INTRODUCTION:Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome.CASE DESCRIPTION:The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient’s condition deteriorated, and he died aged 8 months.CONCLUSION:The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy.

Congenital heart diseases (CHD) are suggested to be associated with advanced maternal age in different ethnicities and geographical locations. To provide a profound ground for comparison with Saudi Arabian population, in this study, we have assessed the association between maternal age and congenital heart diseases for different age groups during the period from 2016 to 2018 in King Abdul-Aziz Medical City in Jeddah. In this case-control study, we found no evidence relating maternal age to the incidence of CHD. However, an association between maternal age and the type of CHD was found. Mothers who are 35 years old or younger are more likely to have a baby with atrial septal defects, while babies of mothers who are older than 35 presented mostly with ventricular septal defects and patent ductus arteriosus. Therefore, no modification to the local clinical practice, including a referral of patients for fetal echocardiography based on maternal age, is recommended.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Methods This was a retrospective chart review study conducted on all dysmorphic syndrome patients who attended genetic clinics at King Khalid National Guard Hospital in King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia from 2005 to 2016. Dysmorphic pediatric patients less than 14 years old who had genetic testing to confirm their diagnosis were included in the study. Patients who did not have any previous echocardiography were excluded. Results A total of 212 individuals (47% males and 53% females) were included. Eighty-five percent of Down syndrome patients had CHDs, and the most common CHD was an atrial septal defect (ASD) (51%). In patients with Turner syndrome, 45% of them had CHDs, and bicuspid aortic valve (BAV) (40%) was the most common defect. In DiGeorge syndrome, 81% of patients had CHDs, and ventricular septal defect (VSD) (41%) was the most common. In Williams syndrome, 83% of patients had CHDs. All patients with Noonan, Edwards, CHARGE (coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities), and Rubinstein-Taybi syndromes were found to have CHDs. In Patau syndrome and Joubert syndrome, 50% of patients in each had CHDs. Patients with Prader Willi syndrome had normal findings in the echocardiogram.

Q fever is a zoonotic disease that is caused by Coxiella burnetii, a gram-negative coccobacillary bacterium. Human infection primarily occurs following the inhalation of aerosols containing C. burnetii. The infection can either present in an acute or chronic form. The three main presentations are flu-like syndrome, atypical pneumonia, and hepatitis. Chronic Q fever mainly affects the heart where the disease manifests as endocarditis. In this case report, the patient was born at term with congenital heart defects, namely double outlet right ventricle (DORV), ventricular septal defects (VSD), and coarctation of the aorta. He underwent coarctation repair and pulmonary artery binding. At the age of three years, he presented with palpitation, sudden high-grade fever, myalgia, and dyspnea. Endocarditis was suspected due to a history of a surgical repair of congenital heart defects. Blood cultures were negative, however, a diagnosis of Q fever endocarditis was confirmed based on serologic titers. Q fever endocarditis is a challenging diagnosis since the echocardiography findings are often nonspecific. Moreover, Q fever can present as negative-culture endocarditis with low sensitivity of blood and tissue polymerase chain reaction (PCR) for C. burnetii. Hence, the modified Duke criteria has considered phase 1 immunoglobulin G (IgG) titers of 1:800 or more as diagnostic for infective endocarditis. Although uncommon, physicians should maintain a high index of suspicion for Q fever endocarditis, especially among patients with pre-existing structural heart disease and associated symptoms and risk factors such as animal exposure.

known non-syndromal thoracic aortic aneurysms and dissections (TAAD), Marfan syndrome (MFS) and bicuspid aortic valves (BAV). Risk factors for dissection and subsequent outcomes were compared for MFS, TAAD and BAV.Methods: Probands presenting with acute dissection between 1988 and 2014 were evaluated, enrolled in a surveillance program and family members were screened. Outcomes were compared with aortic patients without dissection. Logistic and Cox regression models were used.Results: A total of 144 probands (age 43.7±10.1 years, 76% male; 76% TAAD, 19% MFS, 4% BAV) were compared with 623 patients without dissection (age 35.4±13.9 years, 72% male; 33% TAAD, 31% MFS, 36% BAV), of whom 102 were first-degree relatives. Median follow-up was 7 years (interquartile range 3-15 years). Independent predictors (odds ratio (95% confidence interval)) for presentation with dissection included TAAD (12.6 (5.3-29.9)), MFS (6.6 (2.6-17.2)), family history of dissection (3.3 (2.2-5.1)) and age (1.05 (1.03-1.07; all p<0.001). Survival after dissection was comparable between TAAD, MFS and BAV patients (p=0.989), but lower than in patients without dissection (p<0.001). Recurrent dissections occurred in 15 (19%) probands, with family history of dissection as an independent risk factor (hazard ratio 3.6 (1.1-11.8); p=0.032).Conclusions: Risk of aortic dissection is greater with TAAD than with MFS or BAV. Recurrent dissection may be more likely in TAAD, although long term survival was similar for MFS and TAAD. Family history of dissections is a strong predictor for adverse outcomes.http://dx.