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Journal articles on the topic 'Cardiac malformation'

Author: Grafiati

Published: 22 February 2023

Last updated: 25 July 2025

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1

Ali, Sajjad, Muhammad Uzair, Fayaz ur Rehman, Mohammad Imran, Erum Behroz Khan, and Muhammad Asim Khan. "Frequency of congenital cardiac anomalies in patients with anorectal malformations." Professional Medical Journal 27, no. 12 (2020): 2713–18. http://dx.doi.org/10.29309/tpmj/2020.27.12.4782.

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Objectives: To determine the frequency of congenital cardiac anomalies in patients with anorectal malformations. Study Design: Retrospective study. Setting: Department of Pediatric Surgery, Khyber Teaching Hospital, Peshawar. Period: Jan 2018 to June 2018. Material & Methods: All patients from 0 to 30 days of life both males and females (Inclusion criteria) with diagnosed anorectal malformation on clinical and radiological assessment, underwent cardiovascular work up to identify any cardiovascular disease. Patients with intersex disorders and those operated elsewhere were excluded. Mean an

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Manzocchi Besson, Sara, Nicole Jastrow Meyer, Henri Bounameaux, et al. "Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy – a case report and review of the literature." Vasa 48, no. 3 (2019): 276–80. http://dx.doi.org/10.1024/0301-1526/a000770.

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Abstract. Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein

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Morales-Quispe, Jorge A., Cristian Aguilar, and Maria Ganiku-Furujen. "Congenital left ventricular diverticulum." Cardiology in the Young 27, no. 5 (2017): 973–74. http://dx.doi.org/10.1017/s1047951117000245.

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4

Deng, Yanming, Lili Zhan, Zhouli Yu, and Jianfang Wan. "Diagnostic Value of Abdominal B-Ultrasound for Congenital Heart Disease Complicated with Extracardiac Malformation in the Second Trimester of Pregnancy." Evidence-Based Complementary and Alternative Medicine 2022 (July 7, 2022): 1–5. http://dx.doi.org/10.1155/2022/6967655.

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Objective. To explore the diagnostic value of abdominal B-ultrasound in the diagnosis of congenital heart disease complicated with extracardiac malformations in the second trimester of pregnancy. Methods. 50 pregnant women with congenital cardiac malformations and extracardiac malformations diagnosed in our hospital from 2015 to 2019 were retrospectively analyzed. The diagnostic results and the types of congenital heart disease complicated with extracardiac malformations were compared to analyze the diagnostic value of abdominal B-ultrasound. Results. In the diagnosis of 50 fetuses with congen

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Hofmann, Sigrun R., Matthias Weise, and Katharina I. Nitzsche. "An intrathoracic arteriovenous malformation discovered as an extremely uncommon reason of neonatal congestive cardiac failure." Cardiology in the Young 19, no. 5 (2009): 530–33. http://dx.doi.org/10.1017/s1047951109991375.

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AbstractCongenital arteriovenous malformations are rare causes of congestive cardiac failure in neonates. The most common sites are in the head and liver, but other sites include the thorax, the abdomen and the limbs. The onset of failure is usually not in the immediate neonatal period, but later on in life, albeit that lesions such as the arteriovenous malformation of the vein of Galen, and other arteriovenous malformations in different locations which produce high flow can present early. We describe here the first case, to the best of our knowledge, of prenatal detection of an intrathoracic

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Ramakrishnan, Rajani, Shwetal Goraksha, Bhoomika Thakore, Joseph Monteiro, and Manju Butani. "Anaesthetic management of vein of Galen malformation in a very low birth weight preterm baby for endovascular embolisation." Journal of Neuroanaesthesiology and Critical Care 03, no. 02 (2016): 137–40. http://dx.doi.org/10.4103/2348-0548.182332.

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AbstractExtra-cardiac arteriovenous malformations are rare causes of severe cardiac failure in the neonatal period. Aneurysmal malformation of the vein of Galen may lead to a diagnostic confusion because the presenting signs point to a cardiac cause of failure. Endovascular therapy is found to be an effective and safe therapeutic modality available to treat these lesions. Intervention in the newborn is difficult and is preferably postponed until about 5 months. We present the anaesthetic management of a very low birth weight preterm neonate with a vein of Galen malformation who needed interven

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Parikh, Sachin S., Faqian Li, and Michael W. Fong. "Cardiac Arteriovenous Malformation." Journal of the American College of Cardiology 55, no. 16 (2010): e133. http://dx.doi.org/10.1016/j.jacc.2009.11.078.

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Osmundson, Sarah S., Katelin B. Nickel, Susan M. Shortreed, et al. "First-Trimester Antibiotic Use for Urinary Tract Infection and Risk of Congenital Malformations." JAMA Network Open 8, no. 7 (2025): e2519544. https://doi.org/10.1001/jamanetworkopen.2025.19544.

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ImportanceClinical guidelines recommend screening and treating bacteriuria in early pregnancy given that urinary tract infections (UTIs) can cause serious maternal and neonatal consequences. Evidence regarding antibiotic exposure during early pregnancy and risk of congenital malformations is limited and inconsistent.ObjectiveTo compare the risk of congenital malformations following first-trimester exposure to different antibiotic agents used to treat UTI.Design, Setting, and ParticipantsThis population-based cohort study included commercially insured pregnant individuals aged 15 to 49 years wh

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Khanam, A., Sh Abqari, and R. A. Khan. "Congenital heart defects in children with Gastro-intestinal malformations." UKRAINIAN JOURNAL OF PERINATOLOGY AND PEDIATRICS, no. 4(92) (December 28, 2022): 22–27. http://dx.doi.org/10.15574/pp.2022.92.22.

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Background. Congenital malformations of the gastrointestinal (GI) tract are common birth defects detected in the neonatal period and usually present with signs of GI obstruction which at times can be life threatening. Anorectal malformations are among the more frequent congenital anomalies. The co-occurrence of congenital heart defect (CHD) along with GI malformation can significantly affect the natural history of either defect. Purpose - to study the prevalence of GI malformations in children with CHD and study the risk factors. Materials and methods. A total 100 patients of GI malformations

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Jepsen, Britta, Peter Jepsen, Søren Paaske Johnsen, Geert Tschentscher Espersen, and Henrik Toft Sørensen. "Validity of diagnoses of cardiac malformations in a Danish population-based hospital-discharge registry." International Journal of Risk & Safety in Medicine 18, no. 2 (2006): 77–81. https://doi.org/10.3233/jrs-2006-368.

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Studies of drug-induced birth defects require large sample sizes from high-quality datasets. The Danish discharge registries allow large sample sizes, but the quality of the diagnosis coding is largely unknown. We therefore examined the validity, expressed as the positive predictive value, of discharge diagnoses of cardiac malformations registered in the Danish population-based North Jutland County Hospital Discharge Registry. We reviewed the medical records of 418 (99%) of the 423 children with a first-time diagnosis of cardiac malformation between 1 January 1994 and 31 March 2002. Record rev

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Li, Xiaosong, Hongmei Xia, Dan Wang, Junke Zhu, and Jianhua Ran. "The Ultrasonic Microsurgical Anatomical Comparative Study of the CHD Fetuses and Their Clinical Significance." BioMed Research International 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/520394.

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The aim of our study was to increase the detection rate of fetal cardiac malformations for congenital heart disease (CHD). The ultrasonic and microanatomical methods were combined to study the CHD cases firstly, which could provide the microsurgical anatomical basis to the prenatal ultrasonic diagnosis which was used in suspected CHD and help the sonographer to improve the quality of fetal cardiac diagnosis. We established the ultrasonic standard section of the 175 complex CHD cases and collected the fetal echocardiography image files. The induced/aborted fetuses were fixed by 4% paraformaldeh

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Im, S. J., J. A. Niec, A. Weitkamp, and A. Sarma. "Non-Galenic Pial Arteriovenous Fistula: Case Report of a Rare High-Flow Vascular Anomaly in a Neonate." Neurographics 15, no. 2 (2025): 127–30. https://doi.org/10.3174/ng.2300060.

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Non-Galenic pial arteriovenous fistulas (NGPAVFs) are very rare in neonates and pose serious risk for morbidity and mortality. NGPAVFs are characterized by a direct arteriovenous connection between a pial artery and a cortical vein without an intervening capillary bed. Lack of a nidus differentiates an arteriovenous fistula from an arteriovenous malformation. In neonates, the clinical presentation and prognosis of NGPAVF are similar to those of the more common vein of Galen aneurysmal malformation, from which it must be differentiated. We report a case of a high-flow, multi-hole variant of a N

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Saavedra, Héctor, Celina Toncel, Vanessa Delgado, Orlando Borré, and José Rojas-Suárez. "Reversible pulmonary hypertension and high-output heart failure triggered by pregnancy in a patient with congenital arteriovenous malformation: A case report." Obstetric Medicine 12, no. 2 (2018): 97–99. http://dx.doi.org/10.1177/1753495x18766975.

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Background Arteriovenous malformations rarely cause congestive heart failure. Pregnancy may in theory trigger heart failure associated with congenital arteriovenous malformations leading to secondary pulmonary hypertension, but no cases have been reported proving that condition. Methods and results We report a 23-year-old pregnant woman at 36 + 5 weeks of gestation requiring urgent medical care because of shortness of breath. High-output heart failure was suspected, and a congenital arteriovenous malformation on the right scapular region was considered as the possible origin. The patient requi

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Soomro, Shazia ,., Misbah Anjum, Shazia Kulsoom, Safia Bibi, Pervez Ali, and Bilquis Naeem. "Clinical Presentation and Outcome of Congenital Thoracic Malformations in Children Beyond Neonatal Period." Pakistan Journal of Medical and Health Sciences 16, no. 8 (2022): 775–77. http://dx.doi.org/10.53350/pjmhs22168775.

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Objective: To describe the clinical spectrum of presentation and outcome of children with congenital thoracic malformations beyond neonatal age. Methodology: Cross sectional study conducted at inpatient department of National institute of child health from Jan-Dec 2021. All patients hospitalized in study duration with diagnosis of congenital thoracic formations from 1 month till 12 years of age were enrolled. History, examination, laboratory tests, treatment and outcome were recorded. Results: Total 44 children were enrolled with mean age of 7.7+10.8 months. Common congenital thoracic malforma

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Vida, Vladimiro L., Joaquín Barnoya, Luis A. Larrazabal, Guillermo Gaitan, Flor de Maria Garcia, and Aldo R. Castañeda. "Congenital cardiac disease in children with Down's syndrome in Guatemala." Cardiology in the Young 15, no. 3 (2005): 286–90. http://dx.doi.org/10.1017/s1047951105000582.

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Background:Congenital cardiac disease is the greatest cause of death in patients with Down's syndrome during the first two years of life, with from two-fifths to two-thirds of those with Down's syndrome also having congenital cardiac malformations. The lesions within the heart can be single or multiple. Our objective was to evaluate the frequency and type of such congenital cardiac malformations in patients born with Down's in Guatemala, and to provide baseline information for further research.Methods:We reviewed all patients with Down's syndrome who underwent a cardiologic screening examinati

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Uzma, Khanam, Abid, and Kumbar Bhagyashri V. "Regional Anesthesia Challenges in a Pregnant Patient with VACTERL Association: A Case Report." International Journal of Clinical Anesthesia and Research 9, no. 1 (2025): 010–12. https://doi.org/10.29328/journal.ijcar.1001027.

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VACTERL (V: Vertebral anomalies, A: Anal malformation, C: Cardiac defect, TE: Tracheoesophageal malformation, R: Renal anomalies, L: Limb anomalies) is a cluster of congenital malformations. It is a rare association with sporadic and non-random occurrence where multiple organs are affected due to developmental defect during blastogenesis (2-4 weeks of gestation), where abnormal structures are derived from the embryonic mesoderm. Multiple environmental and genetic factors have been implicated. We report the successful management of a patient with VACTERL association born to a mother through an

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Venkatesan, Charu, Beth Kline- Fath, Paul S. Horn, Kelsey E. Poisson, Rob Hopkin, and Usha D. Nagaraj. "Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst." Journal of Child Neurology 36, no. 12 (2021): 1111–19. http://dx.doi.org/10.1177/08830738211049115.

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Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubat

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Zsuzsanna, Suciu, Jakó Beáta, Benedek Theodora, and Benedek I. "Cardiac Computed Tomography Angiography for Imaging Coronary Arteriovenous Malformation: a Case Report." Acta Medica Marisiensis 60, no. 1 (2014): 22–24. http://dx.doi.org/10.2478/amma-2014-0006.

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Abstract Background: Coronary arteriovenous malformation is a rare congenital disease consisting mainly in a direct communication between a coronary artery and any one of the four cardiac chambers, coronary sinus, pulmonary arteries or veins. This disease can lead to various cardiovascular events, their severity depending on the degree of the malformation. Case report: We present the case of a 56-year-old male patient, who was admitted to our institution with dyspnea, palpitation and chest pain, having a history of hypertension and hyperlipidemia, and an abnormal electrocardiogram. Physical ex

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Samánek, Milan, Zdenek Slavík, and Miroslav Krejcir. "Annual and seasonal variations in the prevalence of congenital cardiac malformations in live-born infants." Cardiology in the Young 2, no. 2 (1992): 152–57. http://dx.doi.org/10.1017/s1047951100000780.

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SummaryThe annual and seasonal distribution of the prevalence of congenital cardiac malformations was calculated in 664,218 infants born from 1977 to 1984 in Bohemia (population of 6.3 million). All children who died were autopsied and those confirmed as having a malformation of the heart were included in our series. In total, 4,409 infants (6.64/1,000 live-births) were born with a cardiac defect. Annual variations were insignificant. The prevalence rate of cardiac malformations at birth was highest in October and lowest in December, June and July. It was not modified by differences in the bir

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Zhu, Cheng, Min Wang, and Qian Hao. "A Case Report: Type II Abernethy Malformation Complicated with Congenital Polydactyly and Enlargement of all Cardiac Chambers." Open Medicine Journal 7, no. 1 (2020): 32–35. http://dx.doi.org/10.2174/1874220302007010032.

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Background: Abernethy malformation is a kind of congenital malformation of the portal vein system caused by abnormal portacaval shunts. It can be in combination with many other congenital malformations. There has been a limited number of patients since the first patient was reported, leading to limited knowledge of this kind of disease. Methods: In August 2018, we treated a patient diagnosed with type II Abernethy malformation complicated with both congenital polydactyly and enlargement of all cardiac chambers, which is extremely rare and can be supplementary to the existing cases. According t

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Chapot, R., A. Laurent, O. Enjolras, D. Payen, and E. Houdart. "Fatal Cardiovascular Collapse during Ethanol Sclerotherapy of a Venous Malformation." Interventional Neuroradiology 8, no. 3 (2002): 321–24. http://dx.doi.org/10.1177/159101990200800314.

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We report a case of fatal cardiovascular collapse that occurred during Ethanol sclerotherapy of a venous malformation in a 21-year-old woman. The malformation was located on the anterior part of the thigh. Fifty ml of a mixture of Ethanol, Ethibloc and Lipiodol containing 35 ml of Ethanol (0.52 ml / kg) were injected under fluoroscopy. A major drop in arterial pressure was recorded after release of the tourniquet placed at the thigh root. The patient died after four hours of intensive cardiac reanimation. Her blood alcohol level was 0.4 g/l one hour after the end of the intervention. The cardi

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Tansel, Türkan, Fehmi Yazicioğlu, Atilla Çankaya, and Levent Yaşar. "Cardiac Malformation in Thoracopagus Twins." Asian Cardiovascular and Thoracic Annals 9, no. 3 (2001): 237–39. http://dx.doi.org/10.1177/021849230100900322.

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Nawara-Baran, Agnieszka. "The Prognosis for Fetuses with Vein of Galen Malformation and Symptoms of Heart Failure." Prenatal Cardiology 7, no. 1 (2017): 83–87. http://dx.doi.org/10.1515/pcard-2017-0012.

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Abstract Vein of Galen Malformation (VGM) it is the most common cerebral arteriovenus malformation in fetuses and children. Usually VGM causes volume overload of the heart and can induce mass effect in the brain, causing progressive neurological impairment. Modern treatment allow on earlier therapy (before the 5th monthof life). This gives the newborn with isolated VGM and heart failure a chance of survival. This work presents case of isolated vein of Galen malformation with diagnosed cardiomegaly, monophasic flow through the tricuspid valve, large right heart, pericardiac effusion, dilatation

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Ciricillo, Samuel F., Klaus G. Schmidt, Norman H. Silverman, et al. "Serial Ultrasonographic Evaluation of Neonatal Vein of Galen Malformations to Assess the Efficacy of Interventional Neuroradiological Procedures." Neurosurgery 27, no. 4 (1990): 544–48. http://dx.doi.org/10.1227/00006123-199010000-00007.

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Abstract Two-dimensional echocardiography complemented with color-flow imaging and pulsed Doppler ultrasound was used to evaluate one fetus and five neonates with a vein of Galen malformation who had severe high-output congestive heart failure and cranial bruits at birth. Intracranial blood flow through the vein of Galen malformations, cardiac status, and direction of aortic blood flow were assessed before and after staged interventional neuroradiological treatment with transarterial and transvenous embolization procedures. Color-flow imaging in each infant displayed the major vascular anatomy

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Ilham Elouardighi, I. Zizi L. El iaziji N Amalik, and A Barkat. "Association of esophageal atresia and duodenal atresia: A case report." World Journal of Biology Pharmacy and Health Sciences 14, no. 1 (2023): 062–64. http://dx.doi.org/10.30574/wjbphs.2023.14.1.0169.

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Combined esophageal and duodenal atresia is a rare congenital malformation; its incidence is not well defined in the literature. Other associated malformations may include vertebral, anal, cardiac, renal and limb anomalies as part of a VACTREL syndrome. We report an atypical case of association of esophageal and duodenal atresia in a newborn whose diagnosis of duodenal stenosis was made antenatally at ultrasound. and the diagnosis of esophageal atresia was made at birth in the delivery room. The treatment of this malformation consists of an early surgical intervention to establish the digestiv

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Ilham, Elouardighi, Zizi L. El iaziji N. Amalik I., and Barkat A. "Association of esophageal atresia and duodenal atresia: A case report." World Journal of Biology Pharmacy and Health Sciences 14, no. 1 (2023): 062–64. https://doi.org/10.5281/zenodo.8036907.

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Combined esophageal and duodenal atresia is a rare congenital malformation; its incidence is not well defined in the literature. Other associated malformations may include vertebral, anal, cardiac, renal and limb anomalies as part of a VACTREL syndrome. We report an atypical case of association of esophageal and duodenal atresia in a newborn whose diagnosis of duodenal stenosis was made antenatally at ultrasound. and the diagnosis of esophageal atresia was made at birth in the delivery room. The treatment of this malformation consists of an early surgical intervention to establish the digestiv

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Cavalcanti dos Santos, Lucas, Eloisa Nascimento Jorge, Luciana Alvares Calvo, and Janilson de Souza Cavalcante. "POLIESPLENIA E ANOMALIA DO SISTEMA PORTAL HEPÁTICO ASSOCIADAS À AUSÊNCIA DE VEIA CAVA INFERIOR EM CRIANÇA: RELATO DE CASO." Colloquium Vitae 12, no. 3 (2021): 102–5. http://dx.doi.org/10.5747/cv.2020.v12.n3.v315.

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Agenesis of inferior vena cava (IVC)is a rare cardiovascular malformation that occurs between the sixth and tenth week of embryogenesis. It may be associated with cardiac and abdominal malformations, besidescomplications such as deep vein thrombosis (DVT). The present study reports the case of a patient randomly diagnosed with total IVC agenesis associated with malformation of the portohepatic system and polysplenia. Female patient, 9 years old, being monitored for hemorrhagic dengue, withcomputed tomographyand abdominal ultrasound revealing anomaly of the development of the hepatic portal sys

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McCammond, Amy N., Erin R. Rudzinski, Brian J. Morrison, and Michael Silberbach. "Intramuscular small vessel arteriovenous malformation of the left ventricle in an asymptomatic adolescent: a case report and literature review." Cardiology in the Young 23, no. 5 (2013): 656–60. http://dx.doi.org/10.1017/s1047951113000346.

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AbstractPrimary vascular tumours of the heart are rare and heterogeneous in their presentation and classification. We present a primary intramuscular vascular malformation of the left ventricle in an asymptomatic 12-year-old girl. Characteristics on cardiac magnetic resonance imaging, specifically increased signal intensity on T2-weighted images, and marked contrast enhancement with gadolinium were suggestive of increased vascularity. Histologically, the mass was determined to be an intramuscular vascular malformation of the small vessel arteriovenous subtype. This represents one of a select f

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Gorenflo, Matthias, Christian Sebening, and Herbert E. Ulmer. "Anomalous connection of the right superior caval vein to the morphologically left atrium." Cardiology in the Young 16, no. 2 (2006): 184–86. http://dx.doi.org/10.1017/s1047951106000151.

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Anomalous drainage of the right superior caval vein into the morphologically left atrium as an isolated cardiac malformation is a rare anomaly. Most patients present with cyanosis. Thus far, about 20 cases have been reported in the literature. We report a case of cyanosis due to this malformation in a male neonate, which was complicated by the meconium aspiration syndrome. The malformation was diagnosed by echocardiography and cardiac catheterization. Surgery resulted in complete recovery.

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Wang, Hongjie, Jingwei He, Xuemei Han, et al. "hoxa1a-Null Zebrafish as a Model for Studying HOXA1-Associated Heart Malformation in Bosley–Salih–Alorainy Syndrome." Biology 12, no. 7 (2023): 899. http://dx.doi.org/10.3390/biology12070899.

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Mutations in HOXA1 can lead to diseases such as Bosley–Salih–Alorainy syndrome, involving severe cardiovascular malformations. However, the role of HOXA1 in cardiac morphogenesis remains unclear. hoxa1a is a homologous gene to human HOXA1 in zebrafish. We used CRISPR to make hoxa1a-null zebrafish that exhibited multiple heart malformations. In situ hybridization and sections revealed the morphological changes in mutants: enlarged ventricle with thickened myocardium and increased trabeculae, intensified OFT and inadequate heart looping, with electrocardiography supporting these pathological cha

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Iannaccone, Silvia Farkašová, David Sedmera, Alžbeta Ginelliová, Peter Bohuš, Lucia Mistríková, and Daniel Farkaš. "Cor Triatriatum Dexter Associated with an Ostium Primum Atrial Defect and Left-Sided Opening of the Coronary Sinus in a Stillborn Fetus." Journal of Cardiovascular Development and Disease 10, no. 9 (2023): 370. http://dx.doi.org/10.3390/jcdd10090370.

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Cor triatriatum is a very rare cardiac malformation characterized by the presence of an abnormal interatrial membrane separating either the left or right atrial chamber into two compartments. It can be associated with other cardiac defects and is often symptomatic in childhood. The signs depend on the size and position of the interatrial membrane and other associated malformations. Here we report a case of right-sided cor triatriatum associated with an ostium primum-type interatrial septum defect and left-sided opening of the coronary sinus in a fetus. The cause of intrauterine death was asphy

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Sultan, Mohammad Ashraf Uddin, and Naveen Sheikh. "Residua, Sequelae and Complications of Cardiac Defects in Adult Congenital Heart Disease after Repair at an Early Age." University Heart Journal 20, no. 1 (2025): 31–35. https://doi.org/10.3329/uhj.v20i1.78482.

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A cardiac malformation, also known as a congenital heart defect, is a structural problem with the heart or blood vessels that is present at birth. These abnormalities occur when the heart or blood vessels don’t form correctly in the womb. They are formed during the intra-uterine life and become visible between the 3rd and 8th week of pregnancy, when the heart is formed. Cardiac malformations include: Ventricular Septal defects, Transposition of the great vessels and Coarctation of the aorta. In most cases, the cause of cardiac malformations in unknown. Some know causes include: Maternal diabet

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Faiz, M. "VP22.23: Fetal complex rare cardiac malformation." Ultrasound in Obstetrics & Gynecology 58, S1 (2021): 193. http://dx.doi.org/10.1002/uog.24367.

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Aguilera, Beatriz, M. Paz Suárez-Mier, and Trinidad Argente. "Cardiac arteriovenous malformation causing sudden death." Cardiovascular Pathology 13, no. 5 (2004): 296–98. http://dx.doi.org/10.1016/j.carpath.2004.06.002.

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Kennedy, John T., Peter D. Wearden, and Jennifer S. Nelson. "Cardiac venous malformation in a teenager." Cardiology in the Young 29, no. 06 (2019): 833–34. http://dx.doi.org/10.1017/s1047951119000878.

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AbstractWe present the case of a 17-year-old boy with a cardiac venous malformation. This case highlights the diagnostic challenges of such tumours and demonstrates the potential efficacy of a watch-and-wait management approach.

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Harris, Samar, Harris V. K. Naina, and Taylor Dowsley. "Cardiac Cirrhosis and Systemic Arteriovenous Malformation." American Journal of Gastroenterology 101 (September 2006): S380. http://dx.doi.org/10.14309/00000434-200609001-00958.

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van Dooren, Marieke F., Natascha N. T. Goemaere, Annelies de Klein, Dick Tibboel, and Ronald R. de Krijger. "Postmortem Findings and Clinicopathological Correlation in Congenital Diaphragmatic Hernia." Pediatric and Developmental Pathology 7, no. 5 (2004): 459–67. http://dx.doi.org/10.1007/s10024-004-1118-2.

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Congenital diaphragmatic hernia (CDH) is a severe life-threatening disease, with an incidence of 3 per 10,000 births, that can occur as an isolated defect or in combination with other congenital anomalies. We reviewed the clinical and autopsy reports of 39 subjects with CDH that were autopsied between 1988 and 2001 to determine whether autopsy had an additional value in the detection of malformations in patients with CDH. We compared the clinical data (including echographic results in some patients) concerning congenital anomalies with the autopsy results. Before autopsy, 6 structural cardiac

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Ayamba, Ali Mahamudu, Raymond Saa-Eru Maalman, Yaw Otchere Donkor, and John Noah Anyorigiya. "Complete Penoscrotal Transposition with Other Extragenital Anomalies in a Neonate Delivered at Term." Case Reports in Urology 2021 (March 31, 2021): 1–4. http://dx.doi.org/10.1155/2021/6676301.

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A complete penoscrotal transposition (CPST) is a very uncommon congenital maldevelopment that is always associated with other abnormal body variations (malformations). We report a rare case of a term neonate delivered with CPST, which had a flaccid penis and an intact scrotum with unilateral limb and digital deformity, imperforate anus, cardiac malformation a facial deformity. Neonate died two hours after delivery. The foetal abnormality was not detected through routine antenatal services received by the mother.

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Chaudhuri, Gaurab Ranjan, Ruma Guha, Rajesh Hansda, and Soumendra Nath Bandyopadhyay. "A-V malformation of nose: A rare challenging case." Asian Journal of Medical Sciences 8, no. 1 (2017): 94–97. http://dx.doi.org/10.3126/ajms.v8i1.13121.

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Congenital A-V malformations of head-neck region are extremely uncommon lesions encountered in clinical practice. They may lead to a wide array of clinical effects from cosmetic disfigurement and recurrent life threatening haemorrhage to cardiac failure. Treatment of these lesions pose a challenge to reconstructive surgeons due to their extreme vascularity, high incidence of recurrence and involvement of adjacent vascular channels. The case presented here is a congenital A-V malformation treated successfully by thorough surgical excision and reconstruction by a well vascularised flap.Asian Jou

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Puccinelli, Francesco, Minh Ngoc Thien Kim Tran Dong, Marta Iacobucci, et al. "Embolization of cerebral arteriovenous shunts in infants weighing less than 5 kg." Journal of Neurosurgery: Pediatrics 23, no. 5 (2019): 597–605. http://dx.doi.org/10.3171/2018.11.peds1865.

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OBJECTIVEEndovascular treatment in children, especially neonates, can be more challenging than analogous procedures in adults. This study aimed to describe the clinical and radiological findings, type and timing of endovascular treatment, and early outcomes in children who present with neurovascular malformations, who are treated with embolization, and who weigh less than 5 kg.METHODSThe authors carried out a retrospective review of all consecutively treated children weighing less than 5 kg with neurovascular arteriovenous malformations (AVMs) at a single institution over a 10-year period.RESU

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Loo, Christine K. C., Elizabeth M. Algar, Diane J. Payton, Joanna Perry-Keene, Tamara N. Pereira, and Grant A. Ramm. "Possible Role of WT1 in a Human Fetus with Evolving Bronchial Atresia, Pulmonary Malformation and Renal Agenesis." Pediatric and Developmental Pathology 15, no. 1 (2012): 39–44. http://dx.doi.org/10.2350/11-03-0997-oa.1.

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The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis,

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Sundararaj, Rajkumar, Santhosh Arulprakasam, Emayah Tenzing, and Muthapillai Senthilnathan. "Abernethy Malformation with Pulmonary Arteriovenous Malformations in a Pediatric Patient: An Anesthetic Challenge." SBV Journal of Basic, Clinical and Applied Health Science 8, no. 1 (2025): 27–29. https://doi.org/10.4103/sbvj.sbvj_10_25.

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Abernethy malformation is a rare congenital vascular anomaly of the splanchnic venous system, leading to portosystemic shunting and related symptoms. A 7-month-old child was admitted with cyanosis and respiratory distress. Echocardiography revealed dilated biatrium and left superior vena cava into the coronary sinus. A bubble contrast study suggested pulmonary arteriovenous malformation (AVM) necessitating cardiac catheterization study for embolization. The child was induced with fentanyl, ketamine, and vecuronium after preoxygenation. Hypothermia prevention and measures to address pulmonary v

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Mureşan, Daniel, Claudiu Mărginean, Gabriela Zaharie, and Florin Stamatian. "Complete atrioventricular septal defect in the era of prenatal diagnosis." Medical Ultrasonography 18, no. 4 (2016): 500. http://dx.doi.org/10.11152/mu-879.

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Complete atrioventricular septal defect (CAVSD) is a fetal cardiac malformation (5% of all cardiac malformations) that can be detected prenatally with a reserved prognosis. The diagnosis can be suspected early at the end of the first trimester using the transabdominal or transvaginal ultrasound approach. Generally, the diagnostic can be established during the mid-trimester scan at 19-24 weeks of gestation. The percentage of antenatal diagnostic of CAVSD is between 57-92%. This review aims to analyze the anatomical principles and the ultrasound techniques that can improve the prenatal diagnosis

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Eskedal, Leif, Petter Hagemo, Anne Eskild, Geir Aamodt, Karry Stephen Seiler, and Erik Thaulow. "A population-based study of extra-cardiac anomalies in children with congenital cardiac malformations." Cardiology in the Young 14, no. 6 (2004): 600–607. http://dx.doi.org/10.1017/s1047951104006043.

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We describe the prevalence of extra-cardiac anomalies in children with congenital cardiac malformations, and their impact on survival, compared to the outcome in children with the congenital cardiac lesions as the only recognised anomaly.Our population comprises the 3527 children born with congenital cardiac anomalies between 1990 and 1999, and registered at the largest tertiary centre for Paediatric Cardiology in Norway. Extra-cardiac anomalies were found in one-fifth of the population, with Down's syndrome accounting for nearly one-third. Survival improved for children born between 1995 and

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Mogyorosy, Gabor, Tunde Karacsonyi, Eva Szucs, Laszlo Kiraly, Tamas Kovacs, and Andras Szatmari. "The application of a simplified system of criterions for audit to improve paediatric cardiologic and paediatric cardiac surgical care: evidence from a regional approach in Hungary." Cardiology in the Young 16, no. 2 (2006): 128–34. http://dx.doi.org/10.1017/s1047951106000047.

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Aims:To evaluate the quality of cardiac and surgical care provided for children with congenital cardiac malformations in the eastern county of Hungary.Methods:We used the method of clinical audit based in selection of criterions, developing five such criterions concerning timely diagnosis, access to treatment, and outcome. To examine compliance with these criterions, we analysed retrospectively the routine data relating to children living in Hajdu-Bihar County. The period of observation lasted from January, 1994, until December, 2001, and was divided into two epochs in order to evaluate any ch

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Prochazka, V., T. Hrbac, J. Chmelova, D. Skoloudik, and M. Prochazka. "PHACE Syndrome: Persistent Fetal Vascular Anomalies." Interventional Neuroradiology 11, no. 4 (2005): 355–61. http://dx.doi.org/10.1177/159101990501100408.

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PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.

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Wendelin, Gerald, Erwin Kitzmüller, and Ulrike Salzer-Muhar. "PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels." Cardiology in the Young 14, no. 2 (2004): 206–9. http://dx.doi.org/10.1017/s1047951104002173.

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The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels ar

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Gaurab Ranjan Chaudhuri, Ruma Guha, Rajesh Hansda, and Soumendra Nath Bandyopadhyay. "A-V malformation of nose: A rare challenging case." Asian Journal of Medical Sciences 8, no. 1 (2017): 94–97. https://doi.org/10.71152/ajms.v8i1.4006.

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Congenital A-V malformations of head-neck region are extremely uncommon lesions encountered in clinical practice. They may lead to a wide array of clinical effects from cosmetic disfigurement and recurrent life threatening haemorrhage to cardiac failure. Treatment of these lesions pose a challenge to reconstructive surgeons due to their extreme vascularity, high incidence of recurrence and involvement of adjacent vascular channels. The case presented here is a congenital A-V malformation treated successfully by thorough surgical excision and reconstruction by a well vascularised flap. Asian Jo

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Davis, Andrew M., Meredith M. Silver, and Robert M. Freedom. "Benign congenital cardiac tumor associated with a ‘malignant’ cardiac malformation." Cardiology in the Young 6, no. 1 (1996): 84–87. http://dx.doi.org/10.1017/s1047951100003310.

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SummaryWe describe a multicystic tumor of the atrial septum associated with a fatal cardiac malformation. The tumor contained bronchogenic cysts and two types of vascular hamartomas. A complex form of double outlet right ventricle was present. We speculate that this tumor formed at a critical time in cardiac embryogenesis and contributed to the abnormal formation of the heart.

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Li, Jingya, Ya Yang, Xiaomin Duan, et al. "Berry syndrome: a rare cardiac malformation with extra-cardiac findings." Science China Life Sciences 60, no. 7 (2017): 772–74. http://dx.doi.org/10.1007/s11427-017-9086-7.

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