237: CONGENITAL HEART DISEASE AND ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS

2018 ◽  
Vol 46 (1) ◽  
pp. 101-101
Author(s):  
Katharine Robb ◽  
Sook-kyung Kwon ◽  
Veerajalandhar Allareddy ◽  
Aditya Badheka
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease

1999 ◽  
Vol 84 (5) ◽  
pp. 618-620 ◽  
Author(s):  
John R Lane ◽  
Ernest Siwik ◽  
Tamar Preminger ◽  
Eileen Stork ◽  
Michael Spector
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

2013 ◽  
Vol 23 (5) ◽  
pp. 697-704 ◽  
Author(s):  
Daniela Laux ◽  
Valérie Malan ◽  
Fanny Bajolle ◽  
Younes Boudjemline ◽  
Jeanne Amiel ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Cluster ◽  
Reciprocal Translocation ◽  
Congenital Heart ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Left Heart ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

AbstractObjectiveThe objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2.MethodsWe retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease.ResultsTwo infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients.DiscussionGenetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

scholarly journals Contemporary use of Selexipag in pulmonary arterial hypertension associated with congenital heart disease: a case series

2020 ◽  
Author(s):  
Sarah Blissett ◽  
David Blusztein ◽  
Vaikom S Mahadevan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Side Effects ◽  
Arterial Hypertension ◽  
Exercise Capacity ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Case Series ◽  
Pulmonary Arterial

Abstract Background There are significant risks of parenteral prostacyclin use in patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD), which may limit their use. Selexipag is an oral, selective prostacyclin analogue that has been shown to reduce disease progression and improve exercise capacity in patients with PAH-CHD. Administering Selexipag in patients with PAH-CHD could potentially overcome some of the risks of parenteral therapy while improving clinical outcomes. Case summary We report five cases highlighting the clinical uses of Selexipag in patients with PAH-CHD. In the first two cases, Selexipag was initiated as part of a Treat-to-close strategy. In the third case, initiation of Selexipag improved symptoms and objective exercise capacity in a patient with Eisenmenger syndrome. In the fourth and fifth cases, rapid cross-titration protocols were used to transition from parenteral prostacyclins to Selexipag. In the fourth case, Selexipag was initiated in the context of significant side effects limiting parenteral prostacyclin use. In the fifth case, Selexipag was used to down-titrate from parenteral prostacyclins following closure of a sinus venosus atrial septal defect and redirection of anomalous pulmonary veins. Discussion Selexipag is a promising oral therapy for patients with at various stages of the spectrum of PAH-CHD to improve symptoms, exercise capacity and, in some cases, haemodynamics. Our cases also highlight practical aspects of Selexipag use including targeting the individualized maximally tolerated dose for each patient, managing side effects and managing dose interruptions.

The role of echocardiography in adult congenital heart disease

2021 ◽  
pp. 783-807
Author(s):  
Lindsay A. Smith ◽  
Mark K. Friedberg ◽  
Luc Mertens
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Adult Congenital Heart Disease ◽  
Pulmonary Veins ◽  
Diagnostic Technique ◽  
Strain Rate Imaging ◽  
Strain And Strain Rate ◽  
Adult Congenital ◽  
Dimensional Echocardiography

Echocardiography plays a key role in the diagnosis and management of adult patients with congenital heart disease and is considered the first-line diagnostic technique. Apart from traditional cross-sectional imaging, three-dimensional echocardiography and strain and strain rate imaging were introduced for specific indications and for better describing anatomical details and functional consequences of the different congenital lesions. For specific indications, additional imaging may be required including cardiac magnetic resonance imaging and computational tomography. Especially in adult congenital heart disease, echocardiographic imaging may be limited by poor acoustic windows and additional evaluation using other imaging modalities may be required. Additionally, MRI and CT imaging have proven to be extremely valuable for evaluation of right ventricular size and function and for describing extracardiac anatomy (pulmonary arteries, pulmonary veins, and aorta).

scholarly journals Prevalence of arrhythmias on the long term of adult patients with partial anomalous pulmonary venous connection treated surgically and conservatively: data from the SACHER registry and a French center

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Touray ◽  
J Bouchardy ◽  
M Ladouceur ◽  
M Schwerzmann ◽  
M Greutmann ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Late Complication ◽  
Pulmonary Veins ◽  
Pacemaker Implantation ◽  
Funding Source ◽  
Cardiac Symptoms ◽  
Systemic Vein ◽  
Anomalous Pulmonary Venous Connection

Abstract Introduction Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital heart disease, characterized by one or some but not all pulmonary veins anomalously connected to the right atrium or a systemic vein. PAPVC is either an isolated shunt lesion or associated with an atrial septal defect (ASD). This study compares the arrhythmic outcome of patients treated surgically with those clinically monitored. Method Clinical, surgical, imaging and invasive data of PAPVC patients were retrospectively reviewed from 7 centers from the Swiss Adult Congenital HEart disease Registry (SACHER) and one French center. Results A total of 168 patients with PAPVC were identified. Most (77%) patients underwent surgery, while the remaining (23%) ones were treated conservatively with clinical monitoring. The operated group (OG) had a significantly higher number of associated ASD (N=106, 82%) (p<0.001) and a higher number of anomalous pulmonary veins leading to a mean Qp:Qs at 2.5±1.2 before surgery (table). Moreover, the majority of patients in the OG had cardiac symptoms (N=78, 60%) and were diagnosed at a significantly younger age (table). Mean age at operation was 27±20 years. Age did not differ at latest follow-up (table). Holter recordings revealed a higher prevalence of arrhythmia in the OG (p=0.031), mainly of supraventricular tachyarrhythmias (table). The occurrence of ventricular non-sustained tachycardia and of bradyarrhythmia did not statistically differ between groups. Patients in the OG required more often medical treatment for arrhythmias: 12 (9%) needed electrophysiological study in the OG and none in the NOG (p=0.057). The amount of patients requiring a pacemaker implantation in the OG (11%) was significantly higher than that of NOG (0%) (p=0.039). Conclusion Patients after PAPVC repair present with a significant higher burden of arrhythmia than conservatively treated patients, either due to a larger shunt pre-operatively and/or as a late complication of the corrective surgery itself. Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Unrestricted grant from Actelion, Switzerland

Pulmonary Veins in Congenital Heart Disease in the Adult

Radiology ◽  
1961 ◽  
Vol 76 (6) ◽  
pp. 885-893 ◽  
Author(s):  
Robert S. Ormond ◽  
Andrew K. Poznanski ◽  
Arch W. Templeton
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Veins

scholarly journals P648 Right heart volume overload after surgical correction of atrial septal defect sinus venosus type with partial anomalous pulmonary veins drainage

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
I Ruiz-Zamora ◽  
L Alvarez-Roy ◽  
G Pinillos-Francia ◽  
A Gutierrez-Fernandez ◽  
M Gomez-Llorente ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Vein ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Venous Drainage ◽  
Sinus Venosus ◽  
The Right

Abstract 40 year-old male with history of congenital heart disease. Atrial septal defect (ASD) sinus venosus type associated with partial anomalous pulmonary venous drainage (PAPVD) was diagnosed during childhood and surgically repaired at the age of three. Since then the patient was asymptomatic and he was lost to follow up when reached adulthood. A transthorathic echocardiogram was performed during a hospitalization because of a complicated pneumonia. A severe dilatation of right chambers and main pulmonary artery was observed. The estimated Qp:Qs by this technique was 2.0 but the atrial septum seemed to be intact. Agitated saline was administered in this procedure and no passage of microbubbles was observed. A cardiac MRI was performed because of suspicion of anomalous pulmonary venous drainage. The findings observed in the echocardiogram were confirmed and an uncommon PAPVD was demonstrated by this technique: the superior left pulmonary vein drainaged into a dilated innominated vein. Also, a small pulmonary vein from the right upper lobe emptied into a "venous conduct" (yellow circle) located posterior to the superior cava vein (SCV) that later drainaged into the right atrium under the mouth of the SVC, posterior to the interatrial septum. Surgically correctioin of the PAPVD was performed. Discussion PAPVD is a congenital heart disease characterized by the drainage of one or several pulmonary veins –but not all of them- into the right atrium or systemic veins, which leads to left-to-right shunting. The estimated incidence of this disease ranges between 0.1 and 0.2% of the general population. The right superior pulmonary vein is the most frequently involved and is commonly associated to ASD sinus venosus type. Bilateral anomalous drainage, as occurred in this case, is exceptional. Furhermore, this case highlights the importance of long-term follow-up in patients with congenital heart disease due to the fact that, even when the disease is considered to be cured, long term complications could appear compromising the prognosis of the patient. Abstract P648 Figure. Unusual PAPVD

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