Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold.

A case of right aortic arch type II combined with Kommerell's diverticulum and left innominate vein beneath the aortic arch.

The combination of the right aortic arch and aberrant left subclavian artery (ALSA) with Kommerell's diverticulum (KD) is rare to coexist with the left innominate vein (LINV) beneath the aortic arch. It escalates the surgical risk undoubtedly and increases the difficulty of clinical procedures. We report one case diagnosed by Ultrasound and Computed Tomography Angiography (CTA).

Giant aortic aneurysm repair in a child due to arterial tortuosity syndrome.

Arterial tortuosity syndrome is an extremely rare hereditary connective tissue disorder. We present a case of an incidentally diagnosed aneurysm of the aortic root and the ascending aorta caused by arterial tortuosity syndrome, which was confirmed genetically. The aneurysm was repaired surgically. One year after the procedure, there was no further dilation of the aorta or formation of new aneurysms.

Dysplastic aberrant left subclavian artery originating from a thoracic intersegmental artery associated with a right aortic arch.

PURPOSE: A right aortic arch (RAA) is a rare vascular anomaly that often coexists with an aberrant left subclavian artery (ALSA). Due to the rarity of RAA, the development of an ALSA is not well understood. METHOD: We describe a case in which a 58-year-old man who was scheduled to undergo posterior decompression and fusion surgery for thoracic ossification of the posterior longitudinal ligament from Th1 to Th3 was found to have a RAA and an ALSA. RESULTS: Preoperative computed tomography angiography demonstrated a RAA and an ALSA. The ALSA was extremely tortuous and ran in the paraspinal muscles behind the thoracic laminae, which meant it was in the surgical field. The ALSA arose from the descending aorta and bifurcated into the left segmental arteries of Th1 and Th2, and also bifurcated into the left vertebral artery, which had a normal subsequent course. The dysplastic ALSA was considered to have developed from the thoracic intersegmental artery. Based on preoperative examination findings, we performed spinal surgery without vessel injury. CONCLUSION: We report a rare case of a dysplastic ALSA that developed from the thoracic intersegmental artery with a RAA. The knowledge of this anomaly provides safety in spinal surgery of the cervicothoracic junction.

Characterization and surgical management of aberrant subclavian arteries.

OBJECTIVE: Aberrant subclavian arteries (aSCAs), with or without aortic pathology, are uncommon. The purpose of the present study was to review our experience with the surgical management of aSCA. METHODS: We performed a retrospective review of patients who had undergone surgery for an aSCA between 1996 and 2020. Symptomatic and asymptomatic patients were included. The primary end points were ≤30-day and late mortality. The secondary end points were ≤30-day complications, graft patency, and reinterventions. RESULTS: A total of 46 symptomatic and 3 asymptomatic patients with aSCA had undergone surgery (31 females [62%]; median age, 45 years). An aberrant right subclavian artery was present in 38 (78%) and an aberrant left subclavian artery in 11 patients (22%). Of the 49 patients, 41 (84%) had had a Kommerell diverticulum (KD) and 11 (22%) had had a concomitant distal arch or proximal descending thoracic aortic aneurysm. Symptoms included dysphagia (56%), dyspnea (27%), odynophagia (20%), and upper extremity exertional fatigue (16%). Five patients (10%) had required emergency surgery. The aSCA had been treated by transposition in 32, a carotid to subclavian bypass in 11, and an ascending aorta to subclavian bypass in 6. The KD was treated by resection and oversewing in 19 patients (39%). Fifteen patients (31%) had required distal arch or proximal descending thoracic aortic replacement for concomitant aortic disease and/or KD treatment. Thoracic endovascular aortic repair was used to exclude the KD in six patients (12%). Seven patients (14%) had undergone only bypass or transposition. The 30-day complications included one death from pulseless electrical activity arrest secondary to massive pulmonary embolism. The 30-day major complications (14%) included acute respiratory failure in three, early mortality in one, stroke in one, non-ST-elevation myocardial infarction in one, and temporary dialysis in one patient. The other complications included chylothorax/lymphocele (n = 5; 10%), acute kidney injury (n = 2; 4%), pneumonia (n = 2; 4%), wound infection (n = 2; 4%), atrial fibrillation (n = 2; 4%), Horner syndrome (n = 2; 4%), lower extremity acute limb ischemia (n = 1; 2%), and left recurrent laryngeal nerve injury (n = 1; 2%). At a median follow-up of 53 months (range, 1-230 months), 40 patients (82%) had had complete symptom relief and 9 (18%) had experienced improvement. Six patients had died at a median of 157 months; the deaths were not procedure or aortic related. The primary patency was 98%. Reintervention at ≤30 days had been required for two patients (4%) for ligation of lymphatic vessels and bilateral lower extremity fasciotomy after proximal descending thoracic aorta replacement. One patient had required late explantation of an infected and occluded carotid to subclavian bypass graft, which was treated by cryopreserved allograft replacement. CONCLUSIONS: Surgical treatment of the aSCA can be accomplished with low major morbidity and mortality with excellent primary patency and symptom relief.

Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.

Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu-Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.

Oxidative Mechanisms and Cardiovascular Abnormalities of Cirrhosis and Portal Hypertension.

In patients with portal hypertension, there are many complications including cardiovascular abnormalities, hepatorenal syndrome, ascites, variceal bleeding, and hepatic encephalopathy. The underlying mechanisms are not yet completely clarified. It is well known that portal hypertension causes mesenteric congestion which produces reactive oxygen species (ROS). ROS has been associated with intestinal mucosal injury, increased intestinal permeability, enhanced gut bacterial overgrowth, and translocation; all these changes result in increased endotoxin and inflammation. Portal hypertension also results in the development of collateral circulation and reduces liver mass resulting in an overall increase in endotoxin/bacteria bypassing detoxication and immune clearance in the liver. Endotoxemia can in turn aggravate oxidative stress and inflammation, leading to a cycle of gut barrier dysfunction → endotoxemia → organ injury. The phenotype of cardiovascular abnormalities includes hyperdynamic circulation and cirrhotic cardiomyopathy. Oxidative stress is often accompanied by inflammation; thus, blocking oxidative stress can minimize the systemic inflammatory response and alleviate the severity of cardiovascular diseases. The present review aims to elucidate the role of oxidative stress in cirrhosis-associated cardiovascular abnormalities and discusses possible therapeutic effects of antioxidants on cardiovascular complications of cirrhosis including hyperdynamic circulation, cirrhotic cardiomyopathy, and hepatorenal syndrome.

Arteria lusoria with patent foramen ovale: clinical and embryological significance with literature review.

A 73-year-old female donated cadaver had an unusual origin of the right subclavian artery (RSA), which is usually known as 'Arteria lusoria' (AL) or "Aberrant Right Subclavian Artery" (ARSA). This artery originated as the fourth and most extreme left branch from the arch of the aorta (AOA), distal to the origin of the left subclavian artery (LSA), and traversed obliquely upwards, towards the right side posterior to the oesophagus, heading for the thoracic inlet. The brachiocephalic trunk (BCT) was absent. The right common carotid (RCCA), left common carotid (LCCA), LSA and ARSA were four branches that originated from the aortic arch and ran from right to left. The course and distribution of these branches were normal. On opening the right atrium, a patent foramen ovale (PFO) was observed in the upper part of the interatrial septum. As far as we know, this is the first cadaveric case report of arteria lusoria with the presence of an atrial septal defect in the form of a PFO. Early diagnosis of aortic arch abnormalities using diagnostic interventions is beneficial for identifying risk factors after invasive procedures.

[Dysphagia lusoria treated by surgery]. / «Dysphagia lusoria¼ traitée chirurgicalement.

Aberrant right subclavian artery, also called arteria lusoria, is the most common congenital anomaly of the aortic arch (prevalence 0,5-1.8 %). Patients with trisomy 21 have a higher prevalence (35 %). It takes its origin from the aortic arch after the three others supra-aortic trunks. It may be associated with other cardiovascular anomalies. In more than 80 % of cases, the aberrant artery is positioned behind the oesophagus. It is often asymptomatic. Sometimes it is associated with symptoms after the age of 40 years old, more often among women: dysphagia (dysphagia lusoria), dyspnoea or cough. Diagnosis is made by computed tomography or magnetic resonance imaging. When it is symptomatic, a barium contrast radiography of the oesophagus is indicated. Surgical treatment by transposition of the aberrant vessel is performed only for symptomatic patients. We report the case of a 50-year-old woman with dysphagia lusoria treated by transposition of the aberrant right subclavian artery into the right common carotid through a cervical approach.

L'artère sous-clavière droite aberrante, appelée aussi arteria lusoria, est l'anomalie congénitale de l'arc aortique la plus fréquente (prévalence 0,5-1,8 %). Les patients atteints de trisomie 21 ont une prévalence plus élevée (35 %). Elle prend son origine sur la crosse aortique après les trois autres troncs supra-aortiques. Elle peut être associée à d'autres anomalies cardiovasculaires. Dans plus de 80 % des cas, l'artère aberrante est positionnée derrière l'œsophage. Elle est souvent asymptomatique. Elle est parfois associée à des symptômes après l'âge de 40 ans, plus souvent chez les femmes : dysphagie (dysphagia lusoria), dyspnée ou toux. Le diagnostic se fait par tomodensitométrie ou résonance magnétique nucléaire. Lorsqu'elle est symptomatique, un examen radiographique avec contraste baryté de l'œsophage est indiqué. Le traitement chirurgical par transposition du vaisseau aberrant n'est réalisé que pour les patients symptomatiques. Nous rapportons le cas d'une patiente de 50 ans souffrant de dysphagia lusoria traitée par transposition de l'artère sous-clavière droite aberrante dans la carotide primitive droite par abord cervical.

[Anatomical Repair of Total Arch Replacement for Stanford Type B Subacute Aortic Dissection with Aberrant Right Subclavian Artery:Report of a Case].

A 45-year-old man complaining of chest and back pain due to acute aortic dissection was referred to our department. A contrast enhanced computed tomography( CT) scan showed Stanford type B aortic dissection with Kommerell diverticulum and aberrant right subclavian artery. The patient underwent antihypertensive treatment for one month. Despite the successful treatment, CT scan revealed a 5 mm false lumen dilatation in this period. We decided to close the primary entry. The operation was performed through median sternotomy;after establishing cardio-pulmonary bypass, the ostium of the aberrant right subclavian artery( ARSA) was sutured closed and anastomosed the ARSA and right common carotid artery. Total arch replacement was performed using frozen elephant trunk technique. His postoperative course was uneventful.

Alterations of arterial morphology in patients with aberrant subclavian artery and type B dissection and its association with dissection.

OBJECTIVE: The arterial morphology in patients with aberrant subclavian artery (ASA) and its association with type B aortic dissection are important for treatment and prevention. In the present study, we examined the arterial morphology of ASA patients with type B dissection and evaluated its association with type B dissection in vivo. METHODS: Patients with aortic dissection who had undergone computed tomography angiography were screened for the presence of ASA and type B dissection from January 2011 to May 2021. The angles of ascending aorta, aortic arch, and aortic deviation and the diameters of the ascending aorta, aortic arch, ASA ostium, and middle ASA segment were measured on the computed tomography angiography scans of the ASA patients with type B dissection (group 1; n = 16), clinically matched counterparts without type B dissection (group 2; n = 32), and patients with clinically matched type B dissection without ASA (group 3, n = 32). The correlation between ASA morphology and type B dissection was analyzed using variance analysis or the Wallis H test. RESULTS: Compared with group 2, group 1 had a sharper ascending aortic angle (131.5° ± 13.7° vs 148.1° ± 7.8°; P = .001), a larger aortic deviation angle in plane 2 (28.2° ± 6.0° vs 22.1° ±7.2°; P = .005) and plane 3 (26.4° ±7.3° vs 21.8° ± 6.3°; P = .028). Similarly, group 1 had a greater diameter in the ascending aorta and aortic arch and the ostium and middle of the ASA (38.3 ± 4.1 mm vs 33.6 ± 4.5 mm [P = .001]; 34.0 ± 9.3 mm vs 26.2 ± 2.9 mm [P = .004]; 20.3 ± 9.3 mm vs 14.0 ± 3.2 mm [P = .018]; 10.8 ± 2.3 mm vs 9.0 ± 1.5 mm [P = .002], respectively), without a significant difference in the aortic arch angle. Compared with group 3, group 1 had a sharper ascending aortic angle (131.5° ± 13.7° vs 142.5° ± 11.7°; P = .026) and smaller aortic deviation angle in plane 1 (21.7° ± 6.2° vs 28.9° ± 6.2°; P = .04) and plane 3 (26.4° ± 7.3° vs 21.8° ± 6.3°; P = .007), although with no significant differences in the aortic arch angle, aortic deviation angle in plane 2, and ascending aortic diameter. CONCLUSIONS: The diameters of the ostium and middle segment of the ASA and ascending aorta and the angles of the ascending aorta and aortic deviation are potential risk factors for type B dissection in patients with ASA, which could provide new insights into the mechanism of type B dissection in patients with ASA.

Contemporary management and natural history of aberrant right subclavian artery.

OBJECTIVE: An aberrant right subclavian artery (ARSA) is the most common congenital anomaly of the aortic arch. A paucity of reported studies is available regarding the treatment of these patients. The purpose of the present study was to evaluate the contemporary management strategies and natural history of ARSA in these patients. METHODS: A single-center retrospective review of patients with a diagnosis of ARSA from 2009 to 2019 was performed. Computed tomography scans were analyzed, and the aortic and ARSA diameters were measured at 10 different segments. The demographic data, comorbidities, and operative interventions were collected. The patients were categorized into those who had undergone intervention and those who had undergone expectant management. Linear mixed effect models were used to estimate the annual ARSA diameter changes. RESULTS: A total of 30 patients with ARSA were identified, 17 (57%) of whom were women. The average age for the cohort was 54.5 ± 14.6 years. Of the 30 patients, 20 (67%) had undergone operative repair at presentation and 10 (33%) were initially observed. The most common presenting symptom was dysphagia (30%). Of the 10 patients who had been initially treated expectantly, 4 had subsequently required intervention. Of the 24 operative interventions, 13 (54%) were hybrid procedures involving right carotid-subclavian bypass or transposition and thoracic endovascular aortic repair. The mean diameter of ARSA at its origin was 20.4 ± 5.7 mm, and the mean cross-sectional aortic diameter at the level of the ARSA was 31.8 ± 8.5 mm for the entire cohort. For the patients who had initially been observed and had subsequently required intervention, the largest change in the ARSA cross-sectional diameter was observed 1 cm distally to the vessel ostium at a rate of 3.05 mm annually (95% confidence interval, 1.54-4.56; P < .001). No statistically significant changes in the annual growth rate of the aortic segments were observed in the entire cohort or for those patients who had undergone intervention (P > .05). CONCLUSIONS: The decision to intervene on an ARSA should be individualized by the presence of symptoms (eg, dysphagia lusoria) or complications (eg, dissection, concomitant aortic aneurysmal disease, enlarging Kommerell diverticulum). Asymptomatic patients with nonaneurysmal ARSA might not require any intervention and can be safely observed. Measurement of the cross-sectional ARSA diameter 1 cm distally to the ostium of the vessel might aid in the surveillance of vessel diameter changes. Additional studies are required to determine the specific size criteria as an indication for operative repair of asymptomatic Kommerell diverticulum.

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in our service between 2009 and 2019, to determine presence of vascular abnormalities, age at detection, associated symptoms and management. A literature review of the range of vascular abnormalities associated with NF1 was also undertaken. 1234 patients had magnetic resonance imaging cranial imaging. The frequency of vascular abnormalities associated with NF1 patients who had cranial imaging in this cohort was 3.5% (n = 43), the majority (n = 26, 60%) were symptomatic. Stroke and cerebral arterial stenosis were the commonest vascular complication. Eight patients (0.65%) had more than one type of vascular abnormality. One death due to a vascular complication was identified and significant morbidity resulted from other complications. We conclude that clinicians caring for patients with NF1 need to be cognizant that rapid onset of new neurological symptoms or signs may be the result of a vascular complication of NF1 and require urgent investigation and management, ideally within specialist teams who have experience of managing vascular complications of NF1.

Endovascular Treatment with Arch Vessel Reconstruction on Patients with Kommerell Diverticulum and Aberrant Left Subclavian Artery.

No guidelines for the treatment of Kommerell diverticulum (KD) have been established. Endovascular treatment with arch vessel reconstruction of 4 patients with a right-sided aortic arch and aberrant left subclavian artery are presented herein. A 39-year-old woman and 47-year-old man experienced dyspnea and retrosternal pain. The first patient concomitantly underwent left subclavian transposition and thoracic endovascular aortic repair (TEVAR). The second patient underwent bilateral carotid-subclavian bypass grafting, followed by TEVAR and KD embolization. The 2 other patients were 72- and 75-year old men who presented with KD and type B dissection, in which these conditions were characterized by acute thoracic pain in the former patient and were noted on incidental body scan for prostatic adenocarcinoma in the latter. The third patient underwent carotid-subclavian bypass grafting, followed by TEVAR and subclavian plugs, and in the fourth patient, regular follow-up with antihypertensive therapy was scheduled. After a mean follow-up period of 12 months, all patients were alive.

Malnutrition is Associated with Increased Morbidity and Death in Dialysis Patients Undergoing Endovascular Therapy for Peripheral Artery Disease.

OBJECTIVE: Revascularisation for peripheral artery disease (PAD) is increasingly common in dialysis patients. Patients with PAD who have undergone revascularisation are at high risk of subsequent complications. Malnutrition is an important modifiable risk factor for dialysis patients, yet few data exist on the prognostic impact of malnutrition on post-procedure long term outcomes. The objective was to assess the prevalence and prognostic association of malnutrition using the Controlling Nutritional Status (CONUT) score in a prospective cohort of dialysis patients undergoing endovascular therapy (EVT) for PAD. METHODS: A total of 395 consecutive dialysis patients undergoing endovascular revascularisation for lower extremity PAD between 2005 and 2019 were examined for the primary outcome of all cause death. Secondary outcomes included major adverse limb events (MALEs), defined as acute limb ischaemia, major amputation, and clinically driven revascularisation; and major adverse cardiovascular events (MACEs). Nutritional status was assessed by CONUT score, a screening tool for malnutrition, incorporating albumin, cholesterol, and total lymphocyte count. RESULTS: According to the CONUT score, 40.8% of patients were moderately or severely malnourished. During a median follow up of 2.2 years, 218 (55.2%) patients died; 211 (53.4%) patients had MALEs, and MACEs occurred in 135 (34.2%) patients. Compared with normal nutritional status, severe malnutrition was associated with a significantly increased risk of all cause death (adjusted hazard ration [aHR] 4.83, 95% confidence interval [CI] 2.56 - 9.12) and MALEs (aHR 2.42, 95% CI 1.23 - 4.74) but not MACEs (aHR 1.81, 95% CI 0.74 - 4.40). Similar results were observed when the CONUT score was analysed as a continuous variable. CONCLUSION: Malnutrition is common in dialysis patients with PAD requiring endovascular therapy and is strongly associated with increased death and MALEs. Clinical trials are needed to evaluate whether nutritional interventions improve outcomes for dialysis patients after peripheral revascularisation.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

BACKGROUND: Oculo-auriculo-vertebral spectrum is a heterogeneous group of genetic disorder, also known as Goldenhar Syndrome, which has several phenotypic features including craniofacial anomalies, cardiac, vertebral and central nervous system defects. Cardiovascular anomalies include ventricular septal defects, atrial septal defects, patent ductus arteriosus, Tetralogy of Fallot, double outlet right ventricle, aberrant right subclavian artery, coarctation of aorta, transposition of the great arteries, double inlet left ventricle, cor triatriatum, pulmonary artery stenosis, aortic stenosis, persistent left superior vena cava, partially or totally abnormal pulmonary venous return and bicuspid aortic valve. Persistent fifth aortic arch, also named as double lumen aortic arch, is a very rare cardivascular anomaly and usually associate other cardiac defects. CASE PRESENTATION: We present a 7 month old patient with oculo-auriculo-vertebral spectrum signs as facial asymmetry, short neck, choanal atresia, cleft palate, bilateral preauricular skin tags, bilateral hypoplastic ear lobes, epibulbar dermoid cyst, rib, vertebrae and cardiovascular anomalies. Cardiovascular anomalies detected with echocardiography and computed tomography were malalignment ventricular septal defect and double lumen aorta, known as persistent fifth aortic arch. CONCLUSION: Various cardiovascular anomalies may accompany Goldenhar Syndrome. We present a case with persistent fifth aortic arch and Oculo-auriculo-vertebral spectrum and this is a new association that was not reported before in the literature.

A rare presentation and management of thrombosis of an aberrant right subclavian artery related to thoracic outlet syndrome.

OBJECTIVES: We present a case in which a 44-year-old female smoker with a complex medical and surgical history presented with acute upper limb ischemia. METHODS: The patient was diagnosed with thoracic outlet syndrome causing symptomatic thrombosis of an aberrant right subclavian artery associated with diverticulum of Kommerell. The patient had history of extensive surgeries and radiation in the right chest with fibrotic changes, so surgical dissection in the area was associated with significant risk of nerve injury. Therefore, revascularization of the arm was performed via carotid to brachial artery bypass with reversed saphenous vein and the thoracic outlet was decompressed with segmental clavicular resection. RESULTS: Patient has been symptom free for 3 years with patent bypass. CONCLUSIONS: This case demonstrates a unique presentation of distal thrombosis of a symptomatic aberrant right subclavian artery related to thoracic outlet syndrome. The combined claviculectomy-vein bypass is a safe and efficacious surgical approach that provides durable relief.

Evaluation of aortopulmonary window using virtual dissection of multidetector computed tomography angiography data sets.

AIM: The present study sought to evaluate the morphology and associated cardiovascular anomalies in patients with aortopulmonary window on virtual dissection of multidetector computed tomography (CT) angiography data sets. MATERIAL AND METHODS: We conducted a retrospective search of our departmental database from January 2014 to September 2021 to identify patients with aortopulmonary window and relevant information was extracted from the electronic case records and from routine examination as well as virtual dissection of CT data sets. RESULTS: An aortopulmonary window was observed in 26 patients (20 males; 6 females). Based on location of the defect, a distal aortopulmonary window was the most common subtype, seen in 13/26 (50%) patients followed by a proximal, complete and intermediate subtypes seen in 7/26 (27%), 5/26 (19%) and 1/26 (4%) patients respectively. Associated ventricular septal defect was observed in 9/26 (34.6%) patients while an interrupted aortic arch was present in 5/26 (19.2%) patients. Tetralogy of Fallot was seen in 5/26 (19.2%) patients. Anomalous origin of right pulmonary artery from ascending aorta and crossed pulmonary arteries were seen in 2/26 (7.6%) patients each. An isolated aortopulmonary window without any simple/complex congenital anomaly was seen in 10/26 (38.5%) patients. CONCLUSION: Aortopulmonary window is associated with a wide gamut of cardiovascular lesions, with ventricular septal defect being the commonest associated anomaly followed by tetralogy of Fallot and interrupted aortic arch respectively. Virtual dissection of multidetector CT angiography allows detailed anatomical evaluation of aortopulmonary window, allowing a clear visualization of the defect and associated cardiovascular anomalies.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism". It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

The Value of Exome Sequencing in Thoracoamniotic Shunt for Severe Pleural Effusion with Fetal Hydrops: A Retrospective Clinical Study.

OBJECTIVE: We aimed to study the value of exome sequencing (ES) in severe pleural effusion with nonimmune hydrops fetalis (NIHF) that underwent thoracoamniotic shunt (TAS). METHODS: It was a retrospective study of NIHF that underwent TAS between 2012 and 2020 at Shanghai First Maternity and Infant Hospital. After a detailed assessment, NIHF cases with aneuploidies, infections, and structural anomalies were excluded, and TAS was offered to cases with severe pleural effusion. Quantitative fluorescence polymerase chain reaction (QF-PCR) was conducted to exclude Trisomy 21, 18, and 13 before fetal therapy, and chromosomal microarray analysis (CMA) was offered to all the cases. Before 2019, ES was retrospectively performed using stored fetal DNA extracted from prenatal samples; from 2019 onward, ES was discussed and offered before intrauterine therapies. RESULTS: A total of 18 NIHF cases underwent TAS with negative CMA and continuing pregnancy were included. Fetal hydrops was relieved in 16 cases (88.9%). The median gestational ages at intervention and at delivery were 31.2 (22.0-33.1) weeks and 34.3 (29.7-38.6) weeks, respectively. The neonatal survival rate was 72.2% (13/18), and no causative gene variants were identified from ES in any survivors. Pathogenic or likely pathogenic variants were detected in 3 out of 5 neonatal deaths. If rapid ES could have been available to guide fetal therapy, the neonatal survival rate after TAS would have increased from 72.2% to 86.7%. CONCLUSIONS: Single-gene disorders were one of the major causes of perinatal death in NIHF cases that underwent fetal therapy. Prenatal rapid ES may be of good promise in NIHF to explore precise etiology and guide fetal therapy.