Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex
Aim: Cardiac rhabdomyomas are the most frequently seen pediatric cardiac tumors and are predominantly associated with tuberous sclerosis complex. These tumors often shrink and disappear spontaneously. This study evaluated the clinical and echocardiographic data of patients followed up in our Pediatr...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2023-09-01
|
| Series: | Cirugía Cardiovascular |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1134009623000323 |
| _version_ | 1797677679597584384 |
|---|---|
| author | Hikmet Kıztanır Ayse Sulu Tugcem Akin Pelin Kosger Birsen Ucar |
| author_facet | Hikmet Kıztanır Ayse Sulu Tugcem Akin Pelin Kosger Birsen Ucar |
| author_sort | Hikmet Kıztanır |
| collection | DOAJ |
| description | Aim: Cardiac rhabdomyomas are the most frequently seen pediatric cardiac tumors and are predominantly associated with tuberous sclerosis complex. These tumors often shrink and disappear spontaneously. This study evaluated the clinical and echocardiographic data of patients followed up in our Pediatric Cardiology Clinic for cardiac rhabdomyoma. Methods: This study included patients with cardiac rhabdomyoma detected by echocardiography between 2008 and 2021. Data regarding the patients’ age at diagnosis, symptoms, physical examination findings, electrocardiography, 24-h Holter recordings, echocardiography, and follow-up data were obtained from the hospital records. Results: The age of the patients at the time of diagnosis ranged from 21-weeks gestational age to postnatal 10-months. A total of 49 tumors were detected in 10 patients. In all but 2 patients, the tumor was asymptomatic and the hemodynamic changes were not significant. One patient required surgery due to significant left ventricular outflow tract obstruction. Everolimus treatment was administered to 1 patient with right ventricular outflow tract obstruction. Five of the patients were diagnosed with tuberous sclerosis complex during the follow-ups. Except 1 patient who died post-surgery, the others demonstrated substantial regression of the tumors during the ongoing follow-ups. Conclusion: Although it is a rare tumor, cardiac rhabdomyoma may lead to life-threatening symptoms. They are typically asymptomatic and usually resolve spontaneously. Novel medical treatments, such as everolimus, are promising as an alternative to surgery in patients with hemodynamic deterioration. Resumen: Objetivo: Los rabdomiomas cardiacos son los tumores cardiacos pediátricos más frecuentes y se asocian predominantemente con el complejo de esclerosis tuberosa. Estos tumores a menudo se encogen y desaparecen espontáneamente. Este estudio evaluó los datos clínicos y ecocardiográficos de pacientes seguidos en nuestra Clínica de Cardiología Pediátrica por rabdomioma cardiaco. Métodos: El presente estudio incluyó pacientes con rabdomioma cardiaco detectado por ecocardiografía entre 2008 y 2021. Los datos sobre la edad de los pacientes al diagnóstico, síntomas, hallazgos del examen físico, electrocardiografía, registros Holter de 24 horas, ecocardiografía y datos de seguimiento se obtuvieron de los registros hospitalarios. Resultados: La edad de los pacientes al momento del diagnóstico osciló entre 21 semanas de edad gestacional y 10 meses posnatales. Se detectaron un total de 49 tumores en 10 pacientes. En todos menos en dos pacientes el tumor fue asintomático y los cambios hemodinámicos no fueron significativos. Un paciente requirió cirugía por obstrucción importante del tracto de salida del ventrículo izquierdo. Se administró tratamiento con everolimus a un paciente con obstrucción del tracto de salida del ventrículo derecho. Cinco de los pacientes fueron diagnosticados con complejo de esclerosis tuberosa durante los seguimientos. Excepto un paciente que murió después de la cirugía, los demás demostraron una regresión sustancial de los tumores durante los seguimientos en curso. Conclusión: Aunque es un tumor raro, el rabdomioma cardiaco puede causar síntomas potencialmente mortales. Por lo general, son asintomáticos y generalmente se resuelven espontáneamente. Nuevos tratamientos médicos como el everolimus, son prometedores como alternativa a la cirugía en pacientes con deterioro hemodinámico. |
| first_indexed | 2024-03-11T22:48:46Z |
| format | Article |
| id | doaj.art-783f391079ad4709b9737c1154803f28 |
| institution | Directory Open Access Journal |
| issn | 1134-0096 |
| language | Spanish |
| last_indexed | 2024-03-11T22:48:46Z |
| publishDate | 2023-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Cirugía Cardiovascular |
| spelling | doaj.art-783f391079ad4709b9737c1154803f282023-09-22T04:38:10ZspaElsevierCirugía Cardiovascular1134-00962023-09-01305294299Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complexHikmet Kıztanır0Ayse Sulu1Tugcem Akin2Pelin Kosger3Birsen Ucar4Department of Paediatric Cardiology, Recep Tayyip Erdogan University Training and Research Hospital, Rize, Turkey; Corresponding author.Department of Paediatric Cardiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, TurkeyDepartment of Paediatric Cardiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, TurkeyDepartment of Paediatric Cardiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, TurkeyDepartment of Paediatric Cardiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, TurkeyAim: Cardiac rhabdomyomas are the most frequently seen pediatric cardiac tumors and are predominantly associated with tuberous sclerosis complex. These tumors often shrink and disappear spontaneously. This study evaluated the clinical and echocardiographic data of patients followed up in our Pediatric Cardiology Clinic for cardiac rhabdomyoma. Methods: This study included patients with cardiac rhabdomyoma detected by echocardiography between 2008 and 2021. Data regarding the patients’ age at diagnosis, symptoms, physical examination findings, electrocardiography, 24-h Holter recordings, echocardiography, and follow-up data were obtained from the hospital records. Results: The age of the patients at the time of diagnosis ranged from 21-weeks gestational age to postnatal 10-months. A total of 49 tumors were detected in 10 patients. In all but 2 patients, the tumor was asymptomatic and the hemodynamic changes were not significant. One patient required surgery due to significant left ventricular outflow tract obstruction. Everolimus treatment was administered to 1 patient with right ventricular outflow tract obstruction. Five of the patients were diagnosed with tuberous sclerosis complex during the follow-ups. Except 1 patient who died post-surgery, the others demonstrated substantial regression of the tumors during the ongoing follow-ups. Conclusion: Although it is a rare tumor, cardiac rhabdomyoma may lead to life-threatening symptoms. They are typically asymptomatic and usually resolve spontaneously. Novel medical treatments, such as everolimus, are promising as an alternative to surgery in patients with hemodynamic deterioration. Resumen: Objetivo: Los rabdomiomas cardiacos son los tumores cardiacos pediátricos más frecuentes y se asocian predominantemente con el complejo de esclerosis tuberosa. Estos tumores a menudo se encogen y desaparecen espontáneamente. Este estudio evaluó los datos clínicos y ecocardiográficos de pacientes seguidos en nuestra Clínica de Cardiología Pediátrica por rabdomioma cardiaco. Métodos: El presente estudio incluyó pacientes con rabdomioma cardiaco detectado por ecocardiografía entre 2008 y 2021. Los datos sobre la edad de los pacientes al diagnóstico, síntomas, hallazgos del examen físico, electrocardiografía, registros Holter de 24 horas, ecocardiografía y datos de seguimiento se obtuvieron de los registros hospitalarios. Resultados: La edad de los pacientes al momento del diagnóstico osciló entre 21 semanas de edad gestacional y 10 meses posnatales. Se detectaron un total de 49 tumores en 10 pacientes. En todos menos en dos pacientes el tumor fue asintomático y los cambios hemodinámicos no fueron significativos. Un paciente requirió cirugía por obstrucción importante del tracto de salida del ventrículo izquierdo. Se administró tratamiento con everolimus a un paciente con obstrucción del tracto de salida del ventrículo derecho. Cinco de los pacientes fueron diagnosticados con complejo de esclerosis tuberosa durante los seguimientos. Excepto un paciente que murió después de la cirugía, los demás demostraron una regresión sustancial de los tumores durante los seguimientos en curso. Conclusión: Aunque es un tumor raro, el rabdomioma cardiaco puede causar síntomas potencialmente mortales. Por lo general, son asintomáticos y generalmente se resuelven espontáneamente. Nuevos tratamientos médicos como el everolimus, son prometedores como alternativa a la cirugía en pacientes con deterioro hemodinámico.http://www.sciencedirect.com/science/article/pii/S1134009623000323Rabdomioma cardiacoComplejo de esclerosis tuberosaEverolimus |
| spellingShingle | Hikmet Kıztanır Ayse Sulu Tugcem Akin Pelin Kosger Birsen Ucar Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex Cirugía Cardiovascular Rabdomioma cardiaco Complejo de esclerosis tuberosa Everolimus |
| title | Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| title_full | Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| title_fullStr | Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| title_full_unstemmed | Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| title_short | Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| title_sort | fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex |
| topic | Rabdomioma cardiaco Complejo de esclerosis tuberosa Everolimus |
| url | http://www.sciencedirect.com/science/article/pii/S1134009623000323 |
| work_keys_str_mv | AT hikmetkıztanır fetalandpostnataldiagnosisandmanagementofcardiacrhabdomyomasandassociationwithtuberoussclerosiscomplex AT aysesulu fetalandpostnataldiagnosisandmanagementofcardiacrhabdomyomasandassociationwithtuberoussclerosiscomplex AT tugcemakin fetalandpostnataldiagnosisandmanagementofcardiacrhabdomyomasandassociationwithtuberoussclerosiscomplex AT pelinkosger fetalandpostnataldiagnosisandmanagementofcardiacrhabdomyomasandassociationwithtuberoussclerosiscomplex AT birsenucar fetalandpostnataldiagnosisandmanagementofcardiacrhabdomyomasandassociationwithtuberoussclerosiscomplex |