Acyanotic Truncus Arteriosus Type 4 in a Sudden Infant Death: A Case Report

A congenital cyanotic heart defect such as Truncus Arteriosus (TA) is rare and is represented by a single arterial trunk that develops from the heart and gives rise to the pulmonary trunk in several manners. TA comprises 0.7% of all complex congenital heart malformations caused by numerous aetiologies, with the majority being genetic in origin. This malformation can be recognised in the prenatal period so that further medical intervention can be advocated. There are four types of the defect based on the Collett-Edwards classification. Type 4 is a rare form in which the pulmonary arteries are non-existent. Therefore, the lungs are supplied by major aortopulmonary collateral arteries. It may also describe this anatomical picture as pulmonary atresia with VSD. We report here a unique case of truncus arteriosus type 4 in an apparently well-thriving and acyanotic 6-month-old male infant. The deceased was presented with a brief history of inconsolable cry shortly before his demise and the underlying cardiac abnormalities were discovered at autopsy. A meticulous post-mortem examination elucidates a better diagnosis approach. Genetic counselling can be offered to parents in recurrent cases, such as cases of consanguinity.

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Accuracy of Fetal Echocardiography in the Differential Diagnosis between Truncus Arteriosus and Pulmonary Atresia with Ventricular Septal Defect

Fetal Diagnosis and Therapy ◽

10.1159/000433430 ◽

2015 ◽

Vol 39 (2) ◽

pp. 90-99 ◽

Cited By ~ 14

Author(s):

Olga Gómez ◽

Iris Soveral ◽

Mar Bennasar ◽

Fatima Crispi ◽

Narcis Masoller ◽

...

Keyword(s):

Ventricular Septal Defect ◽

Septal Defect ◽

Fetal Echocardiography ◽

Ductus Arteriosus ◽

Pulmonary Atresia ◽

Image Correlation ◽

Truncus Arteriosus ◽

Chromosomal Anomalies ◽

Collateral Arteries ◽

Arterial Trunk

Objectives: To report on the accuracy of fetal echocardiography in the distinction between truncus arteriosus communis (CAT) and pulmonary atresia with ventricular septal defect (PA-VSD) and to describe the association with extracardiac and chromosomal anomalies. Methods: This was a retrospective study on 31 fetuses with a single arterial trunk overriding a VSD with a nonidentifiable right ventricle outflow tract with anterograde flow. Data on the type of cardiac defect, gestational age, characteristics of the arterial trunk valve, presence of additional vascular, chromosomal and extracardiac abnormalities and postnatal outcome were obtained. Misdiagnosed cases were reevaluated by four-dimensional spatiotemporal image correlation (4D-STIC) echocardiography. Results: The overall diagnostic accuracy was 81% and increased to 93.5% with 4D-STIC. Chromosomal and extracardiac anomalies were detected in 40 and 27%, respectively. In the PA-VSD group, patent ductus arteriosus and major aortopulmonary collateral arteries (MAPCAs) were present in 70 and 50% of the cases, respectively, coexisting in 1 of 5 cases. MAPCAs were significantly associated with a right aortic arch and with a 22q11 microdeletion in 50% of cases. Conclusions: A prenatal distinction between CAT and PA-VSD can currently be achieved in most cases. MAPCAs should be actively searched for when PA-VSD is suspected, as they are associated with a higher risk of 22q11 microdeletion and potentially complicate postnatal treatment.

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Selected Hormone Levels in Victims of the Sudden Infant Death Syndrome

PEDIATRICS ◽

10.1542/peds.65.6.1134 ◽

1980 ◽

Vol 65 (6) ◽

pp. 1134-1136

Author(s):

Richard L. Naeye ◽

Russell Fisher ◽

H. Robert Rubin ◽

Laurence M. Demers

Keyword(s):

Sudden Infant Death Syndrome ◽

Normal Level ◽

Infant Death ◽

Experimental Studies ◽

Pulmonary Arteries ◽

Sudden Infant Death ◽

Blood Levels ◽

Sudden Infant ◽

Hormone Levels ◽

Final Stress

Hormone levels were measured in victims of the sudden infant death syndrome (SIDS) to look for clues to the cause of death. SIDS victims who had petechiae on their intrathoracic organs had higher blood levels of cortisol than victims without such petechiae (25 vs 9 µg/100 ml, P < .005). This raises the possibility that SIDS victims who had petechiae had a longer period of predeath stress than did victims without petechiae since experimental studies have shown that the circulation must continue for a time after stress begins to produce such petechiae. The low normal level of cortisol (9 µg/ 100 ml) in SIDS victims who did not have petechiae raises the possibility that their circulation stopped rather promptly after the final stress began. Hypoxemia may have been the mechanism of death in many of the SIDS victims with petechiae. These victims had 20% more muscle in their pulmonary arteries than did victims without petechiae (P < .05). This muscle increase is a presumed marker for chronic hypoventilation which leads to hypoxemia.

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Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death

Pediatric and Developmental Pathology ◽

10.1177/1093526618765376 ◽

2018 ◽

Vol 22 (1) ◽

pp. 65-69 ◽

Cited By ~ 2

Author(s):

Amish Chinoy ◽

Indraneel Banerjee ◽

Sarah E Flanagan ◽

Sian Ellard ◽

Bing Han ◽

...

Keyword(s):

Infant Death ◽

Severe Hypoglycemia ◽

Male Infant ◽

Sudden Infant Death ◽

Focal Lesion ◽

Sudden Infant ◽

Congenital Hyperinsulinism ◽

Β Cells ◽

Cell Hyperplasia ◽

Risk Of Death

Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycemia in infancy due to unregulated insulin secretion from pancreatic β-cells. Prompt early diagnosis is important, as insulin reduces glucose supply to the brain, resulting in significant brain injury and risk of death. Histologically, CHI has focal and diffuse forms; in focal CHI, an inappropriate level of insulin is secreted from localized β-cell hyperplasia. We report a 4-month-old male infant, who presented with sudden illness and collapse without a recognized cause and died. Postmortem examination revealed pancreatic histopathology compatible with focal CHI. Immunofluoresence staining showed limited expression of p57kip2 β-cells reinforcing the diagnosis. Mutation testing for genes associated with CHI from DNA from the focal lesion was negative. This case highlights the recognition of focal CHI as a possible cause for sudden infant death. In children dying suddenly and unexpectedly, postmortem pancreatic sections should be carefully examined for focal CHI.

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Total cavopulmonary connection for functionally single ventricle with pulmonary atresia and abnormal arborization of pulmonary arteries - exclusion of overwhelmed area by collateral arteries from Fontan circulation

Interactive Cardiovascular and Thoracic Surgery ◽

10.1510/icvts.2007.174367 ◽

2008 ◽

Vol 7 (6) ◽

pp. 1180-1182 ◽

Cited By ~ 2

Author(s):

M. Nagashima ◽

N. Hibino ◽

E. Yamamoto ◽

T. Higaki

Keyword(s):

Single Ventricle ◽

Pulmonary Arteries ◽

Pulmonary Atresia ◽

Fontan Circulation ◽

Total Cavopulmonary Connection ◽

Collateral Arteries ◽

Cavopulmonary Connection

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Arterial supply to the lungs in tetralogy of Fallot with pulmonary atresia or critical pulmonary stenosis

Cardiology in the Young ◽

10.1017/s1047951100000603 ◽

1992 ◽

Vol 2 (1) ◽

pp. 65-72 ◽

Cited By ~ 8

Author(s):

Siew Yen Ho ◽

Gualtiero Catani ◽

Jeong-Wook Seo

Keyword(s):

Tetralogy Of Fallot ◽

Pulmonary Stenosis ◽

Pulmonary Arteries ◽

Pulmonary Atresia ◽

Arterial Supply ◽

Collateral Arteries ◽

Pulmonary Parenchyma ◽

Different Origins ◽

Different Sources ◽

Critical Pulmonary Stenosis

SummaryThe arterial supply to the lungs in cases with tetralogy of Fallot with pulmonary atresia or critical pulmonary stenosis is mostly via the arterial duct or else by collateral arteries arising directly or indirectly from the aorta. Nine anatomical specimens with collateral arteries were studied by blunt dissection to determine the arterial supply to each pulmonary segment. The precise supply varied from case to case but, overall, nearly two-thirds of the pulmonary segments were connected to the central pulmonary arteries. A quarter were supplied exclusively by systemic-to-pulmonary collateral arteries, with the remainder having a dual supply. Coexistence of ductal connections and systemic-to-pulmonary collateral arteries was seen in one case. Anastomoses between vessels of different origins were observed up to the segmental level in eight of the nine cases. In four cases, the anastomoses formed arterial rings. The extent of pulmonary parenchyma supplied by arteries from different sources and the presence of arterial anastomoses in these malformations have implications on the planning of surgical repair.

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Morphology of the elastic pulmonary arteries in pulmonary hypertension: a quantitative study

Cardiology in the Young ◽

10.1017/s1047951100005151 ◽

1999 ◽

Vol 9 (4) ◽

pp. 364-370 ◽

Cited By ~ 6

Author(s):

Karen A. McLeod ◽

Leon M. Gerlis ◽

Gordon J. Williams

Keyword(s):

Pulmonary Hypertension ◽

Vascular Disease ◽

Intravascular Ultrasound ◽

Morphological Changes ◽

Pulmonary Arteries ◽

Sudden Infant Death ◽

Pulmonary Vascular Disease ◽

Sudden Infant ◽

Major Drawback ◽

Medial Thickening

AbstractRecent studies of intravascular ultrasound of the pulmonary arteries suggest that the technique can detect intimal and medial thickening in patients with pulmonary hypertension, potentially providing a method of assessing severity of pulmonary vascular disease in life. A major drawback of the technique is that only the elastic pulmonary arteries are accessible to current ultrasound catheters. The aim of this study was to determine whether morphological changes in vessels accessible to intravascular imaging reflect severity of pulmonary vascular disease and are of a sufficient degree to be detectable by current ultrasound catheters. Morphometric studies of the elastic pulmonary arteries were performed in specimens of lungs from 24 patients who had died with pulmonary hypertension (aged 3 weeks–9 years) and compared with measurements from infants who had died from sudden infant death syndrome. Morphological changes evident in the elastic pulmonary arteries in pulmonary hypertension included luminal dilation and medial thickening but these changes were too variable to be predictive of the severity of peripheral pulmonary vascular disease. Intimal thickening and atherosclerosis were present only in those with advanced pulmonary hypertensive disease. The changes of medial thickening and luminal dilation, nonetheless, are too variable to be predictive of the severity of peripheral pulmonary vascular disease. Thus, imaging by intravascular ultrasound may help confirm advanced pulmonary vascular disease, but is unlikely to differentiate less severe pulmonary vascular disease when the patient may still potentially be operable.

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Staged Correction of Pulmonary Atresia, Ventricular Septal Defect and Collateral Arteries

10.22541/au.163275129.98299783/v1 ◽

2021 ◽

Author(s):

Pieter van de Woestijne ◽

M. Mokhles ◽

Ingrid van Beynum ◽

Peter de Jong ◽

Jeroen Wilschut ◽

...

Keyword(s):

Ventricular Septal Defect ◽

Septal Defect ◽

Pulmonary Arteries ◽

Pulmonary Atresia ◽

Pulmonary Vasculature ◽

Collateral Arteries ◽

Staged Approach ◽

The Right ◽

Rv Function

Objectives Pulmonary atresia (PA) with ventricular septal defect (VSD) and systemic-pulmonary collateral arteries (SPCA’s) has a variable anatomy with regard to the pulmonary vasculature, asking for an individualized surgical treatment. A protocol was applied consisting of staged unifocalization and correction. Methods Since 1989 39 consecutive patients were included (median age at first operation 13 months). In selected cases a central aorto-pulmonary shunt was performed as first procedure. Unifocalization procedures were performed through a lateral thoracotomy. Correction consisted of shunt takedown, VSD closure and interposition of an allograft between the right ventricle and the reconstructed pulmonary artery. Postoperatively and at follow up echocardiographic data were obtained. Results In 39 patients 66 unifocalization procedures were performed. Early mortality was 5%. Seven patients were considered not suitable for correction, four of them died. One patient is awaiting further correction. Correction was done successfully in 28 patients. Operative mortality was 3% and late mortality 11%. Median follow-up after correction was 19 years. Eleven patients needed homograft replacement. Freedom from conduit replacement was 88%, 73% and 60% at 5, 10 and 15 years respectively. Right ventricular function was reasonable or good in 75 % of the patients. Conclusions After complete unifocalization 30/37 patients (81%) were considered correctable. The main reasons for palliative treatment without correction were pulmonary hypertension and/or inadequate outgrowth of pulmonary arteries. Staged approach of PA, VSD and SPCA’s results in adequate correction and good functional capacity. RV function after correction remains reasonable or good in the majority of patients.

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Abstract 12635: Nationwide Long-term Follow-up of Pulmonary Atresia With Ventricular Septal Defect

Circulation ◽

10.1161/circ.132.suppl_3.12635 ◽

2015 ◽

Vol 132 (suppl_3) ◽

Author(s):

Anu Kaskinen ◽

Juha-Matti Happonen ◽

Ilkka P Mattila ◽

Olli M Pitkänen

Keyword(s):

Surgical Treatment ◽

Ventricular Septal Defect ◽

Pulmonary Artery ◽

Septal Defect ◽

Pulmonary Arteries ◽

Pulmonary Atresia ◽

Palliative Surgery ◽

Total Study Population ◽

Collateral Arteries

Introduction: The naturally poor survival of pulmonary atresia with ventricular septal defect (PA+VSD) has improved due to evolved perioperative and surgical treatment. Studies including PA+VSD patients, both with and without major aortopulmonary collateral arteries (MAPCAs), with extensive follow-up are scarce. This nationwide study aimed to investigate survival and surgical treatment in PA+VSD patients with and without MAPCAs. Methods: Study comprised 109 PA+VSD patients born in Finland between 1970 and 2007. We reviewed retrospectively medical records and operative reports through December 2011, as well as first available angiograms and preoperative angiograms prior to repair attempt. Results: The median follow-up time for the total study population, including also patients who died during the follow-up, was 11.4 years (IQR 0.8 - 21.1). The incidence of PA+VSD, which could be determined reliably from 1995 to 2007, was 6.1 per 100 000 live births. Although the patients with (n = 43) or without MAPCAs (n = 66) showed no difference in survival (p = 0.74), the patients without MAPCAs had better probability to achieve repair (64% vs. 28%, p < 0.0001). The bigger size of true central pulmonary arteries assessed by McGoon index at first angiogram [HR 0.66 (CI95% 0.49 - 0.88) per 0.5 McGoon index units, p = 0.006] and achievement of repair [HR 0.07 (CI95% 0.03 - 0.17), p < 0.0001] improved the overall survival. After successful repair survival was 93% at 1 year and 91% from 2 years on. Palliated patients, instead, had survival at 1, 5, 10, and 20 years of age of 55%, 42%, 34%, and 20% respectively. However, patients with right ventricle - pulmonary artery connection and septal fenestration had better survival than rest of the palliated patients (p = 0.001). Palliation with a systemic-pulmonary artery shunt increased McGoon index by 41% (p < 0.0001). Conclusions: The patients with MAPCAs had higher risk to remain palliated than patients without, although their survival was similar. Survival of PA+VSD was influenced by the initial size of true central pulmonary arteries and whether repair was achieved. Although palliative procedures may not improve the final outcome of PA+VSD, palliative surgery may have a role in its treatment.

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A case of computed tomography diagnosis of truncus arteriosus type IV

Oxford Medical Case Reports ◽

10.1093/omcr/omaa144 ◽

2021 ◽

Vol 2021 (2) ◽

Author(s):

Abid M Sadiq ◽

Adnan M Sadiq

Keyword(s):

Computed Tomography ◽

Septal Defect ◽

Surgical Intervention ◽

Interventricular Septum ◽

Pulmonary Arteries ◽

Truncus Arteriosus ◽

Persistent Truncus Arteriosus ◽

Descending Aorta ◽

Type Iv ◽

Arterial Trunk

ABSTRACT Persistent truncus arteriosus is a rare congenital heart disease with four variants, and the last being the rarest. The prognosis without surgical intervention is poor. In such cases, an echocardiography is not sufficient hence computed tomography (CT) imaging is required. We report a 26-year-old female with difficulty in breathing since childhood with cyanosis. Her echocardiography showed a ventricular septal defect (VSD) and the CT showed a single arterial trunk overriding the interventricular septum with a VSD, and the descending aorta giving rise to the pulmonary arteries suggestive of pseudo truncus, known as truncus arteriosus type IV.

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