Tetralogy of Fallot with anomalous pulmonary venous connections: a rare but clinically important association.
TL;DR: Tetralogy of Fallot with anomalous pulmonary venous connections is a rare association and careful preoperative assessment is required in those with totally anomalous connections.
Abstract: Anomalous pulmonary venous connections were found in seven (0.6%) of 1183 patients with tetralogy of Fallot. Three patients had totally anomalous connections (one supracardiac, one direct to coronary sinus, and one mixed supracardiac and infracardiac) and four patients had partially anomalous pulmonary venous connections. All patients presented with the clinical features of tetralogy of Fallot. Anomalous pulmonary venous drainage was suspected clinically in only one patient in whom there was a scimitar sign on the chest radiograph. The exact diagnosis was established by cross sectional echocardiography (one), preoperative or postoperative angiography (five), or at necropsy (one). Surgery was performed in six patients. Total correction without re-routing of the anomalously draining veins was successful in all those with partially anomalous connections, with no significant long term sequelae (follow up median 17 years). Of those with totally anomalous connections, the full diagnosis was made only at necropsy in one patient, successful one-stage correction was performed in one, and the other patient, who had partially obstructed mixed drainage, died shortly after one-stage correction. Histological examination of the lung biopsy specimen in this patient showed grade 2 pulmonary vascular disease. Tetralogy of Fallot with anomalous pulmonary venous connections is a rare association. Careful preoperative assessment is required in those with totally anomalous connections.
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TL;DR: In this paper, a 2D echocardiography with color flow imaging enabled complete and correct diagnosis of the sites of drainage and the presence or absence of pulmonary venous obstruction.
34 citations
01 Jul 1994
TL;DR: TAPVD needs to be excluded at autopsy as a causal factor in cases of sudden infant death even in the absence of antemortem symptoms and signs, and the diversity of pulmonary-systemic venous anastomoses necessitates careful in situ dissection above and below the diaphragm and consideration of postmortem angiography.
Abstract: Clinicopathological details of 52 cases of total anomalous pulmonary venous drainage (TAPVD) taken from pediatric autopsy files from hospitals in Adelaide (Australia) Oxford and Edinburgh (United Kingdom) between 1957 and 1990 are presented. The patients ranged in age from a stillborn girl to a 15-month-old boy, with 42 cases (81%) dying in the first 3 months of life. While many patients had signs of a congenital cardiovascular anomaly prior to death, including tachypnea, tachycardia, central cyanosis, cardiac failure, heart murmurs, and difficulty in feeding, it was noteworthy that eight patients (16%) presented as sudden and unexpected death in the absence of significant antemortem symptoms and signs. Anomalous pulmonary venous drainage was also unsuspected prior to death in a total of 26 cases (53%) of those where relevant history was available (49 cases). Twelve infants (23%) underwent surgical correction, none of whom survived more than several weeks. TAPVD was isolated in 30 cases (58%) and was associated with other cardiac or congenital anomalies in 22 patients (42%). Just under half of nonisolated cases comprised the asplenia-heterotaxy syndrome. The points of drainage of the anomalous pulmonary veins were to the infradiaphragmatic veins (n = 21, 40%), left innominate vein (n = 13, 25%), coronary sinus (n = 7, 13%), right superior vena cava (n = 4, 8%), inferior vena cava above the diaphragm (n = 2, 4%), right innominate vein (n = 2, 4%), mixed left innominate vein and coronary sinus (n = 1, 2%), azygos vein (n = 1, 2%), and mixed right superior vena cava and left hemiazygos vein (n = 1, 2%). Twenty-three of 47 cases (49%) that were specifically examined revealed obstruction of the pulmonary veins or pulmonary hypertensive vascular changes on histology. These results emphasize that TAPVD needs to be excluded at autopsy as a causal factor in cases of sudden infant death even in the absence of antemortem symptoms and signs. Clues at autopsy include abnormal mobility of the heart, visceral situs inversus, and polyasplenia. The diversity of pulmonary-systemic venous anastomoses necessitates careful in situ dissection above and below the diaphragm and consideration of postmortem angiography.
31 citations
TL;DR: It is demonstrated that more unusual associations do exist in not infrequent numbers, i.e., a TET is not just a Tet, and should be sought on preoperative evaluation.
Abstract: We present a large single-center series (>2200 cases) operated for Tetralogy of Fallot (TOF). We analyzed the incidence of associated unusual and uncommonly described cardiac lesions and their diagnostic and therapeutic implications in TOF patients. This retrospective study was conducted by reviewing records of patients operated for TOF at a large tertiary care pediatric cardiac centre. From 2002 to 2008, a total of 2235 cases of TOF were evaluated with echocardiography, cardiac catheterization, and/or cardiac computed tomography followed by cardiac surgery. Known and well-described associations were excluded from the study. Unusual associations were tabulated. Several unusual associations having an incidence >0.1% were detected. These included subaortic membrane (1%), pulmonary venous abnormalities (0.5%), small left ventricle (0.5%), interrupted inferior vena cava (0.5%), mitral valve abnormalities (0.4%), hemitruncus (0.4%), tricuspid valve abnormalities (0.4%), biventricular dysfunction (0.3%), retroaortic innominate vein (0.3%), bicuspid aortic valve (0.2%), and pericardial effusion (0.2%). This series describes unusual, not previously routinely reported cardiac lesions associated with TOF that may affect management and should be sought on preoperative evaluation. We demonstrate that more unusual associations do exist in not infrequent numbers, i.e., a TET is not just a TET.
24 citations
TL;DR: A 5-week-old infant is reported who died suddenly and unexpectedly who was found at autopsy to have infradiaphragmatic TAPVC into the portal vein, and the possibilities of sudden infant death syndrome (SIDS) and inflicted injury were discounted.
Abstract: Total anomalous pulmonary venous connection (TAPVC), where the pulmonary venous circulation drains into the systemic venous circulation rather than into the left atrium, may present a number of problems at autopsy. A 5-week-old infant is reported who died suddenly and unexpectedly who was found at autopsy to have infradiaphragmatic TAPVC into the portal vein. The only associated anomalies were a tri-lobed left lung, a patent ductus arteriosus, and drainage of the inferior vena cava into the both the right and left atria. This case demonstrates particular features that may lead to difficulties in establishing the diagnosis of TAPVC. Sudden death in the absence of symptoms in this age group raises the possibilities of sudden infant death syndrome (SIDS) and inflicted injury, both of which were discounted in this case. An autopsy approach is outlined to maximize chances of diagnosing this entity that includes meticulous inspection and dissection of cardiac vascular connections before evisceration, with photographic documentation of findings. Concurrent cardiovascular abnormalities, including valve atresias, septal defects, and left heart hypoplasia are likely in the presence of asplenia/polysplenia syndrome. Extracardiac anomalies may be present in the form of Holt-Oram, Ellis-van Creveld, and cat eye syndromes. Careful examination of the common draining vein for obstructive features is an important part of the postmortem assessment. The possibility of heritable cases requires referral of the family for genetic evaluation.
23 citations
Cites background from "Tetralogy of Fallot with anomalous ..."
...Ventricular septal defect may be associated with pulmonary valve hypoplasia or atresia, on occasion constituting complete tetralogy of Fallot (32)....
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...Forensic Science, Medicine, and Pathology V1–3 Table 1 An Autopsy Approach to Total Anomalous Pulmonary Venous Connection (TAPVC) Examination of the heart, lungs and associated vasculature in situ looking for: • Unusual mobility of the heart after opening of the pericardial sac • Pulmonary veins not draining to the left atrium • Hypertrophy and dilatation of the right atrium and ventricle • Left heart hypoplasia Consideration of postmortem angiography Identification of site of termination of the pulmonary draining vein: • Supracardiac • Cardiac • Infracardiac • Multiple levels Dissection of aortic branches, pulmonary trunk, and venous tributaries in situ Evaluation of draining vein for stenosis or obstruction Identification of other congenital defects including: • Extracardiac anomalies: asplenia, polysplenia, visceral situs inversus, symmetrical lungs, short main bronchi, other abnormalities including features of Holt-Oram, Ellis-van Creveld, and cat eye syndromes; • Cardiac anomalies: dextrocardia, right atrial isomerism, common arteriovenous canal, ventricular septal defect, double-outlet right ventricle, transposition, valve atresias, tetralogy of Fallot; Consider involving a pediatric cardiologist and a medical geneticist in the autopsy Extensive photographic documentation of vascular and nonvascular abnormalities Consideration of molecular studies Family investigation and follow-up...
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TL;DR: The presence of anomalous pulmonary drainage with significant right-sided cardiac cardiac hypertrophy in each patient strongly suggests a contributing role for the vascular malformation in the aetiology of sudden unexpected death.
20 citations
References
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TL;DR: In this article, the authors evaluated 20 patients at a mean of 9 years after tetralogy of fallot repair by radionuclide ventriculography, 24 hour Holter monitoring, and M-mode echocardiography.
175 citations
TL;DR: A previously unreported association of tetralogy of Fallot and total anomalous pulmonary venous drainage is described in two infants, who had systemic-pulmonary shunt surgery to increase the pulmonary blood flow and eventually died from tracheostomy complications.
28 citations
TL;DR: The masking effect of the pulmonary outflow stenosis on pulmonary venous obstruction is discussed together with the relevance to clinical diagnosis and surgical intervention as “palliative” surgery may be dangerous.
Abstract: The association of total anomalous pulmonary venous drainage and Tetralogy of Fallot is a rare occurrrence; only six cases have been reported and only in one of these was the pulmonary drainage by the infracardiac route. A further such case is reported in a girl twin, with cleft palate and umbilical hernia and a normal spleen, who died at the age of three weeks and the clinical and post mortem features are described. The masking effect of the pulmonary outflow stenosis on pulmonary venous obstruction is discussed together with the relevance to clinical diagnosis and surgical intervention as “palliative” surgery may be dangerous.
13 citations
TL;DR: A case of tetralogy of Fallot associated with total anomalous pulmonary venous return, with successful surgical correction, is presented.
Abstract: We present a case of tetralogy of Fallot associated with total anomalous pulmonary venous return, with successful surgical correction. This association presents problems as regards surgical indications and technique.
11 citations