Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

2021 ◽  
Author(s):  
Tsubasa Shimozono ◽  
Kentaro Ueno ◽  
Naohiro Shiokawa ◽  
Seiko Ohno ◽  
Yoshifumi Kawano
Keyword(s):  
Early Diagnosis ◽  
Tetralogy Of Fallot ◽  
Danon Disease

scholarly journals Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes

2015 ◽  
Vol 66 (2) ◽  
pp. 168-174 ◽  
Author(s):  
Yoko Hashida ◽  
Taizo Wada ◽  
Takekatsu Saito ◽  
Kunio Ohta ◽  
Yoshihito Kasahara ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Membrane Protein ◽  
Danon Disease ◽  
Flow Cytometric

scholarly journals A rare cause of Right ventricular outflow tract Pseudoaneurysm in Tetralogy of Fallot

2022 ◽  
Author(s):  
JAVID RAJA ◽  
Sachin Mahajan ◽  
Neha Bharti ◽  
Ganesh Munirathinam
Keyword(s):  
Early Diagnosis ◽  
Right Ventricular ◽  
Tetralogy Of Fallot ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Outflow Tract ◽  
Rare Entity ◽  
Intracardiac Repair ◽  
The Right ◽  
High Degree

Pseudoaneurysm of the right ventricular outflow tract(RVOT) is an uncommon yet catastrophic complication after intracardiac repair of Tetralogy of Fallot(TOF). We describe a patient diagnosed with RVOT pseudoaneurysm in the immediate postoperative period after complete repair for TOF with single pulmonary artery. The pseudoaneurysm was repaired successfully. This case is reported to emphasise the importance of a high degree of suspicion of this rare entity in these patients for its early diagnosis and management.

scholarly journals Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Valeria Novelli ◽  
Antonio Bisignani ◽  
Gemma Pelargonio ◽  
Guido Primiano ◽  
Maria Lucia Narducci ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Early Diagnosis ◽  
Clinical Utility ◽  
Danon Disease

scholarly journals Fungal infective endocarditis of polytetrafluoroethylene pulmonary valve with Paecilomyces species following tetralogy of Fallot correction

2020 ◽  
Vol 7 (5) ◽  
pp. 1666
Author(s):  
Sumeet Anand ◽  
Swaminathan Vaidyanathan ◽  
Mustafa Janeel ◽  
Neville A. G. Solomon
Keyword(s):  
Infective Endocarditis ◽  
Early Diagnosis ◽  
Tetralogy Of Fallot ◽  
Laboratory Tests ◽  
Pulmonary Valve ◽  
Surgical Intervention ◽  
Immunocompromised Host ◽  
Bacterial Endocarditis ◽  
High Index Of Suspicion ◽  
Early Surgical Intervention

Fungal infective endocarditis of the prosthetic pulmonary valve in non immunocompromised host is growing phenomena attributed to the increased use of prosthetic materials. High mortality and neurovascular sequalae is commonly seen in such case if treatment is delayed. Often misdiagnosed as bacterial endocarditis due to closely resembling clinical features and lack of inexpensive and readily available laboratory tests, the diagnosis is often delayed. High index of suspicion and early surgical intervention is needed for early diagnosis and management

Aspergillus Endocarditis in Childen: Case Report and Review of the Literature

PEDIATRICS ◽  
1981 ◽  
Vol 68 (1) ◽  
pp. 73-78
Author(s):  
Robyn J. Barst ◽  
Alice S. Prince ◽  
Harold C. Neu
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Aspergillus Fumigatus ◽  
Tetralogy Of Fallot ◽  
Infected Patient ◽  
Blood Cultures ◽  
Surgical Removal ◽  
Environmental Surveillance ◽  
Review Of The Literature ◽  
Made In

Aspergillus fumigatus endocarditis developed in a 2½-year-old girl after repair of tetralogy of Fallot. There have been 14 other cases of Aspergillus endocarditis in children described in the literature. Fever and embolic phenomenon, particularly to the CNS, were the most common presenting manifestations. Consumptive coagulopathy developed in this patient as it has in other children and should suggest the diagnosis of Aspergillus endocarditis inasmuch as blood cultures are uniformly negative. Antemortem diagnosis was made in four of 15 patients. Only one patient survived the infection. Environmental surveillance is crucial when a case is encountered. Survival of the infected patient occurs only with early diagnosis and surgical removal of the infected tissue.

Red Flags: Barriers to Listening and Spoken Language in Children with Hearing Loss

2014 ◽  
Vol 24 (1) ◽  
pp. 11-18
Author(s):  
Andrea Bell ◽  
K. Todd Houston
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Skill Acquisition ◽  
Dynamic Process ◽  
Spoken Language ◽  
Red Flags ◽  
Careful Monitoring ◽  
Auditory Development ◽  
Children With Hearing Loss ◽  
Family Centered

To ensure optimal auditory development for the acquisition of spoken language, children with hearing loss require early diagnosis, effective ongoing audiological management, well fit and maintained hearing technology, and appropriate family-centered early intervention. When these elements are in place, children with hearing loss can achieve developmental and communicative outcomes that are comparable to their hearing peers. However, for these outcomes to occur, clinicians—early interventionists, speech-language pathologists, and pediatric audiologists—must participate in a dynamic process that requires careful monitoring of countless variables that could impact the child's skill acquisition. This paper addresses some of these variables or “red flags,” which often are indicators of both minor and major issues that clinicians may encounter when delivering services to young children with hearing loss and their families.

Neonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Urology ◽  
2020 ◽  
Author(s):  
Angelena Edwards ◽  
Niccolo M. Passoni ◽  
Rebecca Collins ◽  
Smitha Vidi ◽  
Jyothsna Gattineni ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Ambiguous Genitalia ◽  
Serum Electrolyte ◽  
Drash Syndrome
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