scholarly journals The first reported case of Noonan syndrome complicated with hepatocellular carcinoma.

Author(s):  
Satoru Kakizaki ◽  
Daisuke Uehara ◽  
Hiroki Tojima ◽  
Takayoshi Suga ◽  
Yuichi Yamazaki ◽  
...  

Noonan syndrome is a genetic multisystem disorder characterized by distinctive facial features, developmental delay, congenital heart disease, and other conditions. It is associated with mutation of genes encoding the proteins in the RAS-MAPK pathway, including PTPN11. We herein describe the first case of Noonan syndrome complicated with hepatocellular carcinoma.

PEDIATRICS ◽  
1995 ◽  
Vol 95 (6) ◽  
pp. 944-948
Author(s):  
Mohammad Al Fadel Saleh ◽  
Mohammad S. Al-Madan ◽  
Hashim H. Erwa ◽  
Ivy Defonseka ◽  
Saira Z. Sohel ◽  
...  

Objective. To report the first case of human infection (infective endocarditis [IEI]) caused by Pasteurella gallinarum and to review the literature regarding IE caused by the genus Pasteurella. Setting. University hospital based. Patient. An adolescent boy who underwent successful correction for truncus arteriosus 10 years before the present illness. Results. Persistent fever, pallor, and a palpable spleen suggested IE clinically. Echocardiography documented vegetation in the conduit that was used for surgical correction. Blood cultures grew P. gallinarum and confirmed its role as the causative organism for IE in the patient. Conclusion. This case illustrates that IE may develop in a child with congenital heart disease several years after surgical intervention using material that is foreign to the body (conduit), and that such a complication may involve unusual pathogens. These observations emphasize the need for careful long-term follow-up of children with congenital heart disease even after successful surgical correction.


2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-227962 ◽  
Author(s):  
Eric Allan Meyerowitz ◽  
Sarah Prager ◽  
Karen Stout ◽  
Alison Roxby

The role of antibiotic prophylaxis for prevention of infective endocarditis is unknown. Endocarditis prophylaxis is recommended for certain high-risk individuals prior to dental procedures. To our knowledge, this is the first case reported in the literature of a patient with complex congenital heart disease developing endocarditis in the period immediately following otherwise uncomplicated intrauterine device insertion.


Biomolecules ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. 879 ◽  
Author(s):  
Kylia Williams ◽  
Jason Carson ◽  
Cecilia Lo

Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes.


2012 ◽  
Vol 158A (8) ◽  
pp. 1918-1923 ◽  
Author(s):  
Cheng Luo ◽  
Yi-Feng Yang ◽  
Bang-Liang Yin ◽  
Jin-Lan Chen ◽  
Can Huang ◽  
...  

1998 ◽  
Vol 14 (2) ◽  
pp. 78-81
Author(s):  
Vinod S Bhatara ◽  
Sami Awadallah

Objective: To report a case of trazodone-associated syncope in a 19-year-old woman with congenital cardiac anomalies and to review risk factors and mechanisms involved in this case. Case Summary: A 19-year-old woman diagnosed with Noonan syndrome with congenital cardiac anomalies tolerated sertraline, but had a syncopal episode when trazodone was used. There was no recurrence of syncope after the trazodone was discontinued. Discussion: The syncopal episode could have resulted from either trazodone or congenital heart disease, but it most likely resulted from a trazodone–congenital heart disease interaction. Trazodone is not cardiotoxic in most patients; our patient was probably vulnerable to the cardiotoxic effects of trazodone due to congenital cardiac defects. Conclusions: Trazodone can precipitate arrhythmias or syncope in susceptible patients with heart disease and should be prescribed cautiously in patients with congenital heart disease. In such cases, it may be safer to use a selective serotonin-reuptake inhibitor.


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