TARP syndrome associated with renal malformation and optic nerve atrophy

Manotas, Hernán; Payán‐Gómez, César; Roa, Maria Fernanda; Piñeros, Juan Gabriel

doi:10.1136/bcr-2020-240601

Cited by 3 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another peculiar thing about our case was the coexistence of the persistent left SVC (PLSVC) with polycystic kidney disease. Careful literature review regarding the occurrence of renal anomalies with persistent left SVC revealed multiple cases of horseshoe kidney [12,13], unilateral absent kidney [14], and crossed fused ectopic kidney [15]. Co-occurrence of multicystic dysplastic kidney with PLSVC was reported four times: a case of familial 22q11.2 deletion syndrome [16], a case of complete trisomy 9 [17], a case of 17q12 deletion [18], and a case of polyalanine expansion mutation of ZIC3 gene [19].…”

Section: Discussionmentioning

confidence: 99%

Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance

Samara¹,

Alzoubi²,

Gharaibeh³

et al. 2022

Cureus

View full text Add to dashboard Cite

Persistent left superior vena cava (PLSVC) is the most common venous anomaly of the thorax that usually coexists with the right superior vena cava. However, in a minority of cases, there is only a PLSVC without a right superior vena cava which is called an isolated PLSVC. There are some reported anomalies that can cooccur with PLSVC; yet, none have reported an association with autosomal dominant polycystic kidney disease (ADPKD). In this case report, we describe a 41-year-old man with end-stage renal disease from ADPKD who underwent central venous catheterization (permacath) to initiate hemodialysis. Upon catheterization, a complete right internal jugular vein septum (bicuspid valve) was found, along with an isolated PLSVC that drained directly in the coronary sinus. We demonstrate the multiple challenges encountered during the catheterization procedure and we illustrate the anomaly with detailed images and supplementary videos. Furthermore, we discuss the coexistence of PLSVC with renal anomalies in the context of previous literature. To conclude, interventional radiologists should keep the possibility of PLSVC in mind, especially when difficulties are encountered during catheterization where proper characterization of the PLSVC type and associated anomalies is crucial for tailoring the best management approach. Moreover, an association between venous anomalies including left superior vena cava and renal anomalies may co-exist, and further studies are needed to explore this possible association.

show abstract

Section: Discussionmentioning

confidence: 99%

Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance

Samara¹,

Alzoubi²,

Gharaibeh³

et al. 2022

Cureus

View full text Add to dashboard Cite

show abstract

“…30 where caused by mutations in the RBM10 gene. 35 Several cases reported that, the patient had physical findings in common but more patients are identified through genetic testing. The TARP syndrome acronym was widened into more complex cardiac lesions, distal limb defect in combine with TEV, disfunction of nervous system and renal abnormalities.…”

Section: Vacterl Associated Anomaliesmentioning

confidence: 99%

Talipes Equinovarus (TEV) and VACTREL Associated Anomalies: Narrative Literature Review

2022

View full text Add to dashboard Cite

Clubfoot or known as Talipes Equinovarus (TEV), is a common anomaly in world population of newborn. This condition was reported in many studies as isolated anomaly but may come with other associated congenital anomalies. This review aims to further discuss the classification of TEV, its etiopathogenesis and how to diagnosis with all kind of VACTERL associated anomaly together with TEV. Many studies show a range of incidence between 1.1-4.5 per 1000 live birth per year and there is a chance of its condition followed by multiple congenital anomalies. Even though, this anomaly was an idiopathic condition, but still there is multifactorial etiology for its in which revealed through many studies also. Nevertheless, the orthopedic management of TEV with or without other congenital conditions still continue to develop to make a better improvement for the patients.

show abstract

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

et al. 2023

View full text Add to dashboard Cite

TARP syndrome associated with renal malformation and optic nerve atrophy

Cited by 3 publications

References 16 publications

Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance

Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance

Talipes Equinovarus (TEV) and VACTREL Associated Anomalies: Narrative Literature Review

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

Contact Info

Product

Resources

About