RESUMO
OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.
Assuntos
Coartação Aórtica , Anormalidades do Olho , Síndromes Neurocutâneas , Humanos , Lactente , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Síndromes Neurocutâneas/complicações , Anormalidades do Olho/complicações , Coartação Aórtica/complicações , Qualidade de Vida , Estudos Transversais , CefaleiaRESUMO
Coarctation of the aorta is a well-known congenital cardiovascular disorder that typically occurs within proximity to the ductus arteriosus. The ascending aorta, distal descending aorta, and abdominal aorta are segments which are prone to development of an atypical coarctation. The etiologies of atypical cases are usually associated with various types of vasculitis syndromes or underlying genetic disorders. In this report, we present a 24-year-old female patient with an ascending aortic coarctation which developed secondary to an atherosclerotic process.
Assuntos
Coartação Aórtica , Doenças Cardiovasculares , Permeabilidade do Canal Arterial , Arterite de Takayasu , Humanos , Feminino , Adulto Jovem , Adulto , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/cirurgia , Arterite de Takayasu/complicações , Arterite de Takayasu/diagnóstico por imagem , Aorta Abdominal , Aorta TorácicaRESUMO
This case report shows how to perform simultaneously an open surgical correction of an aortic root aneurysm and aortic stenosis by interposition of an aortic composite graft and the transdiaphragmatic extra-anatomical correction of an aortic coarctation.
Assuntos
Aneurisma da Aorta Torácica , Coartação Aórtica , Implante de Prótese Vascular , Humanos , Coartação Aórtica/complicações , Coartação Aórtica/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/complicações , Aorta/cirurgiaRESUMO
Percutaneous surgery is the treatment of choice of isolated aortic coarctation in adults However, when there are other heart problems related to aortic coarctation, its surgical management may vary. We report a 41-year-old male presenting with aortic coarctation associated with severe, symptomatic, bicuspid aortic valve lesions and significant left ventricular dysfunction. He underwent open heart surgery for the surgical resolution of these problems. One year after surgery the results are satisfactory with no evidence of postoperative complications and a significant improvement of patient symptoms and left ventricular function.
Assuntos
Coartação Aórtica , Doença da Válvula Aórtica Bicúspide , Adulto , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/cirurgia , Valva Aórtica/cirurgia , Humanos , Masculino , Complicações Pós-OperatóriasRESUMO
Percutaneous surgery is the treatment of choice of isolated aortic coarctation in adults However, when there are other heart problems related to aortic coarctation, its surgical management may vary. We report a 41-year-old male presenting with aortic coarctation associated with severe, symptomatic, bicuspid aortic valve lesions and significant left ventricular dysfunction. He underwent open heart surgery for the surgical resolution of these problems. One year after surgery the results are satisfactory with no evidence of postoperative complications and a significant improvement of patient symptoms and left ventricular function.
Assuntos
Humanos , Masculino , Adulto , Coartação Aórtica/cirurgia , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Complicações Pós-Operatórias , Doença da Válvula Aórtica BicúspideRESUMO
La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.
Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to diagnose inborn errors of metabolism could be missed.
Assuntos
Humanos , Masculino , Lactente , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico , Doença de Tay-Sachs/diagnóstico , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnósticoRESUMO
Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile , Ebru Candab, Ertürk Leventc , The infantile form has the poorest clinical prognosis. First symptoms of this form, such as muscle weakness and hypotonia, occur around form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to diagnose inborn errors of metabolism could be missed.
La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.
Assuntos
Coartação Aórtica , Doença de Tay-Sachs , Refluxo Vesicoureteral , Adulto , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico , Criança , Humanos , Lactente , Doença de Tay-Sachs/diagnóstico , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnósticoRESUMO
Background: Coarctation of the aorta (CoA) can either present alone as an isolated condition or in association with other aortic arch or cardiac anomalies. One percent of patients with CoA have concomitant an aberrant right subclavian artery (ARSA). Purpose: We report the case of a 35-year-old woman with uncontrolled hypertension who was found to have CoA and ARSA. Results: The patient was treated successfully using a hybrid procedure comprising ARSA ligation and subclavian to carotid transposition, followed by thoracic endovascular aortic repair. Conclusions: Patients with CoA should be carefully studied, considering the possible coexistence of other congenital aortic arch defects, such as ARSA. Hybrid repair is a safe and effective approach for this condition.
Assuntos
Coartação Aórtica , Implante de Prótese Vascular , Anormalidades Cardiovasculares , Procedimentos Endovasculares , Adulto , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Coartação Aórtica/complicações , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/cirurgia , Anormalidades Cardiovasculares/complicações , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/cirurgia , Feminino , Humanos , Artéria Subclávia/anormalidades , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/cirurgia , Resultado do TratamentoRESUMO
We report a case of advanced age at presentation of interrupted aortic arch with aortopulmonary window. Although the association between these two defects is well established, their overall prevalence is extremely low. This case presents us with an excellent opportunity to discuss decision making regarding aortic arch repair techniques according to age at which primary surgical correction is intended.