603: Array analysis of left ventricular outflow tract anomalies confirms the genetically heterogeneous nature of this subset of congenital heart defects

2013 ◽  
Vol 208 (1) ◽  
pp. S257
Author(s):  
Stephani Klingeman Plati ◽  
Mariette Hoffer ◽  
Fenna Jansen ◽  
Monique Haak ◽  
Dick Oepkes ◽  
...  
2013 ◽  
Vol 154 (6) ◽  
pp. 219-224
Author(s):  
István Hartyánszky ◽  
András Kollár ◽  
Krisztina Kádár ◽  
László Ablonczy ◽  
Edit Novák ◽  
...  

Introduction: The surgical strategy to manage multilevel left ventricular outflow tract diseases is changing constantly, however, the Ross-procedure has remained a standard method for 45 years. Aim: The aim of the study was to analyze early and mid-term results of Ross-procedure in congenital heart defects (single surgeon’s results). Methods: From 2001 until 2011 a total of 63 patients (age, 28 days–21 years; mean: 10 years, weight 3.4–96 kg; mean, 8.8 kg) underwent Ross (n = 40), Ross–Konno (n = 17) or Ross–Konno-mitral (n = 6) procedures. Indication for Ross procedure was aortic regurgitation in 15 patients (associated with ventricular septum defect in 8 patients) and a predominant aortic stenosis in 25 patients. 17 patients with severe left ventricular outflow tract obstruction underwent Ross–Konno procedure. 6 patients with concomitant mitral valve disease (Shone syndrome, 3 patients; complete atrioventricular septal defect, 3 patients) were reconstructed by Ross–Konno-mitral valve procedure. Results: Among Ross patients there were one early (cerebral complication) and one late death (homograft endocarditis) with a mean follow-up time of 7.4±1.8 years. Because of an early autograft endocarditis a 3-year-old boy underwent homograft implantation and was treated successfully with Bentall-procedure 9 years later. One patient with autograft regurgitation is waiting for reoperation. Among Ross–Konno patients there was no early or late death, and none of the patients underwent reoperation. In Ross–Konno-mitral patients there was one early death (28-day-old boy) and during a mean follow-up time of 2.5±1 years, and no reintervention or reoperation was needed in 5 patients. Conclusions: The results indicate a good outcome of Ross-, Ross–Konno-, Ross–Konno-mitral procedures in patients with congenital heart defects when surgery is performed by a highly experienced heart surgeon. In newborns, infants and small children Ross- and Ross–Konno procedures are the only methods for managing left ventricular outflow tract diseases. Concomitant severe mitral disease adds a high level of technical complexity to the Ross–Konno/mitral procedure, but it should be balanced against alternative strategies (eg. single ventricle palliation or transplantation). Orv. Hetil., 2013, 154, 219–224.


2016 ◽  
Vol 101 (9) ◽  
pp. 808-813 ◽  
Author(s):  
Jarle Jortveit ◽  
Elisabeth Leirgul ◽  
Leif Eskedal ◽  
Gottfried Greve ◽  
Tatiana Fomina ◽  
...  

BackgroundVentricular septal defects (VSDs) are the most common congenital heart defects (CHDs). Previous studies indicate an increased risk of endocarditis, aortic regurgitation, left ventricular outflow tract obstructions, pulmonary hypertension, arrhythmias and sudden death in patients with isolated VSDs. The present nationwide cohort study reports mortality and cardiac complications requiring hospitalisation or intervention in children with isolated VSDs.Methods and resultsMedical information concerning all 943 871 live births in Norway in 1994–2009 was retrieved from the Medical Birth Registry of Norway, the Cardiovascular Disease in Norway project, the Oslo University Hospital's Clinical Registry of Congenital Heart Defects and the Norwegian Cause of Death Registry. Isolated VSDs were identified in 3495 children without known chromosomal aberrations or extracardiac malformations. Surgical or catheter-based treatment of VSD was performed in 181 (5.2%) cases. Twelve (0.3%) children with VSDs died before 2013. There was no operative mortality, and no excess mortality in children with isolated VSDs compared with children without VSDs (adjusted HR 0.8 (0.5 to 1.4), p=0.48). The following conditions were recorded as possible cardiac complications of the VSDs: endocarditis in 3 children (0.9‰), aortic regurgitation in 12 children (3.4‰), left ventricular outflow tract obstructions in no children (0.0‰), pulmonary hypertension in 1 child (0.3‰) and arrhythmias in 16 children (4.6‰).ConclusionsThe entire group of children with isolated VSDs had a favourable prognosis without excess mortality. Cardiac complications requiring hospitalisation or intervention, including endocarditis, aortic regurgitation, left ventricular outflow tract obstructions, pulmonary hypertension and arrhythmias, were infrequent during childhood.Trial registration numberNCT02026557.


2002 ◽  
Vol 90 (7) ◽  
pp. 806-809 ◽  
Author(s):  
Sarah Gelehrter ◽  
Gail Wright ◽  
Tamera Gless ◽  
Achiau Ludomirsky ◽  
Richard Ohye ◽  
...  

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Eric S. Ontiveros ◽  
Joshua A. Stern

Abstract Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs. The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity. This review is focused on the prevalence, inheritance pattern, and current genetic insights of canine SAS. The prevalence of this disease was reported at 4.7 % in a large veterinary referral hospital. The mode of inheritance for this disease has also been described in breeds with a high disease prevalence such as the Bullmastiff, Bouvier des Flandres, Dogue de Bordeaux, Golden Retriever, Newfoundland, and Rottweiler. Genetic investigations seeking to identify causative mutations for SAS are lacking with only a single published variant associated with SAS in Newfoundlands.


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