Gerbode Ventricular Septal Defect –A  Rare Cardiac Anomaly Associated with  Genetic Variants in Indian Population- A  Case Series

Borkar, Yashvanthi; Nayak, Krishnananda; Shetty, Ranjan; Bhat, Gopalakrishna P; Moka, Rajasekhar

doi:10.7860/jcdr/2017/23820.9549

Cited by 6 publications

(6 citation statements)

References 22 publications

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“…The incidences in literature of the three types amount to 76%, 16%, and 8%, respectively [ 12 , 25 , 33 ]. The congenital form of the Gerbode defect mainly comprises types II and III [ 1 , 10 ]. Our case analysis revealed an incidence of 38.3% for type I, an incidence of 48.9% for type II, and an incidence of 12.8% for type III.…”

Section: Resultsmentioning

confidence: 99%

“…However, this systematic review of the literature focuses on the congenital form of the Gerbode defect. Although congenital LV-to-RA shunt represents a rare disease, accounting for less than 1% of all congenital cardiac defects [ 1 , 5 , 7 , 8 , 9 , 10 , 11 ], it has significant clinical importance [ 12 ]. Various comorbidities and complications that may occur during the course of disease have a considerable impact on the outcome.…”

Section: Introductionmentioning

confidence: 99%

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Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

Winter,

Strizek,

Recker

2024

JCDD

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The congenital Gerbode defect is defined as an abnormal communication between the left ventricle and the right atrium. This review aimed to summarize existing evidence, shed light on the clinical implications, and identify knowledge gaps. The systematic literature search was conducted in the PubMed and Google Scholar medical databases using specifically selected keywords. The inclusion of each publication was assessed according to predefined eligibility criteria based on the PICOM (Population, Phenomenon of Interest, Context, Methodology) schema. Titles and abstracts were screened independently by two authors. Available full-text versions of included publications were reviewed and relevant information was extracted. A total of 78 reports were included. The compilation of all congenital Gerbode defect cases described in the literature revealed a variety of clinical presentations comprising dyspnea, palpitations, growth retardation, and asymptomatology. A suitable multimodal diagnostic approach for newborns consists of auscultation, TTE, and optionally TEE and MRI. Because of its rarity, diversity of findings, unknown pathophysiology, and similarity to more common cardiac diseases, the diagnostic challenge remains significant. To prevent untreated long-term sequelae, early individualized treatment is recommended. Surgical defect closure is preferred to device closure for evidence reasons, although major developments are currently taking place. In conclusion, the congenital Gerbode defect provides a diagnostic challenge for pediatricians to allow early diagnosis and intervention in order to improve patients’ quality of life.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

Winter,

Strizek,

Recker

2024

JCDD

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“…However, studies correlating GATA4 mutations and CHD are meager in India, despite a higher prevalence of CHD (Bhardwaj et al, 2015). Five studies so far have been carried out to find association of already known GATA4 polymorphisms with CHD in Indian cohort (Borkar, Nayak, Shetty, Bhat, & Moka, 2017;Bose et al, 2017;Dinesh et al, 2011;Mattapally, Nizamuddin, Murthy, Thangaraj, & Banerjee, 2015;Ramegowda et al, 2007) which could not report any novel mutation.…”

Section: Discussionmentioning

confidence: 99%

Functionally significant, novelGATA4variants are frequently associated with Tetralogy of Fallot

Dixit

Narasimhan

Balekundri³

et al. 2018

Human Mutation

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Transcription factor GATA4 is known to play crucial role during heart development, regulating expression of several other key cardiogenic factors. Various GATA4 mutations are reported in familial as well as sporadic cases of congenital heart defects (CHDs). To estimate the prevalence and pathogenic potential of GATA4 variants in our CHD cohort, we have screened 285 CHD cases along with 200 controls by Sanger sequencing and identified 9 genetic variants (c.23C>A; p.Ala8Asp, c.25G>A; p.Ala9Thr, c.223G>T; p.Ala75Ser, c.383A>T; p.Glu128Val, c.397A>T; p.Ser133Cys, c.682T>A; p.Trp228Arg, c.1064C>G; p.Thr355Ser, c.1073G>C; p.Ser358Thr, and c.1220C>A; p.Pro407Gln) in 22 unrelated CHD probands (frequency:7.72%). Five of these are novel and located in the N-terminal transactivation domain (TAD) and first zinc finger domain. Majority C-terminal domain variants are polymorphic. Two of the TAD variants p.Glu128Val, p.Ser133Cys, and a first zinc finger variant p.Trp228Arg, impair combinatorial synergy of NKX2-5, SRF, and TBX5, suggesting potential role of these domains in GATA4 interactions with these factors. Decreased DNA-binding affinity with EMSA also supports this observation. Homology modeling and tertiary structure comparison show conformational changes in these variants. Interestingly, GATA4 variants are more frequently associated with ToF (45%; P = 0.0046) and PS (22.7%; P < 0.0001) in spite of abundance of septal defects in our study cohort.

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“…The acquired Gerbode defect have iatrogenic, infective, traumatic, or ischemic etiologies [ 3 ]. For the congenital type, the pathogenesis is still poorly understood, although NKX2-5, GATA4, and TBX5 genes sequence variations have been implicated in some cases [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

An “Unusual” Diverticulated Appearance in Adult Direct Gerbode Defect: A Case Report

Soetisna

2022

Am J Case Rep

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Patient: Male, 46-year-old Final Diagnosis: Gerbode VSD • tricuspid regurgitation Symptoms: Fatigue • shortness of breath Medication: — Clinical Procedure: De Vega procedure • defect closure Specialty: Cardiac Surgery Objective: Rare disease Background: Gerbode defect is a defect that communicates the left ventricle (LV) to the right atrium (RA). Although it was originally identified as a congenital defect, it is becoming more common accepted that the lesion has either an iatrogenic or non-iatrogenic origin. In this article, the author presents an unusual diverticulated appearance of direct Gerbode defect in an adult patient without any prior history of cardiac pathology and the surgical technique used, hoping to increase awareness of similar cases. Case Report: A 46-year-old man presented with worsening shortness of breath and fatigue for 2 years. The patient’s medical history was only significant for high blood pressure, with no previous cardiac abnormalities. No other metabolic syndrome was identified in this patient. There was no family history of congenital heart disease. Echocardiography showed a Gerbode defect with left-to-right shunt from LV to RA. The author found a diver-ticulated lesion around the area of the Gerbode defect intraoperatively, which raised a suspicion that the diverticulum may have initiated the Gerbode defect. Conclusions: Congenital heart disease is currently one of the most common congenital diseases which require surgical intervention. The vast spectrum of severity in many congenital heart diseases makes the diagnosis and early recognition challenging, so many patients live with the condition undiagnosed until adulthood. Any abnormality which causes left-to-right shunting must be identified as early as possible to prevent further complications such as congestive heart failure.

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Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series

Cited by 6 publications

References 22 publications

Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

Congenital Gerbode Defect: A Left Ventricular to Right Atrial Shunt—State-of-the-Art Review of Its General Data, Diagnostic Modalities, and Treatment Strategies

Functionally significant, novelGATA4variants are frequently associated with Tetralogy of Fallot

An “Unusual” Diverticulated Appearance in Adult Direct Gerbode Defect: A Case Report

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