Neonatal infective endocarditis in a cardiac rhabdomyoma case: A rare presentation

Neonatal infective endocarditis (IE) is an exceedingly rare disease and usually not associated with cardiac rhabdomyomas or any underlying structural cardiac anomalies. Cardiac rhabdomyoma is also the most common benign primary cardiac tumor. The prognosis depends on the size, location of tumors, and outflow tract obstruction but can regress within 2 months of age and reduces the necessity of surgery. Due to the variable clinical features and course, we need to evaluate cardiac vegetation as soon as possible for better outcomes. A combination of these two conditions was not reported before. Here, we presented a case of IE with cardiac rhabdomyoma in a male baby which is first reported from Bangladesh previously.

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Abstract #255: Kenny-Caffey Syndrome: A Rare Presentation of a Rare Disease

Endocrine Practice ◽

10.1016/s1530-891x(20)44016-9 ◽

2006 ◽

Vol 12 ◽

pp. 93-94

Author(s):

Khurshid Ahmad Khan ◽

Stephen A. Brietzke

Keyword(s):

Rare Disease ◽

Rare Presentation

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Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease

American Journal of Ophthalmology Case Reports ◽

10.1016/j.ajoc.2021.101064 ◽

2021 ◽

Vol 22 ◽

pp. 101064

Author(s):

Hana Mahallati ◽

James Kirkland Roberts ◽

Amer Assal ◽

Divaya Bhutani ◽

David C. Park ◽

...

Keyword(s):

Rare Disease ◽

Young Patient ◽

Optic Disc ◽

Optic Disc Edema ◽

Rare Presentation ◽

Disc Edema

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Rare Presentation of Infective Endocarditis Due To Salmonella entrica subspecies salamae (subgroup ll) In a Sickle Cell Anemia Girl

IDCases ◽

10.1016/j.idcr.2021.e01184 ◽

2021 ◽

pp. e01184

Author(s):

Nabil S. Dhayhi ◽

Ahmed E. Shamakhi ◽

Mohammed H. Hakami ◽

Hassan M. Alluli ◽

Tahani N. Bahkly ◽

...

Keyword(s):

Infective Endocarditis ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Rare Presentation

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Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

Cardiology in the Young ◽

10.1017/s1047951121000172 ◽

2021 ◽

pp. 1-9

Author(s):

Hamood N. Al Kindi ◽

Ayman M. Ibrahim ◽

Mohamed Roshdy ◽

Besra S. Abdelghany ◽

Dina Yehia ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Clinical Features ◽

Tuberous Sclerosis Complex ◽

Potential Role ◽

Severe Disease ◽

Cardiac Rhabdomyoma ◽

Urgent Surgery ◽

Pathogenic Mutations ◽

Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

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Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

Neuropediatrics ◽

10.1055/s-0039-1694976 ◽

2019 ◽

Vol 51 (01) ◽

pp. 049-052

Author(s):

Benedikt Hofmeister ◽

Celina von Stülpnagel ◽

Steffen Berweck ◽

Angela Abicht ◽

Gerhard Kluger ◽

...

Keyword(s):

Valproic Acid ◽

Literature Review ◽

Rare Disease ◽

Clinical Features ◽

Rare Diseases ◽

Rare Complication ◽

Genetic Diseases ◽

Related Effect ◽

Higher Sensitivity ◽

Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

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Primary Cardiac Tumor Presenting as Obstruction of the Left Ventricular Outflow Tract

Circulation Journal ◽

10.1253/circj.68.961 ◽

2004 ◽

Vol 68 (10) ◽

pp. 961-963 ◽

Cited By ~ 2

Author(s):

Yoshikazu Ohara ◽

Yoshikazu Hiasa ◽

Shinobu Hosokawa ◽

Koji Yamaguchi ◽

Riyo Ogura ◽

...

Keyword(s):

Cardiac Tumor ◽

Left Ventricular Outflow Tract ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Outflow Tract ◽

Primary Cardiac Tumor ◽

Left Ventricular Outflow

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Corynebacterium Diphtheriae Endocarditis - Surgery for Some but Not All!

Asian Cardiovascular and Thoracic Annals ◽

10.1177/021849230501300205 ◽

2005 ◽

Vol 13 (2) ◽

pp. 119-126 ◽

Cited By ~ 17

Author(s):

Bashisth Mishra ◽

Rebecca J Dignan ◽

Clifford F Hughes ◽

Nick Hendel

Keyword(s):

Surgical Treatment ◽

Infective Endocarditis ◽

Medical Treatment ◽

Rare Disease ◽

Corynebacterium Diphtheriae ◽

Aggressive Disease ◽

Prosthetic Valves ◽

Immediate Surgery

Corynebacterium diphtheriae endocarditis was thought to be a rare disease. We reviewed our experience in four cases of this disease treated over a period of 10 years. Seventy cases reported in literature were reviewed. The outcome is good if cases are carefully selected for medical or surgical treatment. We conclude that infective endocarditis due to C. diphtheriae, is perhaps more common than expected. It may be recognized more frequently and on occasion may be an aggressive disease. Those patients with an abnormal valve (including prosthetic valves) should be subjected to surgery at the earliest available opportunity, whereas patients with normal valves may be carefully watched during the course of medical treatment as long as immediate surgery can occur if needed.

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