Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma.

A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.

Clarifying the Anatomy of Tetralogy of Fallot with S-shaped Ascending Aorta.

We recently encountered several cases of tetralogy of Fallot with an abnormally oriented S-shaped ascending aorta. In this retrospective study, we sought to clarify morphology of this unusual under-recognized variant. Databases were reviewed to identify all patients with tetralogy of Fallot having an S-shaped ascending aorta. Computed tomographic angiography was used for the assessment of cardiac morphology. Out of the 21 patients, 18 (86%) had a right aortic arch, 2 (9%) had a left aortic arch, and the remaining patient (5%) had a double aortic arch. Patients with a right aortic arch, compared to age and sex-matched patients with a right aortic arch but normally oriented ascending aorta, had lesser aortic override (29.3 ± 14% vs 54.8 ± 13.2%; p = 0.0001) and a wider ascending aorta (25.2 ± 6.9 vs 18.0 ± 3.2 mm; p = 0.0003). The S-shaped ascending aorta was located posteriorly, with a higher sterno-aortic distance (25.5 ± 7.7 vs 9.9 ± 4.5 mm; p = 0.0001). The ascending aorta among patients with tortuosity was longer (4.12 ± 1.7 vs 3.07 ± 0.82, p = 0.03) but with similar tortuosity index (1.22 ± 0.19 vs 1.15 ± 0.17, p = 0.23). Of the cases with right aortic arch and S-shaped ascending aorta, 16 (89%) had extrinsic compression of the right pulmonary artery (p = 0.0001), while 7 (39%) had crossed pulmonary arteries (p = 0.008), with no such findings among those with normally oriented ascending aorta. Tetralogy of Fallot with an S-shaped ascending aorta is a variant with lesser aortic override and a more posteriorly located ascending aorta. Compression of the right pulmonary artery and crossed pulmonary arteries is frequent in the presence of a right-sided aortic arch. These findings have important implications for optimal diagnosis and surgical repair.

Identification and Analysis of Atrial-Bronchial-Abdominal Disharmony in Patients with Isomeric Atrial Appendages.

Ideally, the morphology of atrial appendages should solely be used to identify and differentiate patients with isomeric right and left atrial appendages. However, in clinical practice, the segregation is often indirectly based on the arrangement of thoraco-abdominal structures. The correlation between thoraco-abdominal arrangement and atrial appendages, however, is imperfect. In this study, we sought to clarify the cardiovascular malformations in patients with isomeric atrial appendages with an emphasis on atrial-thoracic-abdominal disharmony. A retrospective review of all patients who underwent cardiac CT angiography between January 2014 and June 2023 and identified to have isomeric atrial appendages was performed. Of the 366 cases (median age: 2 years [interquartile range: 11 months-7 years]), 247 (67.5%) patients had isomeric right atrial appendages while 119 (32.5%) patients had isomeric left atrial appendages. In 316 (86.3%) patients, the thoraco-abdominal arrangement was as per atrial appendage morphology while the remaining 50 (13.6%) patients had disharmonious patterns. Compared to isomeric left atrial appendages, the disharmonious pattern was more frequent with isomeric right atrial appendages (5.9% vs. 17.4%; p 0.003). Irrespective of the type of isomerism, disharmony was mostly confined to the level of the abdomen. Not all patients with isomeric atrial appendages have a harmonious thoraco-abdominal arrangement. The atrial-bronchial-abdominal disharmony is more frequent with isomeric right atrial appendages and is mostly present at the level of the abdomen. A detailed sequential segmental analysis with an independent description of each organ system is, therefore, essential for the complete evaluation of patients with isomeric atrial appendages.

An unusual case of duplicated left brachiocephalic vein with right sided aortic arch and aberrant origin of LSCA in a patient undergoing implantable cardioverter defibrillator (ICD) implantation.

BACKGROUND: Anomalous left brachiocephalic vein (ALBCV) is a rare venous anomaly. Double Left brachiocephalic vein is the rarest type of ALBCV anomaly. CASE REPORT: Here we report a case of gentleman with post myocardial infarction ventricular tachycardia who underwent ICD implantation, where we could not place the lead initially through left side. CT angiography revealed presence of a duplicated circumaortic left BCV. It's cranial limb coursing normally anterior to arch and compressed at its confluence with RBCV and the caudal limb with a subaortic course draining into the RSVC. We report this first case of double LBCV along with right sided aortic arch and aberrant origin of LSCA arising from Kommerel's diverticulum. CONCLUSION: This case highlights that interventional cardiologists should be aware of these venous anomalies for proper planning and implantation of CIED successfully via transvenous approach.

Coronary artery disease and its vascular associates in patients with chronic nonsurgical hypoparathyroidism.

OBJECTIVE: Patients with chronic hypoparathyroidism (cHypoPT) are prone to intracranial-calcification, cataract and nephrocalcinosis. In this study, we systematically investigated the possibility of increased coronary artery calcification (CAC) and coronary artery disease (CAD) in them. DESIGN: Cross-sectional. PATIENTS AND MEASUREMENTS: Ninety-four nonsurgical cHypoPT (M:F = 50:44; age = 45 ± 15 years) with 18.6 ± 9.3 years of illness were assessed. Those with dyspnoea, angina, syncope, abnormal electrocardiogram, echocardiography or significant CAC underwent coronary angiography or myocardial-perfusion-stress imaging. Their lipid parameters and high-sensitivity C-reactive protein (hsCRP) were compared with age-matched healthy controls (Group A, n = 101). The prevalence of CAC in cHypoPT was compared with that of subjects referred from cardiology-clinics (Group B, n = 148, age = 52 ± 11 years). RESULTS: One of 94 cHypoPT had known CAD. On screening, 17 cHypoPT required evaluation for CAD. Two of 17 had severe coronary stenosis, and 12 showed subclinical CAD. CAC and aortic-valve calcification occurred in 21.5% and 11.8%. Clinical and subclinical CAD, CAC and aortic-valve calcification in cHypoPT ≥50 years of age was 8.1%, 27.0%, 52.8% and 27.8%, respectively. Frequency of age-adjusted CAC was comparable between cHypoPT and control Group B (30.2% vs. 30.7%, p = .93). Elevated hsCRP was higher in cHypoPT than in controls A (52% vs. 32%, p < .01). Factors associated with CAD in cHypoPT were CAC and hypertension. However, CAD and CAC showed no association with long-term calcemic or phosphatemic control and intracranial-calcification in cHypoPT. CONCLUSIONS: Clinical and subclinical CAD was observed in 3.2% and 12.8% of cHypoPT patients. The increased prevalence of CAD, CAC and aortic-valve calcification in cHypoPT above 50 years of age suggested their careful cardiac evaluation during follow-up.

The so-called "one-and-a-half" ventricular repair: where are we after 40 years?

OBJECTIVES: The indications, timing, and results of the so-called "one-and-a-half ventricle repair", as a surgical alternative to the creation of the Fontan circulation, or high-risk biventricular repair, currently remain nebulous. We aimed to clarify these issues. METHODS: We reviewed a total of 201 investigations, assessing selection of candidates, the need for atrial septal fenestration, the fate of an unligated azygos vein and free pulmonary regurgitation, the concerns regarding reverse pulsatile flow in the superior caval vein, the growth potential and function of the subpulmonary ventricle, and the role of the superior cavopulmonary connections as an interstage procedure prior to biventricular repair, or as a salvage procedure. We also assessed subsequent eligibility for conversion to biventricular repair and long-term functional results. RESULTS: Reported operative mortalities ranged from 3% to 20%, depending on the era of surgical repair with 7% risk of complications due to a pulsatile superior caval vein, up to one-third incidence of supraventricular arrhythmias, and a small risk of anastomotic takedown of the superior cavopulmonary connection. Actuarial survival was between 80% and 90% at 10 years, with two-thirds of patients in good shape after 20 years. We found no reported instances of plastic bronchitis, protein-losing enteropathy, or hepatic cirrhosis. CONCLUSIONS: The so-called "one-and-a-half ventricular repair", which is better described as production of one-and-a-half circulations can be performed as a definitive palliative procedure with an acceptable risk similar to that of conversion to the Fontan circulation. The operation reduces the surgical risk for biventricular repair and reverses the Fontan paradox.

A meta-analysis of the diagnostic performance of quiescent-interval-single-shot magnetic resonance angiography in peripheral arterial disease.

OBJECTIVES: To evaluate by meta-analysis the diagnostic accuracy of non-contrast quiescent-interval-single-shot (QISS) magnetic resonance angiography (MRA) in patients with peripheral arterial disease (PAD) using digital subtraction angiography (DSA) or contrast-enhanced magnetic resonance angiography (CE-MRA) as reference standard. METHODS: This study was performed and reported according to the Preferred Reporting Items for Systematic reviews and Meta-analysis guidelines. A systematic literature search of MEDLINE, Embase and Scopus was done for studies reporting the diagnostic accuracy of QISS in PAD published up to 31 May 2021. The pooled sensitivity, specificity and diagnostic accuracy of QISS were calculated on a per-segment basis for the entire arterial tree. RESULTS: Seventeen studies including 459 patients were found eligible for the meta-analysis. There was significant heterogeneity among studies as depicted by chi-square test (p = 0.02) and moderate heterogeneity by I2 statistic (I2: 69 [95% CI: 30-100]). The pooled sensitivity and specificity of QISS on a per-segment basis with DSA/CE-MRA as reference standard was 0.88 (95% CI: 0.85-0.91) and 0.94 (95% CI: 0.92-0.96) respectively. The area under hierarchical summary receiver-operating characteristic reflected a high accuracy of 0.96 (95% CI: 0.94-0.98). There was a low likelihood of publication bias as indicated by Deeks' funnel plot. CONCLUSIONS: The present meta-analysis has consolidated the evidence that QISS has high accuracy for identifying as well as excluding arterial stenosis/occlusions in patients with symptoms of PAD. It can thus be considered the test of choice in patients with renal failure and in "at-risk patients" including pregnant women and patients with contrast allergy. KEY POINTS: • The pooled sensitivity and specificity of QISS magnetic resonance angiography on a per-segment basis with DSA or contrast-enhanced MRA as reference standard are 88% and 94% respectively. • The diagnostic accuracy of QISS in patients with peripheral arterial disease as reflected by area under hierarchical summary receiver-operating characteristic is high (0.96 (95% CI: 0.94-0.98)). • There is moderate to significant heterogeneity among studies as depicted by I2 statistic and chi-square test.

Efficacy and Safety of Venous Sac Embolization With or Without Feeding Artery Embolization Versus Feeding Artery Embolization Alone in the Management of Pulmonary Arteriovenous Malformations: A Systematic Review and Meta-analysis.

PURPOSE: To evaluate by meta-analysis the safety and efficacy of venous sac embolization (VSE) with or without feeding artery embolization versus feeding artery embolization (FAE) alone in the management of pulmonary arteriovenous malformations (PAVMs). METHODS: This systematic review and meta-analysis was performed and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic literature search was performed in MEDLINE, Embase, and Scopus till August 31, 2021 to identify studies comparing the safety and efficacy of VSE with or without FAE versus FAE alone in PAVMs. The success of treatment was assessed by comparing the number of PAVMs with ≥70% decrease in the size of draining vein/sac between the 2 groups. The pooled odds ratio (OR) and 95% confidence interval (95% CI) were calculated using the random-effects inverse-variance model and were used to compare pooled therapeutic efficacy between the groups. RESULTS: Three studies were found eligible for the meta-analysis. The included studies had a total of 169 patients (119 females and 50 males). The total number of PAVMs was 298, and hereditary hemorrhagic telangiectasia was present in 119 patients. The success of treatment was higher with VSE as compared to FAE (OR=3.54, 95% CI=1.66-7.56). The minor complications were similar in both groups, and one major complication occurred in the FAE group. More coils were used in the VSE group. CONCLUSIONS: The present systematic review and meta-analysis has consolidated the evidence that VSE with or without FAE is more efficacious than FAE alone in the management of PAVMs without any increase in the associated risk of sac rupture or coil migration. CLINICAL IMPACT: Until high-quality data from a prospective, multicentric, randomized controlled trial becomes available, the evidence consolidated by the present systematic review and meta-analysis showing the efficacy of venous sac embolization (with or without feeding artery embolization) over feeding artery embolization alone, can be used for clinical decision-making in the management of pulmonary arterio-venous malformations.

"Ground-cherry" appearance of the pulmonary trunk: Incidentally detected sinoatrial nodal branch-to-pulmonary trunk fistula.

We present a case of a 45-year-old man with atypical chest pain who underwent coronary computed tomography angiography which incidentally revealed a conglomerate of nondilated tortuous vessels along the inferior half of the surface of the pulmonary trunk, resulting in a "ground-cherry" like ridged appearance. Tracing these vessels proximally and distally revealed it to be arising from the sinoatrial nodal branch of the right coronary artery and distally draining into the left anterolateral aspect of the pulmonary trunk.

Separate origin of all three coronary arteries from a single sinus of Valsalva.

We present a case of a 6-year-old boy with a double outlet right ventricle where the independent origin of all three coronary arteries from a single sinus of Valsalva was incidentally detected on CT angiography. The case highlights the role of CT angiography in identifying coronary arterial anomalies in the setting of complex congenital heart diseases.

Incidentally detected dual right coronary artery in patient with constrictive pericarditis.

We report a case of a 29-year-old man with constrictive pericarditis where CT angiography incidentally demonstrated a dual right coronary artery (RCA). The present case highlights the diagnostic criterion for dual RCA as well as the potential clinical implications of the anomaly.

Proximal interruption of the right pulmonary artery: A rare anomaly.

We report a case of a 21-year-old woman with cyanosis where computed tomography (CT) angiography revealed a complete absence of the mediastinal part of the right pulmonary artery with the normal intrapulmonary vascular network, receiving supply from multiple collateral vessels. The case also highlights the various differential diagnoses and the role of CT angiography in arriving at the correct diagnosis.

Juxtaposition of atrial appendages: Evaluation of cardiovascular morphology and associated anomalies on multidetector computed tomography angiography.

AIM: To evaluate the morphology and associated cardiovascular abnormalities in patients with juxtaposition of atrial appendages (JAA) on multidetector computed tomography (MDCT) angiography. MATERIALS AND METHODS: We performed the retrospective study at a tertiary referral center to identify patients diagnosed with JAA on MDCT angiography using dual-source CT scanner between January 2014 and April 2021. The various imaging abnormalities evaluated included the type of JAA, morphological and positional classification of JAA, atrial situs, cardiac position, atrioventricular and ventriculoarterial connections, great vessel relationship, and other associated cardiovascular anomalies. RESULTS: We identified 129 patients with JAA. Left-sided juxtaposition was seen in 124 (96.1%) patients while right-sided juxtaposition was seen in 5 (3.9%) patients. Among patients with left-sided juxtaposition, frequent cardiovascular associations included outflow tract malformations (100%), hypoplastic right ventricle (40.3%), tricuspid atresia (32.2%), and right-sided heart (19.4%). The most frequent outflow tract malformation was double outlet right ventricle (DORV; 60.5%) followed by transposition of great arteries (20.1%) and transposed aorta with pulmonary atresia (18.5%). In patients with right-sided juxtaposition, outflow tract malformation was seen in three (60%) patients with one (20%) patient each showing DORV, transposed aorta with pulmonary atresia, and tetralogy of Fallot, respectively. CONCLUSION: The identification of JAA on MDCT angiography suggests coexistence of various complex congenital heart diseases, especially outflow tract malformations. A meticulous search is imperative to identify this anomaly before interventional or surgical procedures to avoid complications.

Evaluation of cardiovascular morphology and associated anomalies in patients with crossed pulmonary arteries on multidetector computed tomography angiography.

AIM: The present study sought to study morphology and associated cardiovascular anomalies in patients with crossed pulmonary arteries on multidetector computed tomography (CT) angiography. MATERIALS AND METHODS: We retrospectively evaluated all CT angiography studies performed at a tertiary medical center from January 2014 to December 2021 to identify patients with crossed pulmonary arteries. The associated cardiovascular anomalies as identified on CT angiography were evaluated. RESULTS: Out of 4773 patients who had undergone CT angiography for evaluation of congenital heart diseases, we identified 24 (0.5%) patients (18 males; mean age: 7.7 years) with crossed pulmonary arteries. Tetralogy of Fallot was associated in seven (29.17%) patients, double outlet right ventricle in one (4.17%) patient, and common arterial trunk in four (16.67%) patients. An aortopulmonary window was seen in three (12.5%) patients while atrial septal defect and ventricular septal defect were seen in two (8.33%) and 16 (66.67%) patients, respectively. Aortic arch anomalies were present in 16 (66.67%) patients including interrupted aortic arch and coarctation of aorta with hypoplastic aortic arch seen in two (8.33%) patients each. A double aortic arch with an atretic left arch was seen in one (4.17%) patient. Coronary artery anomalies were seen in three (12.5%) patients. CONCLUSION: Crossed pulmonary arteries are a rare anomaly and their presence suggests the coexistence of a variety of cardiovascular anomalies, including aortic arch anomalies and outflow tract malformations. Comprehensive CT angiography-based evaluation of cardiovascular morphology is imperative in the presence of crossed pulmonary arteries to facilitate presurgical planning.

Anomalous great cardiac vein draining into juxtaposed right atrial appendage.

We present a case of a 2-year-old boy with a double outlet right ventricle and juxtaposed atrial appendages with anomalous drainage of the great cardiac vein into the aneurysmally dilated juxtaposed right atrial appendage. The case highlights the role of computed tomography (CT) angiography in depicting anomalous coronary venous anatomy and guiding therapeutic interventions involving the coronary venous approach.

Idiopathic focal fibrosing mediastinitis with unilateral pulmonary arterial and venous involvement.

We report a case of a 1-year-old girl where computed tomography (CT) angiography demonstrated presence of ill-defined heterogenous soft tissue thickening obliterating the mediastinal fat planes in right peri-hilar region and encasing the hilar right pulmonary artery and its segmental branches leading to marked narrowing with nonvisualization of the right-sided pulmonary veins. The case highlights the features of fibrosing mediastinitis as well as the role of CT angiography in the diagnosis and accurate depiction of the extent of involvement of the mediastinal vasculature and airways.

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.

Is it really a levoatrial cardinal vein?

With the advent of computed tomographic interrogation, it is increasingly frequent to find venous channels that provide direct connections between the pulmonary and systemic veins. These channels, before the introduction of three-dimensional techniques for clinical imaging, were usually found providing an "overflow" for the obstructed left atrium in settings such as hypoplastic left heart syndrome, or divided left atrium. Similar channels, however, had been described almost 100 years ago, with one accurately described as a jugulo-pulmonary vein. Nowadays, however, it is much more usual to find the channels described as levoatrial cardinal veins, even though it is recognized that they are not "levo," often not "atrial," and for sure not "cardinal." In this review, we assemble the evidence supporting the notion that they are better considered as pulmonary-to-systemic collateral channels. We emphasize their similarity, in terms of development, to the sinus venosus and coronary sinus defects.

Coronary-to-pulmonary collateral artery from a superdominant morphologically right coronary artery.

We present a case of a 16-year-old cyanotic male patient with ventricular septal defect, pulmonary atresia and discordant atrioventricular connections where computed tomography angiography demonstrated a large tortuous coronary-to-pulmonary collateral artery arising from the superdominant morphologically right coronary artery and coursing cranially to supply the pulmonary parenchyma.

Anomalous origin of one pulmonary artery from aorta: Evaluation on computed tomography angiography.

AIM: The present study sought to evaluate the morphology and associated cardiovascular anomalies in patients with anomalous origin of one pulmonary artery from aorta (AOPA) on CT angiography. MATERIALS AND METHODS: A retrospective search of the departmental database from January 2014 to September 2021 was conducted to identify patients diagnosed with AOPA on CT angiography. The subtype of AOPA, site of origin, and associated cardiovascular abnormalities were assessed. RESULTS: AOPA was identified in 27 patients (19 males, mean age: 8.8 years). Anomalous origin of the right pulmonary artery from aorta (AORPA) was observed in 17/27 (63%) patients, while anomalous origin of the left pulmonary artery (AOLPA) was seen in 10/27 (37%) patients. The proximal and distal subtypes were observed in 24/27 (88.9%) and 3/27 (11.1%) patients respectively. AOPA was associated with other cardiac anomalies in 92.6% (25/27) patients. Patent arterial duct (11/17; 64.7%) was the most frequently anomaly associated with AORPA, while tetralogy of Fallot (10/10; 100%) was the most commonly anomaly associated with AOLPA. The anomalous pulmonary artery was contralateral to the aortic arch in 23/27 (85.2%) patients. Right-sided aortic arch was observed in only 2/17 (11.8%) patients with AORPA and 8/10 (80%) patients with AOLPA. In 2/10 (20%) patients, AORPA was associated with aortopulmonary window and aortic arch anomaly. CONCLUSION: AOPA is rare and frequently associated with other cardiovascular anomalies like patent arterial duct, tetralogy of Fallot, and right-sided aortic arch. CT angiography helps in providing exact anatomical delineation and identifying associated anomalies, thus aiding preoperative planning of surgical management.