Ventricular Septal defect (VSD) as an extra renal manifestation in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Syndrome: A rare Case report

Sagar, Vankadari Venkata Sesha Satya; Acharya, Sourya; Gomase, Shantanu; Singh, Rohan Kumar; Shukla, Samarth; Kumar, Sunil; Akhil, Chitturi Venkata Sai

doi:10.54905/disssi/v26i119/ms41e2003

Cited by 4 publications

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“…Overall, we found significantly more extra-renal/cardiac malformations in our patients with both CAKUT and CHD than has been reported with either CAKUT or CHD alone ( 7 , 8 , 31 ). These findings may be related to the high rate of genetic syndromes identified in this study, with 13 of our 14 genetic diagnoses (93%) herein related to a previously identified syndrome.…”

Section: Discussionsupporting

confidence: 46%

“…Previously CAKUT and CHD have both been found as solitary anomalies or co-existing with other organ system malformations ( 3 , 4 , 7 , 8 , 27 – 31 ). Overall, 40%–60% of patients with a CAKUT or CHD have an additional extra-renal or extra-cardiac abnormality ( 7 , 8 , 27 – 30 ).…”

Section: Discussionmentioning

confidence: 99%

“…Overall, 40%–60% of patients with a CAKUT or CHD have an additional extra-renal or extra-cardiac abnormality ( 7 , 8 , 27 – 30 ). CHD and CAKUT are known to co-occur in 25%–30% of affected individuals, more than any other concurrent organ system anomalies ( 7 , 8 , 31 ). During study subject ascertainment, 23% of hospitalized CHD cases were found to also have an identifiable CAKUT, in accord with published literature ( 7 , 8 , 31 ).…”

Section: Discussionmentioning

confidence: 99%

“…CHD and CAKUT are known to co-occur in 25%–30% of affected individuals, more than any other concurrent organ system anomalies ( 7 , 8 , 31 ). During study subject ascertainment, 23% of hospitalized CHD cases were found to also have an identifiable CAKUT, in accord with published literature ( 7 , 8 , 31 ). Electronic medical record review also identified additional organ system anomalies in 28 cases (88%) with CAKUT and CHD ( Table 5 ).…”

Section: Discussionmentioning

confidence: 99%

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Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

et al. 2023

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BackgroundCongenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients also have a CAKUT and both organs arise from the lateral mesoderm, there is sparse overlap of the genes implicated in the congenital anomalies for these organ systems. We sought to determine whether patients with both CAKUT and CHD have a monogenic etiology, with the long-term goal of guiding future diagnostic work up and improving outcomes.MethodsRetrospective review of electronic medical records (EMR), identifying patients admitted to Rady Children's Hospital between January 2015 and July 2020 with both CAKUT and CHD who underwent either whole exome sequencing (WES) or whole genome sequencing (WGS). Data collected included demographics, presenting phenotype, genetic results, and mother's pregnancy history. WGS data was reanalyzed with a specific focus on the CAKUT and CHD phenotype. Genetic results were reviewed to identify causative, candidate, and novel genes for the CAKUT and CHD phenotype. Associated additional structural malformations were identified and categorized.ResultsThirty-two patients were identified. Eight patients had causative variants for the CAKUT/CHD phenotype, three patients had candidate variants, and three patients had potential novel variants. Five patients had variants in genes not associated with the CAKUT/CHD phenotype, and 13 patients had no variant identified. Of these, eight patients were identified as having possible alternative causes for their CHD/CAKUT phenotype. Eighty-eight percent of all CAKUT/CHD patients had at least one additional organ system with a structural malformation.ConclusionsOverall, our study demonstrated a high rate of monogenic etiologies in hospitalized patients with both CHD and CAKUT, with a diagnostic rate of 44%. Thus, physicians should have a high suspicion for genetic disease in this population. Together, these data provide valuable information on how to approach acutely ill patients with CAKUT and CHD, including guiding diagnostic work up for associated phenotypes, as well as novel insights into the genetics of CAKUT and CHD overlap syndromes in hospitalized children.

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Section: Discussionsupporting

confidence: 46%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

et al. 2023

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“…In the present case, no such abnormality was detected on the ultrasound abdomen and pelvis, which made this case an isolated KFS without any association with other syndromes, making this a unique case that could have been underdiagnosed. Various cardiac and renal manifestations are associated with KFS, which changes the type as per the various classifications and, hence, the management [7].…”

Section: Discussionmentioning

confidence: 99%

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Patil,

Jain,

Kumar

et al. 2024

Cureus

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Klippel-Feil syndrome (KFS) is a triad comprising cervical spine fusion, a low posterior hairline, and constrained neck movement. This triad is not universally present. The most frequent accompaniment is Sprengel's scapula deformity. According to the Feil classification, Class 1 (C1) is an immense fusion of many cervical vertebrae, Class 2 (C2) is a fusion of one or two vertebrae only, and Class 3 (C3) is coupled with thoracic and lumbar spinal vertebral fusion in addition to the fusion of the cervical vertebrae. Clarke's categorization of KFS includes other associated anomalies. The different classification systems for KFS have been made by the different specialists to whom patients may present, which include orthopedic surgeons, neurosurgeons, orthodontists, faciomaxillary surgeons, cardiologists, and pediatricians. This anomaly being rare and the lack of universally accepted classification may lead to confusion regarding the identification of the syndrome, especially the Clarke Type 3 with isolated facial dysmorphism may go undiagnosed. We report a case with KFS-Clarke Type 3 with isolated facial dysmorphism and Feil Type 2 with the fusion of C2-C3 cervical vertebrae, detected as an incidental radiologic finding, and initial impression of adenoid facies. Hence, this case also highlights the contrasting features between the facial dysmorphism of Clarke Type 3 KFS and adenoid facies.

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Supernumerary Kidney (Triple Kidney) With Horseshoe Malformation: A Case Report

Nimkar¹,

Yelne²,

Gaidhane³

et al. 2022

Cureus

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The presence of an extra (third) kidney is an unusual congenital anomaly of the urinary system (US), having less than a hundred cases reported globally. Owing to the rare occurrence of this complex anomaly, the fused supernumerary kidney and horseshoe portion is very scarcely reported with unknown incidence. This paper presents a rare renal anomaly case of a fused supernumerary kidney with a horseshoe portion in a 41-yearold male who presented with fever, abdominal pain, and burning micturition. CT of the kidney urinary bladder showed non-rotation of the right kidney with a supernumerary malrotated horseshoe-shaped kidney and malrotated left kidney with features of acute pyelonephritis. The patient was managed with double J stenting and appropriate antibiotics till discharge.

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Ventricular Septal defect (VSD) as an extra renal manifestation in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Syndrome: A rare Case report

Cited by 4 publications

References 5 publications

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

Klippel-Feil Syndrome With Isolated Facial Dysmorphism: A Clinical Conundrum With Resemblance to Adenoid Facies

Supernumerary Kidney (Triple Kidney) With Horseshoe Malformation: A Case Report

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