter study of the Italian Society of Pediatric Cardiology

Introducción y objetivos. Analizar el estado clínico de los pacientes con síndrome de la cimitarra «no corregido» en un estudio multicéntrico italiano. Métodos. Se analizó la evolución natural del síndrome de la cimitarra en 44 individuos afectados de nueve centros de Italia. Resultados. La mediana de edad de diagnóstico fue 1,05 años (intervalo, 1 día-41 años). En total, 33 pacientes (75%) presentaban una forma aislada; en 11 (25%) había cardiopatías congénitas asociadas; 22 pacientes (50%) tenían síntomas en el momento del diagnóstico, que consistían en síntomas respiratorios (n = 20) e insuficiencia cardiaca congestiva (n = 6). Los pacientes con cardiopatías congénitas asociadas presentaban prevalencias de insuficiencia cardiaca congestiva (4 de 11 [36,4%] frente a 2 de 33 [6,1%]; p = 0,027) e hipertensión arterial pulmonar (7 de 11 [63,6%] frente a 2 de 33 [6,1%]; p = 0,027) superiores que los pacientes con formas aisladas del trastorno. A 10 pacientes (22,7%), se les practicó una corrección de los defectos cardiacos asociados, con lo que se dejó intacto el drenaje venoso pulmonar. La mediana de duración del seguimiento después del diagnóstico fue de 6,4 (0,2-27,5) años. Fallecieron 2 pacientes, ambos con defectos cardiacos asociados e hipertensión arterial pulmonar grave. De los 42 supervivientes, 39 (92,8%) estaban asintomáticos en la última visita de seguimiento; 3 pacientes continuaban refiriendo síntomas respiratorios. No se observaron diferencias entre las formas aisladas y las formas asociadas de la enfermedad. Conclusiones. En la mayoría de los pacientes, el síndrome de la cimitarra se manifestó en forma de una lesión aislada con evolución benigna. No obstante, cuando se asociaba a otros defectos cardiacos y a hipertensión arterial pulmonar, había aumento del riesgo de insuficiencia cardiaca congestiva y muerte. La corrección de los defectos cardiacos asociados (transformación de una forma «asociada» a una forma «aislada»), junto con la oclusión terapéutica de la irrigación arterial anómala del pulmón, proporcionó una evolución benigna comparable a la de las formas aisladas primarias (AU)

Introduction and objectives. To analyze the clinical status of patients with “uncorrected” scimitar syndrome in a multicenter Italian study. Methods. The natural history of scimitar syndrome was analyzed in 44 affected individuals (from 9 Italian centers). Results. The median age at diagnosis was 1.05 years (range, 1 day-41 years). Thirty-three patients (75%) had an isolated form; 11 patients (25%) had associated congenital heart diseases. Twenty-two patients (50%) were symptomatic at diagnosis, including respiratory symptoms (n=20) and congestive heart failure (n=6). Patients with associated congenital heart defects had a higher prevalence of congestive heart failure (4 of 11 [36.4%] vs 2 of 33 [6.1%]; P=.027), pulmonary arterial hypertension (7 of 11 [63.6%] vs 2 of 33 [6.1%]; P=.027) than patients with isolated forms. Ten patients (22.7%) underwent correction of associated cardiac defects, leaving the anomalous pulmonary venous drainage intact. The median length of follow-up after diagnosis was 6.4 years (range, 0.2-27.5 years). Two patients died, both with associated cardiac defects and severe pulmonary arterial hypertension. Of 42 survivors, 39 (92.8%) were asymptomatic at the last follow-up visit; 3 patients still complained respiratory symptoms. There was no difference between isolated and associated forms of the disease. Conclusions. In most patients, scimitar syndrome presented as an isolated lesion with a benign outcome. Nonetheless, when associated with other cardiac defects and pulmonary arterial hypertension, there was an increased risk of congestive heart failure and mortality. Correction of associated cardiac defects (transforming “associated” into “isolated” forms), together with the therapeutic occlusion of anomalous arterial supply to the lung, led to a benign outcome comparable to that in primarily isolated forms (AU)

Natural history and clinical outcome of "uncorrected" scimitar syndrome patients: a multicenter study of the italian society of pediatric cardiology.

INTRODUCTION AND OBJECTIVES: To analyze the clinical status of patients with "uncorrected" scimitar syndrome in a multicenter Italian study. METHODS: The natural history of scimitar syndrome was analyzed in 44 affected individuals (from 9 Italian centers). RESULTS: The median age at diagnosis was 1.05 years (range, 1 day-41 years). Thirty-three patients (75%) had an isolated form; 11 patients (25%) had associated congenital heart diseases. Twenty-two patients (50%) were symptomatic at diagnosis, including respiratory symptoms (n=20) and congestive heart failure (n=6). Patients with associated congenital heart defects had a higher prevalence of congestive heart failure (4 of 11 [36.4%] vs 2 of 33 [6.1%]; P=.027), pulmonary arterial hypertension (7 of 11 [63.6%] vs 2 of 33 [6.1%]; P=.027) than patients with isolated forms. Ten patients (22.7%) underwent correction of associated cardiac defects, leaving the anomalous pulmonary venous drainage intact. The median length of follow-up after diagnosis was 6.4 years (range, 0.2-27.5 years). Two patients died, both with associated cardiac defects and severe pulmonary arterial hypertension. Of 42 survivors, 39 (92.8%) were asymptomatic at the last follow-up visit; 3 patients still complained respiratory symptoms. There was no difference between isolated and associated forms of the disease. CONCLUSIONS: In most patients, scimitar syndrome presented as an isolated lesion with a benign outcome. Nonetheless, when associated with other cardiac defects and pulmonary arterial hypertension, there was an increased risk of congestive heart failure and mortality. Correction of associated cardiac defects (transforming "associated" into "isolated" forms), together with the therapeutic occlusion of anomalous arterial supply to the lung, led to a benign outcome comparable to that in primarily isolated forms.