Lung Underdevelopment: Case Reports and a Literature Review.

Lung underdevelopment is a rare congenital anomaly with variable clinical significance and presenting symptoms. It usually manifests during childhood. We present two cases of developmental lung anomaly subtypes and discuss clinical presentation and outcomes in such patient populations. LEARNING POINTS: Pulmonary underdevelopment is a challenging diagnosis and should be considered in patients with unilateral opacification on chest radiograph.Childhood developmental history is critical for diagnosis as delayed, or misdiagnoses are common. Definitive diagnosis can be made by computed tomography scan.Management is watchful waiting with close monitoring, with long term prognosis remaining unclear.

Holt-Oram Syndrome with Pulmonary Involvement-A Valuable Algorithm to Follow.

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect.

Anaesthesia Management for Neurosurgery in a Patient With Congenital Lung Agenesis.

Congenital lung agenesis is a rare congenital abnormality associated with an absence or under-development of either one or both lungs, and its presentation in adulthood is even rarer. We describe a 40-year-old female patient with a history of congenital agenesis of the right lung and a high-grade glioma in the frontal region of the brain presenting for craniotomy and excision of the tumor in an MRI suite. Lung protective strategies of ventilation were utilized intraoperatively. The remote location of the MRI suite made access to extra manpower support challenging. The patient was managed uneventfully and discharged stable to the high-dependency unit. Our case describes how congenital lung agenesis poses a unique set of challenges for anaesthetic management, particularly in neurosurgical patients, and provides guidance to a multidisciplinary team approach.

Bronchial Asthma With Scimitar Syndrome: A Case Report.

Scimitar syndrome is a rare congenital cardiopulmonary anomaly; it is also called venolobar syndrome, hypogenic lung syndrome, and Halasz syndrome. The syndrome is characterized by cardiac dextroposition, right lung and pulmonary artery hypoplasia as well as complete or partial anomalous pulmonary venous drainage of the right lung. We report a case of a 22-month-old full-term male child with a severe form of scimitar syndrome diagnosed at birth. The X-ray demonstrated dextrocardia and right lung hypoplasia, while the echocardiography clearly illustrated the scimitar vein. The patient had multiple ER visits and hospitalizations due to asthma exacerbation that was aggravated by recurrent respiratory tract infections; he responded well to asthma medications during his admissions yet compliance to his prophylactic asthma medications was poor at home.

Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis.

LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates. Herein, we report a case of late diagnosis and successful transcatheter treatment of aortic coarctation in a 58-year-old male patient with LACHT syndrome, medically resistant arterial hypertension, and left lung agenesis. Baseline CT angiography showed isthmic aortic coarctation and left lung agenesis, with compensatory right pulmonary artery and vein thickenings. The patient underwent balloon dilation and subsequent implantation of a covered NuMED 45 mm 8-ZIG CP stent with satisfactory outcomes. The pressure gradient decreased from 43 to 23 mmHg. The arterial pressures normalized during the follow-up with fewer medications. Genetic testing identified a heterozygous mutation (c.6583C > T) in the FBN2, supporting the diagnosis of variant Marfan syndrome.

Unilateral Lung Agenesis: A Case Series and Review of Literature.

Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.

Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature.

Trisomy 16 is the most common autosomal trisomy found in spontaneous abortions with mosaic versions seen in survivors. However, surviving children have multiple congenital defects and are at risk of growth and developmental delay. We report an additional case of mosaic trisomy 16 diagnosed by amniocentesis and confirmed after birth. Our patient is the first documented case of living mosaic trisomy 16 with the malformation constellation of lung agenesis, left pulmonary artery agenesis, congenital heart defects, and ipsilateral radial ray and limb abnormalities, expanding the phenotype of this rare condition. Additionally, this individual's unique combination of lung and cardiac defects caused morbidities that were challenging to manage and complicated family counseling as well.

Pregnancy management and outcome in a woman with congenital unilateral lung agenesis: A case report.

Background: Congenital unilateral lung agenesis is a rare condition in which there is complete absence of one lung, in addition to the associated bronchus and pulmonary vasculature. It can be an isolated finding or present in conjunction with cardiac, gastrointestinal, genitourinary and skeletal malformations. Due to the increasing physiological demands on the body during gestation and parturition, this condition poses significant risks in individuals with this condition. Case: A 26-year-old G1P0 with known right lung agenesis was managed with a multidisciplinary approach by obstetrics, maternal-foetal medicine, pulmonology and cardiology specialists. The patient subsequently had an uncomplicated pregnancy and vaginal delivery. Conclusion: Multidisciplinary care led to an optimal pregnancy outcome in a woman with congenital unilateral lung agenesis. Women with this condition with normal baseline function have a good prognosis in pregnancy.

Neonatal repair of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome: a case report.

BACKGROUND: Total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome is extremely rare. CASE PRESENTATION: We present a case of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome in a patient who was diagnosed based on transthoracic echocardiography and computed tomography. We observed complete absence of the lung, the bronchial tree, and vascular structures on the right side, with abnormal drainage of the left pulmonary veins into the innominate vein. The patient showed clear clinical evidence of pulmonary venous obstruction and underwent surgery 3 days after birth. The pulmonary venous chamber containing the vertical vein was anastomosed to the left atrium using 7-0 PDS running sutures via a median sternotomy. Echocardiography and computed tomography performed 1 year postoperatively revealed no pulmonary venous obstruction. CONCLUSION: We report a rare case of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome, which was successfully repaired 3 days after birth. A median sternotomy is a safe and effective approach for surgical repair of congenital heart disease with unilateral lung agenesis. Repair of the supra cardiac total anomalous pulmonary connection using the vertical vein is feasible in patients with a small pulmonary venous chamber.

LACHT syndrome (Mardini-Nyhan association) with tracheal stenosis in a Thai newborn.

LACHT syndrome, or Mardini-Nyhan association, is an ultra-rare disorder, diagnosed solely by the clinical characteristics of lung agenesis, complex cardiac defects, and thumb anomalies. Only 12 patients have been reported worldwide, and here, we report a new clinical diagnosis of LACHT syndrome. Our patient was a male full-term newborn with left lung agenesis, congenital heart defects including ventricular septal defect, right-sided aortic arch, with aberrant left subclavian artery and Kommerell diverticulum, as well as left preaxial polydactyly and hemivertebra. Our patient appears to be the second LACHT syndrome case to also suffer from tracheal stenosis, which has only been reported once before in conjunction with this syndrome. In light of this, tracheal stenosis may be a phenotype for LACHT syndrome.

Absent pericardium and lung hypoplasia in a child with severe mitral regurgitation.

An 8-year-old girl with severe mitral regurgitation presented with symptoms of heart failure. Clinical investigations did not raise suspicion of an absent left pericardium. Congenital defects of the pericardium are rare and frequently associated with other cardiac lesions. We describe a case of severe mitral regurgitation in a child in whom an absent left-sided pericardium with hypoplasia of left lung was found incidentally during surgery to repair the mitral valve. We believe such associations with other heart diseases is usually circumstantial but can influence the perioperative morbidity, length of hospital stay, and even alter the surgical management.

Aortic valve replacement and tricuspid valve annuloplasty via a left thoracotomy in an adult with left pulmonary agenesis.

We report a case of a 66-year-old man who was diagnosed with severe aortic regurgitation, moderate tricuspid regurgitation and chronic atrial fibrillation. Preoperative computed tomography showed left lung agenesis. We performed aortic valve replacement, tricuspid valve annuloplasty and right pulmonary vein isolation via a left thoracotomy. This approach provided an adequate field of view.

Adult presentation of asymptomatic right lung agenesis: a rare anatomical variation.

Pulmonary agenesis is a very rare congenital anomaly characterized by the absence of pulmonary parenchyma and its vasculature. The diagnosis is usually during childhood. Herein, we report a case of incidental discover right pulmonary agenesis in adulthood male. A 30-year-old male presented with pre-operative medical evaluation for varicocele. There was no complaining from respiratory symptoms. He underwent plain chest X-ray and post-contrast CT scanning was performed using 64 multi-detector CT scanner. Chest Plain X-ray revealed cardiac and mediastinal shift to right side with hyper-inflated left lung crosses to right side. Multi-detector computed tomography examination revealed total absence of right lung with compensatory hyperinflation and increase volume of left lung. Hyper-inflated left lung extended to right hemithorax. Mediastinal structures including heart and great vessels were displaced to middle and lower parts of right hemithorax. Descending aorta located to anterior to thoracic vertebrae. Right pulmonary artery was absent. Right main bronchus was rudimentary. No detected other organ anomalies. No detected bony thoracic cage abnormalities.

Aortopexy and thymectomy through lower partial sternotomy for the treatment of airway compression in a patient with right lung agenesis.

We managed a case of extrinsic airway compression by adjacent structures in a 1-month-old boy with right lung agenesis and dextro-rotated heart using anterior aortopexy and near total thymectomy.

Endobronchial stenting on VV-ECMO in a 6-month-old girl with right lung agenesis and severe stenosis of the left main bronchus.

INTRODUCTION: Lung agenesis is a rare disorder with a variable, but potentially very bad clinical course. It necessitates complex clinical management, especially in life-threatening situations. CASE REPORT: We describe a case of a 6-month-old girl with right lung agenesis who required venovenous extracorporeal membrane oxygenation (VV-ECMO) due to pneumonia complicated by exacerbated previously diagnosed left main bronchus stenosis. The stenosis was resolved by endobronchial intervention and X-ray-guided stent insertion, which enabled weaning from ECMO and was aimed at preventing such a life-threatening respiratory failure in the future. Unfortunately, even with the functional stent, the baby died 2 months post-procedure due to unresolvable bronchial spasms. DISCUSSION: Despite high endobronchial stenting-related mortality in children, in cases where no effective pharmacological or surgical alternatives exist, stenting may be safely performed during VV-ECMO support and be a viable option to overcome critical respiratory failure caused by bronchial stenosis.

Asociación LACHT con hipoplasia de la vía aérea superior. Caso clínico / LACHT association with hypoplasia of the upper airway. Clinical case

Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.

Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.

3-Dimensional computed tomography imaging of the ring-sling complex with non-operative survival case in a 10-year-old female.

We report a case of a 10-year-old female patient who survived ring-sling complex without surgery. The patient had congenital wheezing from the neonatal period and was treated after a tentative diagnosis of infantile asthma. The patient suffered from allergy and was hospitalized several times due to severe wheezing, and when she was 22 months old, she was diagnosed with ring-sling complex. We used a segmental 4 mm internal diameter of the trachea for 3-dimensional computed tomography (3D-CT). Bronchial asthma is considered an exacerbating factor in infantile period and frequently required treatment with bronchodilator. After the age of 10, the patient had recurrent breathing difficulties during physical activity and during night time, and this condition was assessed to be related to the pressure from the blood vessel on the ring. We repeated the 3D-CT evaluation later and discovered that the internal diameter of the trachea had grown to 5 mm. Eventually, patient's breathing difficulties disappeared after the treatment of bronchial asthma and restriction of physical activities. Our patient remained in stable condition without undergoing any surgical procedures even after she passed the age of 10.

Congenital Lung Agenesis: Incidence and Outcome in the North of England.

BACKGROUND: Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. METHODS: The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. RESULTS: Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. CONCLUSION: Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. Birth Defects Research 109:857-859, 2017. © 2017 Wiley Periodicals, Inc.