Disharmonious Patterns of Heterotaxy and Isomerism

Yim, Deane; Nagata, Hazumu; Lam, Christopher Z.; Grosse-Wortmann, Lars; Seed, Mike; Jaeggi, Edgar; Yoo, Shi Joon

doi:10.1161/circimaging.117.006917

Cited by 60 publications

(31 citation statements)

References 21 publications

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“…The reliable visualization of intracardiac and vascular anatomy, large field of view, and 3D imaging capabilities all make CMR well-suited for the diagnosis of complex cardiovascular anatomic arrangements, such as those seen in more severe forms of heterotaxy syndrome [ 79 , 80 ]. CMR is a non-invasive alternative to invasive cardiac catheterization and often provides a more comprehensive evaluation than echocardiography.…”

Section: Congenital Heart Diseasementioning

confidence: 99%

SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

Leiner

Bogaert

Friedrich

et al. 2020

Journal of Cardiovascular Magnetic Resonance

224

110

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The Society for Cardiovascular Magnetic Resonance (SCMR) last published its comprehensive expert panel report of clinical indications for CMR in 2004. This new Consensus Panel report brings those indications up to date for 2020 and includes the very substantial increase in scanning techniques, clinical applicability and adoption of CMR worldwide. We have used a nearly identical grading system for indications as in 2004 to ensure comparability with the previous report but have added the presence of randomized controlled trials as evidence for level 1 indications. In addition to the text, tables of the consensus indication levels are included for rapid assimilation and illustrative figures of some key techniques are provided.

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Section: Congenital Heart Diseasementioning

confidence: 99%

SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

Leiner

Bogaert

Friedrich

et al. 2020

Journal of Cardiovascular Magnetic Resonance

224

110

View full text Add to dashboard Cite

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“…While the existing classification classifies situs ambiguous either with respect to the presence of the spleen or with respect to the atrium, these are in reality only associations [4]. Each case can have virtually any possible combination of abnormalities, making each case unique [5].…”

Section: Discussionmentioning

confidence: 99%

Heterotaxy Syndrome: Discordant Growth

Yadav¹,

Ajmera²,

Krishnamurthy³

et al. 2021

Cureus

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Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins. The echocardiography and electrocardiogram too were consistent with atrial septal defect and right ventricular strain pattern.The reasons for this highly variable pattern are rooted in the genetically complicated process of lateralization with a strong link to the copy number variations. Due to the variable patterns, it is more efficient to report all the findings utilizing a step-by-step process of commenting on each and every individual organ, instead of classifying them under different categories based on atrial isomerism. This is important as any other way of classification predisposes to a certain bias.

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“…[14] However, an exception to these general hallmarks is not infrequent as the features of classic isomerism were found breached in >20% of cases. [8]…”

Section: Discussionmentioning

confidence: 99%

“…Discordance between atrial appendage arrangement, splenic status, and bronchopulmonary branching was identified in a fair number of patients of heterotaxy postnatally. [8] Therefore, in vivo , atrial situs determination is mainly based on the general pattern of the associated cardiovascular and noncardiovascular findings than on the actual evaluation of the atrial morphology. [8] Interrupted IVC with azygous continuation into the SVC is a specific prenatal sonographic marker of LAI and was seen in 89.2%[5] to 100%[10] cases, while the juxtaposition of the aorta and the IVC is the main diagnostic feature of RAI in utero and was present in 81.5% fetuses.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Agarwal

Agarwal²

2019

Indian Journal of Radiology and Imaging

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We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA). Although LAI is usually associated with complex cardiac and extracardiac anomalies, the association of LAI and right atrial appendage aneurysm (RAAA) is exceptional. Congenital RAAA itself is an idiopathic, very rare cardiac anomaly characterized by the enlargement of the appendage in the absence of any other cardiac or extra-cardiac defect. The prognosis of the heterotaxy is poor with associated major cardiac malformations and even cases with minor cardiac anomalies are at risk postnatally for complications like biliary atresia, intestinal rotational abnormalities, and immune disorders. In this case, the prenatal diagnosis of the isomerism was mainly based on the abnormalities of caval veins. Although no typical complex cardiac anomaly was present, the HS was associated with biliary atresia, polysplenia, and malrotation of the gut. Associated RAAA further imposed an additional risk of complications such as tachyarrhythmias, thromboembolic events, and aneurysmal rupture.

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Disharmonious Patterns of Heterotaxy and Isomerism

Cited by 60 publications

References 21 publications

SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

Heterotaxy Syndrome: Discordant Growth

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

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