[Rare case of incomplete Shone syndrome in adult man with marfanoid morphotype]. / Un cas rare de complexe de Shone incomplet chez un homme de 35 ans avec un morphotype marfanoïde et revue de la littérature.

Shone syndrome is a rare and complex congenital heart disease. It is characterized in its complete form, by a constellation of the four potentially obstructive lesions of the left heart side. Incomplete Shone's complex includes 2 or 3 of the characteristic lesions which, include a supravalvular mitral membrane, valvular mitral stenosis (MS) by a parachute mitral valve (PMV), subaortic stenosis and aortic coarctation (Coa). We describe here, the case of a 35-year-old man, hospitalized for chronic dyspnea and in whom, the diagnosis of incomplete Shone's complex is retained by echocardiographic analysis. Observed lesions include a parachute mitral valve responsible for mild regurgitation and moderate mitral stenosis, bicuspid aortic valve, and pseudo interruption of the aorta with dilatation of the ascending aorta and a patent ductus arteriosus. This case is the 2nd on 3942 patients in Drighil congenital heart disease registry.

Treatment-refractory heart failure as a manifestation of aortic arch atresia.

BACKGROUND: Distal segment atresia (isthmus) is an extremely rare anatomical variant of obstructive aortic arch anomalies. CASE REPORT: We present the case of a newborn who, at 48 hours of life, presented a clinical picture of heart failure. The initial echocardiogram showed a congenital interrupted aortic arch type A, patent ductus arteriosus, and ventricular septal defect. Prostaglandins were initially indicated. Subsequently, a second echocardiogram showed the absence of ductus arteriosus; the CT angiography study confirmed this finding and revealed blood flow to the descending aorta through small intercostal blood vessels. The possibility of atresia of the distal segment (isthmus) of the aortic arch was considered and confirmed at the time of surgery. CONCLUSIONS: Aortic atresia should be considered a diagnostic possibility in the presence of type A interrupted aortic arch since the hemodynamic behavior between them is similar. Surgical medical treatment should be individualized since this condition is frequently an emergency in the neonatal period. However, this is not always the case, as other cases have been reported in schoolchildren and adults.

INTRODUCCIÓN: La atresia de segmento distal (istmo) de arco aórtico es una variante anatómica extremadamente rara de las anomalías obstructivas del arco aórtico. CASO CLÍNICO: Se presenta el caso de un recién nacido que a las 48 horas de vida presentó un cuadro clínico de insuficiencia cardiaca. El estudio de ecocardiograma inicial mostró una anomalía congénita de interrupción de arco aórtico tipo A, conducto arterioso y comunicación interventricular. De inicio se indicaron prostaglandinas. Posteriormente, el segundo ecocardiograma mostró la ausencia del conducto arterioso; el estudio de angiotomografía confirmó este hallazgo y también reveló flujo sanguíneo hacia aorta descendente a través de pequeños vasos sanguíneos intercostales. Se consideró la posibilidad de atresia del segmento distal (istmo) de arco aórtico y se confirmó al momento del acto quirúrgico. CONCLUSIONES: La atresia aórtica debe ser considerada como posibilidad diagnóstica en presencia de interrupción de arco aórtico tipo A, ya que el comportamiento hemodinámico entre ellos es similar. El tratamiento médico quirúrgico debe individualizarse, ya que es frecuente que sea una urgencia en el periodo neonatal. Sin embargo, no sucede así siempre, ya que se han reportado casos en escolares y adultos.

Treatment-refractory heart failure as a manifestation of aortic arch atresia / Falla cardiaca refractaria a tratamiento como manifestación de atresia de arco aórtico

Abstract Background: Distal segment atresia (isthmus) is an extremely rare anatomical variant of obstructive aortic arch anomalies. Case report: We present the case of a newborn who, at 48 hours of life, presented a clinical picture of heart failure. The initial echocardiogram showed a congenital interrupted aortic arch type A, patent ductus arteriosus, and ventricular septal defect. Prostaglandins were initially indicated. Subsequently, a second echocardiogram showed the absence of ductus arteriosus; the CT angiography study confirmed this finding and revealed blood flow to the descending aorta through small intercostal blood vessels. The possibility of atresia of the distal segment (isthmus) of the aortic arch was considered and confirmed at the time of surgery. Conclusions: Aortic atresia should be considered a diagnostic possibility in the presence of type A interrupted aortic arch since the hemodynamic behavior between them is similar. Surgical medical treatment should be individualized since this condition is frequently an emergency in the neonatal period. However, this is not always the case, as other cases have been reported in schoolchildren and adults.

Resumen Introducción: La atresia de segmento distal (istmo) de arco aórtico es una variante anatómica extremadamente rara de las anomalías obstructivas del arco aórtico. Caso clínico: Se presenta el caso de un recién nacido que a las 48 horas de vida presentó un cuadro clínico de insuficiencia cardiaca. El estudio de ecocardiograma inicial mostró una anomalía congénita de interrupción de arco aórtico tipo A, conducto arterioso y comunicación interventricular. De inicio se indicaron prostaglandinas. Posteriormente, el segundo ecocardiograma mostró la ausencia del conducto arterioso; el estudio de angiotomografía confirmó este hallazgo y también reveló flujo sanguíneo hacia aorta descendente a través de pequeños vasos sanguíneos intercostales. Se consideró la posibilidad de atresia del segmento distal (istmo) de arco aórtico y se confirmó al momento del acto quirúrgico. Conclusiones: La atresia aórtica debe ser considerada como posibilidad diagnóstica en presencia de interrupción de arco aórtico tipo A, ya que el comportamiento hemodinámico entre ellos es similar. El tratamiento médico quirúrgico debe individualizarse, ya que es frecuente que sea una urgencia en el periodo neonatal. Sin embargo, no sucede así siempre, ya que se han reportado casos en escolares y adultos.

A new borne with very complex aortic anatomy: diagnosis and treatment challenge-case report.

BACKGROUND: Interrupted aortic arch (IAA) is a congenital malformation of the aortic arch which involves 3 out of 1 million live births. This congenital anomaly rarely occurs as an isolated lesion and is often associated with other intracardiac malformations, most commonly ventricular septal defect and patent ductus arteriosus (PDA). The diagnosis and surgical treatment of aortic interruption is usually challenging and may require multiple operations throughout the patient's life. CASE PRESENTATION: This case represents a neonate with interrupted aortic arch (type B) and a very long segment of descending aorta hypoplasia and complex anatomy. The patient escaped early diagnosis at birth and presented few days later by a picture that mimicked severe sepsis and shock. His aortic anatomy was very complex and he was treated with long extra-anatomical aortic interposition graft. CONCLUSION: Aortic interruption is a rare congenital anomaly and is considered an extreme form of aortic coarctation. It sometimes escapes early diagnosis due to the presence of patent ductus arteriosus and present later with shock and lactic acidosis. Sometimes the aortic anatomy is very complex and requires unusual surgical techniques for its repair.

Dual Arterial Access for Stenting of Aortic Coarctation in Patients with Near-Total Descending Aortic Interruption.

Endovascular stenting is a recognized treatment strategy for the treatment of coarctation of aorta (COA) in adults. The aortic coarctation is usually crossed retrogradely from the descending aorta via the femoral approach. We report three patients who had near-total descending aortic interruption and underwent successful stenting of severe COA using a combined radial/brachial and femoral approach due to difficulty in crossing the lesion retrogradely via a femoral approach. There were no procedural complications and no adverse events during 6 months of follow-up.

Interrupted Aortic Arch Associated with AP Window and Complex Cardiac Anomalies: Multi Detector Computed Tomography Findings.

Interrupted aortic arch is a rare congenital malformation of the aortic arch defined as a loss of luminal continuity between the ascending and descending portions of the aorta. In a simple interrupted aortic arch, only a ventricular septal defect and patent ductus arteriosus are observed. We present a rare complex form of type A interrupted aorta with an aortopulmonary window, an atrial septal defect, a ventricular septal defect, and a patent ductus arteriosus on multidetector computed tomography (MDCT) imaging.

A Case of Abdominal Aortic Interruption Presented with Secondary Hypertension

Aortic interruption is a very rare disease that can be classified into congenital and acquired aortic interruption. Congenital aortic interruption generally implies an interruption of the aortic arch and no case of congenital abdominal aortic interruption has been reported. Acquired aortic interruption, on the other hand, can be caused by atherosclerosis, thrombosis, saddle embolism, and arteritis such as Takayasu arteritis. We experienced a case of congenital abdominal aortic interruption accompanied by one well-developed collateral flow presented with secondary hypertension in a 28-year-old female patient.