Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

Tumour lysis syndrome in a neonate with transient abnormal myelopoiesis.

BACKGROUND: Tumor lysis syndrome (TLS) is an oncological emergency associated with hematological malignancies or highly proliferative solid tumors, commonly after chemotherapy. It is rarely associated with transient abnormal myelopoiesis. OBSERVATION: We report a rare case of a neonate with transient abnormal myelopoiesis and tumor lysis syndrome, complicated with concomitant heart failure due to an underlying atrioventricular septal defect. Hyperhydration was contraindicated due to heart failure. The patient was managed conservatively with full recovery. CONCLUSION: Tumor lysis syndrome should be suspected in neonates with transient abnormal myelopoiesis with electrolyte abnormalities. Treatment options should be considered carefully for their risks and benefits.

Rare case of total anomalous pulmonary venous return into the right atrium in situs solitus.

We report an uncommon case report of total anomalous pulmonary venous returns into the right atrium at the base of the superior caval vein's ostium without a sinus venosus defect, in situs solitus, without vertical vein or a posterior pulmonary venous confluence.

Various techniques for transcatheter retrieval of the atrial septal defect or patent foramen ovale closure devices: a systematic review.

Atrial septal abnormalities are common congenital lesions that remain asymptomatic in many patients until adulthood. Adults with atrial septal defects (ASD) most commonly have ostium secundum ASD. Transcatheter closure has become increasingly popular in recent years as a successful alternative method to surgery for treating ASD and patent foramen ovale (PFO). The overall rate of ASD transcatheter closure device embolization has been reported to be less than 1%; however, retrieving the device via surgery or by trans-catheter route can be necessary. The current manuscript describes a systematic review of the techniques used to retrieve ASD closure devices, as well as their success rates, complications, and limitations. A comprehensive search was performed covering various databases including PubMed, MEDLINE, SCOPUS, Google Scholar, and Cochrane Library from inception until April 2022 for English-published case reports, case series, and experimental studies investigating the indications, safety, and limitations of ASD closure and ASD device retrieval by trans-catheter approaches. Finally, 20 studies were included in our review. Our findings showed that most of the studies used a single snare technique; of these, all but one reported 100% success. Double tool retrieval methods (snare plus snare, snare plus bioptome, or snare plus forceps) and the gooseneck snare technique yielded 100% success. One study that used the lasso technique reported unsuccessful retrieval and the need for surgical intervention. More recently, the novel "coronary wire trap technique" was introduced, which provides a simpler method for embolized device removal by trapping the device for retrieval using coronary wire.

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease-causing variants in PRKACA. The primary phenotypic description includes atrial septal defects, and limb anomalies including polydactyly and short limbs. To date, only four molecularly proven patients have been reported in the literature with a recurrent variant, c.409G>A p.Gly137Arg in PRKACA. In this study, we report the fifth affected individual with the same variant and review the clinical features and radiographic findings of this rare syndrome.

Cerebral Embolism and MINOCA Secondary to Left Atrial Myxoma after Occlusion of Atrial Septal Defect by Amplatzer Occluder: A Case Report.

Primary heart tumors are rare, with atrial myxomas being the most common type. Atrial myxomas can lead to embolisms, heart obstruction, and systemic symptoms. Herein, we report a case of 72-year-old woman who presented with a left atrial myxoma at the atrial septal defect occluder, a new acute cerebral infarction, and MINOCA (myocardial infarction with no obstructive coronary atherosclerosis). Left atrial myxoma is a common primary cardiac tumor; however, left atrial myxomas arising after percutaneous atrial septal defect occlusion are rare. Additionally, the patient presented with a new case of multiple systemic emboli. The patient underwent surgical resection of a left atrial myxoma, occluder, and left atrium, and atrial septal repair, and was discharged with good recovery for outpatient follow-up. The possibility of a cardiac tumor, especially an atrial myxoma, which can lead to a series of complications, should be considered at the closure site after percutaneous atrial septal closure. Therefore, active surgical treatment and long-term follow-up are warranted in such cases.

Long term outcome after surgical ASD-closure at young age: Longitudinal follow-up up to 50 years after surgery.

OBJECTIVES: To describe the clinical outcome and quality of life up to 50 years after surgical atrial septal defect (ASD) closure at young age. Primary outcome is defined as MACE (all-cause mortality, cardiac re-interventions, ischemic stroke, endocarditis, heart failure and symptomatic arrhythmia). METHODS: Single-center, longitudinal cohort-study evaluating 135 consecutive patients who underwent ASD-closure before the age of 15 years between 1968 and 1980. Participants were invited for extensive cardiac evaluation and assessment of quality-of-life every 10 years. RESULTS: Eighty patients (86%) of 93 eligible survivors were included in this study (mean age 52 ± 5 years (range 41-63), 40% male). Median follow-up since surgery was 45 years (range 40-51). Cumulative survival after 50 years was 86% and comparable to the normal Dutch population. Cumulative event-free survival after 45 and 50-years was 59% and 46% respectively (re-intervention in 6, symptomatic arrhythmia in 25, and pacemaker implantation in 10 patients). Right ventricular ejection fraction on CMR was diminished in 6%. Exercise capacity was normal in 77%. There was no pulmonary hypertension. NT-proBNP was elevated in 61%. Quality of life was comparable with the general population. No predictors for late events were identified. CONCLUSION: Long-term survival after surgical ASD-closure in childhood is good and not statistically different at 50 years compared to the normal Dutch population. Re-intervention rate is low, there is no pulmonary hypertension. Right ventricular function was diminished in 6%, exercise capacity was good and stable over time with quality of life comparable to the general population. However, supraventricular tachycardia is common.

Hypoxia following warden procedure: evaluation and percutaneous treatment.

Partial anomalous venous connection with sinus venosus atrial septal defect is repaired with different approaches including the Warden procedure. Complications include stenosis of the superior caval vein and pulmonary venous baffle; however, cyanosis is rarely seen post-operatively. We report a patient presenting with cyanosis 5 years after a Warden, which was treated with a transcatheter approach.

Single tertiary center experience using Gore Cardioform Atrial Septal Defect Occluder for secundum atrial septal defect closure with a focus on deficient rims.

BACKGROUND: The data on the use of Gore Cardioform Septal Occluder (GCA; W. L. Gore and Associates, Inc.) for atrial septal defect (ASD) with deficient rims is limited. METHODS: All patients evaluated by transesophageal echocardiogram (TEE) for ASD occlusion were included. TEE planes at 35°, 0°, and 90° were assessed for anterior-superior (AS) and posterior (P), anterior-inferior (AI) and posterior-superior (PS), as well as superior (S) and inferior (I) rims. ASD size >20 mm, and rims less than 5 mm were defined as large and deficient, respectively. We included patients who had a procedural failure along with the patients in whom the procedure was not attempted after echocardiogram in the unsuccessful group. RESULTS: In 148 patients, the median weight, age, and ASD size were 36 kg (range, 8-60 kg), 11.8 years (range, 1-60 years), and 14.2 ± 8.28 mm, respectively. One or more deficient rims were noted in 112 of 148 (75.7%): 99 (67%) AS, 36 (24%) P, 17 (11%) AI, 30 (20%) PS, 26 (18%) S, and 33 (22%) I. ASD closure was performed in 115 (78%) patients. The procedure was successful in 111 (96.5%) patients with procedural failure in 4 (3.4%) patients. Multiple deficient rims were associated with reduced procedural success (OR 0.36, 95% CI, 0.25-0.56). On multivariate analysis deficient P, PS, and I rims were associated with an unsuccessful group (P = .001, .046, and .005, respectively). Complications included 1 device embolization, 1 vascular injury, and 5 arrhythmias. CONCLUSIONS: Transcatheter closure of ASDs with deficient rims is feasible using GCA. Large ASDs with deficient P, PS, and I rims were associated with unsuccessful closure. Risk stratification and comprehensive evaluation of ASD rims is vital for the use of GCA.

Cor triatriatum sinister with dextrocardia in association with ostium secundum atrial septal defect, subpulmonary ventricular septal defect and bicuspid pulmonary valve in a pig.

Necropsy of a 52-day-old Camborough pig revealed numerous cardiac malformations. The positional relationship of the atria, ventricles and great vessels was a mirror image type (I, L and L): inverted arrangement of the atria, with a left-sided right atrium and right-sided left atrium (situs inversus); inverted arrangement of the ventricles, with a left-sided morphological right ventricle and right-sided morphological left ventricle (L-loop); and aortic valve to the front left relative to the pulmonary valve (L-malposed). The major malformations included an ostium secundum atrial septal defect, cor triatriatum sinister (CTS), a subpulmonary ventricular septal defect and a bicuspid pulmonary valve. Histological examination revealed myocyte hypertrophy, focal myocardial necrosis and calcification in the left morphological right ventricle of the heart. To the best of our knowledge, this is the first report of CTS in pigs. Although the individual malformations found in the present case are not unique, an unusual combination of these cardiac malformations has not been described in animals.

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.

Holt-Oram syndrome or atriodigital dysplasia is commonly associated with cardiac malformations, most often with defects of the muscular septum. We describe the case of a fetus referred for fetal cardiology evaluation in the setting of right atrial enlargement without tricuspid valve abnormalities with small muscular VSDs, and without other significant cardiac lesions. On serial fetal echocardiograms, isolated right atrial enlargement was persistent as was relative fetal bradycardia without apparent AV block or other signs of abnormal conduction. Limb or other anatomic abnormalities were also not visualized on prenatal scans. A postnatal diagnosis of Holt-Oram Syndrome was made. In the setting of isolated right atrial enlargement, we suggest a comprehensive sonographic search for upper limb abnormalities as well as genetic evaluation.

An electrocardiographic score to predict pulmonary hypertension in children with atrial septal defect.

BACKGROUND: In limited resource settings, identification of factors that predict the occurrence of pulmonary hypertension(PH) in children with atrial septal defect(ASD) is important to decide which patients should be prioritized for defect closure to prevent complication. Echocardiography and cardiac catheterization are not widely available in such settings. No scoring system has been proposed to predict PH among children with ASD. We aimed to develop a PH prediction score using electrocardiography parameters for children with ASD in Indonesia. METHODS: A cross-sectional study reviewing medical record including ECG record was conducted among all children with newly diagnosed isolated ASD admitted to Dr Sardjito Hospital in Yogyakarta, Indonesia during 2016-2018. Diagnosis of ASD and PH was confirmed through echocardiography and/or cardiac catheterization. Spiegelhalter Knill-Jones approach was used to develop PH prediction score. Accuracy of prediction score was performed using a receiver operating characteristic (ROC) curve. RESULTS: Of 144 children, 50(34.7%) had PH. Predictors of pulmonary hypertension were QRS axis ≥120°, P wave ≥ 3 mm at lead II, R without S at V1, Q wave at V1, right bundle branch block (RBBB), R wave at V1, V2 or aVR > normal limit and S wave at V6 or lead I > normal limit. ROC curve from prediction scores yielded an area under the curve (AUC) 0.908(95% CI 0.85-0.96). Using the cut-off value 3.5, this PH prediction score had sensitivity of 76%(61.8-86.9), specificity 96.8%(91.0-99.3), positive predictive value 92.7%(80.5-97.5), negative predictive value 88.4%(82.2-92.6), and positive likelihood ratio 23.8(7.7-73.3). CONCLUSIONS: A presence of PH in children with ASD can be predicted by the simple electrocardiographic score including QRS axis ≥120°, P wave ≥3 mm at lead II, R without S at V1, Q wave at V1, RBBB, R wave at V1, V2 or aVR > normal limit and S wave at V6 or lead I > normal limit. A total score ≥ 3.5 shows a moderate sensitivity and high specificity to predict PH among children with ASD.

Atrial septal defect patients have an elevated risk for infective endocarditis.

Background. It has been unclear whether simple atrial septal defect (ASD) is an independent risk factor for infective endocarditis (IE). This study aimed to untangle the risk of endocarditis in a large nationwide cohort. Methods. We acquired data from the Finnish hospital discharge register on all individuals with ASD diagnosis from 1969 to 2019. Patients with complex congenital cardiac abnormalities were ruled out. Five individualized controls from the general population were matched to the ASD patient's birth year, sex, and residence at the index date. All the patients with ICD-8, -9, or -10 diagnosis codes for IE were gathered from the hospital discharge registry. Results. Altogether, 8322 patients with ASD and 39,237 individualized controls were enrolled in the study. Median follow-up was 21.6 years (IQR 11.8-36.9) from the first hospital contact. In total, 24 (16 male) cases of infective endocarditis among ASD patients and 10 (8 male) cases among controls were diagnosed during the follow-up. The incidence of endocarditis was 0.11 per 1000 person-years in the patients with ASD and 0.011 per 1000 person-years in the controls. The adjusted risk ratio for endocarditis was 13.51 (95% CI: 6.20-29.46) in patients with ASD compared to the control cohort. Patients with ASD and endocarditis had higher long-term mortality than individualized control patients (MRR 2.25, 95% CI: 1.23-4.11). Conclusions. The incidence of IE in patients with ASD was higher than in the general population. Mortality associated with IE was higher in patients with ASD compared to controls.

Caroli syndrome associated with atrial septal defect and polydactyly: a case report.

INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes. CASE PRESENTATION: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved. CONCLUSION: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.

Noninvasive right ventricular work in patients with atrial septal defects: a proof-of-concept study.

BACKGROUND: Noninvasive right ventricular (RV) myocardial work (RVMW) determined by echocardiography is a novel indicator used to estimate RV systolic function. To date, the feasibility of using RVMW has not been verified in assessing RV function in patients with atrial septal defect (ASD). METHODS: Noninvasive RVMW was analysed in 29 ASD patients (median age, 49 years; 21% male) and 29 age- and sex-matched individuals without cardiovascular disease. The ASD patients underwent echocardiography and right heart catheterization (RHC) within 24 h. RESULTS: The RV global work index (RVGWI), RV global constructive work (RVGCW), and RV global wasted work (RVGWW) were significantly higher in the ASD patients than in the controls, while there was no significant difference in RV global work efficiency (RVGWE). RV global longitudinal strain (RV GLS), RVGWI, RVGCW, and RVGWW demonstrated significant correlations with RHC-derived stroke volume (SV) and SV index. The RVGWI (area under receiver operating characteristic curve [AUC] = 0.895), RVGCW (AUC = 0.922), and RVGWW (AUC = 0.870) could be considered good predictors of ASD and were superior to RV GLS (AUC = 0.656). CONCLUSION: The RVGWI, RVGCW, and RVGWW could be used to assess RV systolic function and are correlated with RHC-derived SV and SV index in patients with ASD.

Massive Pelvic Hematoma After Atrial Septal Defect Closure Via Femoral Vein Cannulation.

We report a rare case of pelvic hematoma caused by iatrogenic external iliac artery hemorrhage following transfemoral venipuncture for atrial septal defect closure. By means of urgent femoral arteriography, bleeding in the branches of the external iliac artery was confirmed and occlusion of the bleeding branches was performed, thus avoiding the need for surgical laparotomy. The patient recovered well, and the hematoma significantly was reduced 2 months after surgery.

Coração em Criss-Cross: um relato de caso / Criss-Cross Heart: a case report

Coração em criss-cross (ou coração entrecruzado) foi descrito pela primeira vez em 1974. Trata-se de uma malformação cardíaca congênita, rara, ocorrendo 8 casos a cada 1.000.000 de crianças, e representando somente 0,1% das malformações congênitas. Os métodos diagnósticos de escolha são o ecocardiograma transtorácico, a ressonância magnética cardíaca (RMC), a angiotomografia (TC) e, eventualmente, o cateterismo cardíaco. Neste relato, descreve-se o caso de um recém-nascido com coração em criss-cross somado à dupla via de saída do ventrículo direito (VD), com vasos mal posicionados, além de comunicação interatrial (CIA), comunicação interventricular (CIV), displasia de valva tricúspide e veia cava superior esquerda persistente. Não se sabe a etiologia exata dessa malformação, mas parece ocorrer pela rotação dos ventrículos em seu eixo longitudinal, não acompanhada das rotações atrial e das valvas atrioventriculares (AV). Esse movimento produz uma alteração das vias de entrada dos ventrículos, determinando que o VD se posicione em plano superior e o esquerdo em plano inferior. Apesar de ainda não se saber a exata causa dessa anomalia, acredita-se que uma alteração genética possa estar levando a esses casos: a mutação do gene Cx43. O diagnóstico do caso em questão foi dado pela ecocardiografia transtorácica e da TC de aorta e artérias pulmonares, que mostraram, além do criss-cross, outras alterações, como dupla via de saída do VD, CIA e CIV amplas.(AU)

Criss-cross heart was first described in 1974. It is a rare congenital heart malformation that occurs in 8 cases per 1,000,000 children, and represents only 0.1% of congenital malformations. The diagnostic methods of choice are transthoracic echocardiography, cardiac magnetic resonance (CMR), computed tomography angiography (CT) and, sometimes, cardiac catheterization. This report describes the case of a newborn with a criss-cross heart in addition to double-outlet right ventricle (RV), with poorly positioned vessels, in addition to atrial septal defect (ASD), interventricular septal defect, tricuspid valve dysplasia and persistent left superior vena cava. The exact etiology of this malformation is not known, but it seems to occur due to rotation of the ventricles in their longitudinal axis, not accompanied by rotation of the atrial and atrioventricular (AV) valves. This movement produces abnormal ventricular inlets, determining that the RV be positioned on a superior plane and the left ventricle on an inferior plane. Although the exact cause of this anomaly is still unknown, it is believed that a genetic abnormality may be leading to these cases: mutation of the Cx43 gene. Diagnosis of the case concerned was given by transthoracic echocardiography and computed CT of the aorta and pulmonary arteries, which showed, in addition to the criss-cross heart, other abnormalities, such as double-outlet RV, large ASD and ventricular septal defect (VSD).(AU)