scholarly journals De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

2015 ◽  
Vol 167 (12) ◽  
pp. 2966-2974 ◽  
Author(s):  
Ina E. Amarillo ◽  
Shawn O'Connor ◽  
Caroline K. Lee ◽  
Marcia Willing ◽  
Jennifer A. Wambach
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
De Novo ◽  
Patient Report ◽  
Absent Pulmonary Valve ◽  
Duplication Syndrome

Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation

2015 ◽  
Vol 26 (1) ◽  
pp. 164-167 ◽  
Author(s):  
Victoria C. Ziesenitz ◽  
Tsvetomir Loukanov ◽  
Christiane Gläser ◽  
Matthias Gorenflo
Keyword(s):  
Liver Transplantation ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Alagille Syndrome ◽  
Cardiac Repair ◽  
Absent Pulmonary Valve ◽  
Variable Expression

AbstractWe report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient’s sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.

Lecompte Procedure for Relief of Severe Airway Compression in Children With Congenital Heart Disease

2019 ◽  
Vol 10 (5) ◽  
pp. 558-564
Author(s):  
Christina L. Greene ◽  
Richard D. Mainwaring ◽  
Douglas Sidell ◽  
Michal Palmon ◽  
Frank L. Hanley
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Surgical Procedure ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Atresia ◽  
Absent Pulmonary Valve ◽  
Airway Compression ◽  
Absent Pulmonary Valve Syndrome

Purpose: Children with congenital heart disease may present with severe airway compression prior to any surgical procedure or may develop airway compression following their surgical procedure. This combination of congenital heart defect and airway compression poses a significant management challenge. The purpose of this study was to review our experience with the Lecompte procedure for relief of severe airway compression. Methods: This was a retrospective review of ten patients who underwent a Lecompte procedure for relief of severe airway compression over the past nine years (2010-2018). Three patients with absent pulmonary valve syndrome presented with severe symptoms prior to any surgical procedure. Seven patients presented with symptoms of airway compression following repair of their congenital heart defects (one with absent pulmonary valve syndrome, three patients had repair of pulmonary atresia with ventricular septal defect, and three patients had undergone aortic arch surgery). The median age at presentation was two years (range: one day to seven years). Results: The ten patients underwent a Lecompte procedure without any significant complications or operative mortality. The median interval between the surgical procedure and extubation was 9.5 days. No patients have required any further interventions for relief of airway obstruction. Conclusions: The Lecompte procedure is a surgical option for young children who present with severe airway compression. The patients in this series responded well to the Lecompte procedure as evidenced by clinical relief of airway compression.

Anomalous origin of the right pulmonary artery from the ascending aorta accompanied by absent pulmonary valve syndrome and right-sided aortic arch: a rare case in adult congenital heart disease

2014 ◽  
Vol 25 (4) ◽  
pp. 794-796 ◽  
Author(s):  
Zahra Khajali ◽  
Ali Mohammadzadeh ◽  
Marzieh Khayatzadeh
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Ascending Aorta ◽  
Absent Pulmonary Valve ◽  
Right Pulmonary Artery ◽  
The Right ◽  
Absent Pulmonary Valve Syndrome

AbstractWe present a rare congenital heart disease in a 20-year-old man with anomalous origin of the right pulmonary artery from the ascending aorta, accompanied by absent pulmonary valve syndrome, and a right-sided aortic arch suspected initially in transthoracic echocardiography and subsequently confirmed by cardiac catheterisation and computed tomography angiography.

Correction of Absent Pulmonary Valve Syndrome Using a Pericardial Valved Conduit

2002 ◽  
Vol 10 (3) ◽  
pp. 270-272
Author(s):  
Sukasom Attanawanich ◽  
Pongsak Khowsathit ◽  
Wichaya Withurawanit
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Pulmonary Regurgitation ◽  
Effective Alternative ◽  
Absent Pulmonary Valve ◽  
Aortic Homograft ◽  
Valved Conduit ◽  
Absent Pulmonary Valve Syndrome

Absent pulmonary valve syndrome in a 4-month-old infant was successfully corrected using a fresh autologous pericardial trileaflet valved conduit. He recovered from operation with only mild pulmonary regurgitation at 4 months postoperatively. This technique is an effective alternative for infants with congenital heart disease who need tissue valved conduits. It may be more suitable than the aortic homograft by reason of the shortage of small homografts and its lower costs.

Congenital Heart Disease in Adults

2017 ◽  
Author(s):  
Susan E. Haynes ◽  
Heather L. Bartlett ◽  
David J Skorton ◽  
Luke J Lamers
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Vena Cava ◽  
Congenital Diseases ◽  
Septal Defects ◽  
Atrial Septal Defects ◽  
Repaired Tetralogy Of Fallot

With advances in medical and surgical care, an increasing number of children with congenital diseases of the heart and vasculature now survive to adulthood. The proportion of adults who are affected by congenital heart disease is expected to continue to increase. Thus, it is important for clinicians to be knowledgeable about the care of these patients. This review examines acyanotic disorders (shunts and valvular lesions), vascular anomalies, cyanotic disorders, and women’s health issues. Figures show the anatomy of atrial septal defects, transcatheter closure of atrial septal defects, an anatomic cross section showing the atrioventricular septum, the anatomic positions of ventricular septal defects, a computed tomography scan of aortic coarctation, angiogram of a persistent left superior vena cava draining into the right atrium, systemic artery-to-pulmonary artery shunts, magnetic resonance image of a patient with repaired tetralogy of Fallot and long-standing pulmonary valve insufficiency, treatment of pulmonary valve regurgitation with a transcatheter pulmonary valve, computed tomographic images of a patient with atrial switch palliation of transposition of the great arteries and multiple baffle obstructions, stages in the repair of functional single ventricles, and echocardiograms of a patient with Ebstein anomaly. Tables list recommendations for pulmonary valve replacement in repaired tetralogy of Fallot, conditions in which pregnancy is high risk, and cardiac indications for fetal echocardiography. This review contains 12 highly rendered figures, 4 tables, and 62 references.

Pulmonary Valve Endocarditis in a Corrected Tetralogy of Fallot

2021 ◽  
Author(s):  
Valentina Scheggi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Surgical Intervention ◽  
Pulmonary Valve Replacement ◽  
Late Complications ◽  
Tract Infections

Tetralogy of Fallot is the most common cyanotic congenital heart disease. In the last decades, the number of adults with surgically corrected defects is increasing and we have to face with late complications. Echocardiography has a central role in the early diagnosis of these conditions. We report the case of a 31-year-old man, treated during childhood with surgical repair of the ventricular septal defect, ventricular right outflow plasty, and pulmonary valve commissurotomy. At the age of 30 years, the patient underwent a second surgical intervention (aortic root replacement and pulmonary bioprosthesis implantation). He was also affected by urethral stenosis and complained of relapsing urinary tract infections. At the admission to our department, he reported remittent fever ensued one month before. We performed a third surgical intervention (aortic and pulmonary valve replacement) after diagnosing Steptococcusagalactiae endocarditis involving the pulmonary prosthesis and the native aortic valve. In conclusion, echocardiographic follow-up and prevention of infection are the mainstays to improve the outcome of corrected congenital heart disease.

Recurrent pulmonary haemorrhage in an infant with tetralogy of Fallot and absent pulmonary valve: interventional treatment by coil occlusion of systemic-to-pulmonary collateral arteries

2012 ◽  
Vol 23 (3) ◽  
pp. 443-446 ◽  
Author(s):  
Matthias Kumpf ◽  
Jürgen Schäfer ◽  
Michael Hofbeck
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Pulmonary Haemorrhage ◽  
Pulmonary Congestion ◽  
Absent Pulmonary Valve ◽  
Bronchial Arteries ◽  
Collateral Arteries ◽  
Coil Occlusion

AbstractAlthough clinically silent in the majority of cases, enlarged bronchial arteries or systemic-to-pulmonary collateral arteries may complicate congenital heart disease in infants, causing significant left-to-right shunting with subsequent pulmonary congestion and respiratory compromise. So far, pulmonary haemorrhage, a well-known complication in older patients with cyanotic congenital heart disease, has not been described in infancy. We describe the case of a 6-month-old girl with tetralogy of Fallot and absent pulmonary valve who developed haemoptysis with severe respiratory distress following corrective surgery of the cardiac malformation. High-resolution computed tomography of the thorax followed by selective angiography revealed a systemic-to-pulmonary collateral artery originating from the left internal mammary artery. Pulmonary haemorrhage stopped immediately following coil occlusion of the collateral. A second episode of pulmonary haemorrhage occurred at the age of 9 months during mechanical ventilation for treatment of pneumonia. Repeat angiography revealed two more collateral vessels. Again coil occlusion resulted in prompt resolution of pulmonary haemorrhage. According to our experience, enlarged bronchial arteries or systemic-to-pulmonary collateral arteries should be considered in infants with cyanotic heart disease with unexplained pulmonary congestion or prolonged respiratory problems.

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