Coronary arterial anomalies in a large group of patients undergoing coronary angiography in southeast Turkey

Background: The prevalence of coronary artery anomalies (CAA) are reportedbetween 0.6–1.3% in the literature. CAA are usually asymptomatic incidental findings, but they may deteriorate coronary circulation, cause symptoms andlead to sudden cardiac death; especially in young athletes. Since interventionalprocedures are increasing rapidly for treatment of coronary artery disease (CAD) inthe modern era, comprehensive understanding of CAA is becoming progressively critical element in dealing with CAD.Materials and methods: We reviewed the database of the Cardiac Catheterisation Laboratory of Sani Konukoglu University Hospital in Gaziantep, Turkey. All patientswho were subjected to coronary angiography from 1998 to 2006 were included.Results: Among 53,655 coronary angiographies performed, CAA were foundin 653 patients (incidence of 1.21%); 590 (90.3%) patients had anomalies oforigin and distribution and 63 (11.7%) had coronary fistulae. Separate origins ofleft anterior descending (LAD) and left circumflex (LCX) coronary artery from theleft sinus of Valsalva was the most common anomaly (64.1%). Coronary arteriesbranching from anomalous aortic origin was the second most common anomaly(16.5%). Right coronary artery (RCA) originating from left sinus of Valsalva or leftmain coronary artery (LMCA) was observed in 55 (8.4%) patients, LCX arising fromRCA or right sinus of Valsalva (RSV) was seen in 52 (7.9%) patients and LMCA orLAD originating from RSV was seen in 14 (0.2%) patients. There were 16 (2.45%) patients with single coronary artery and 1 (0.15%) patient with LMCA originating from pulmonary artery.Conclusions: The incidence and the pattern of CAA in our patient population were similar with previous studies. Angiographic recognition of these vessels is importantbecause of their clinical significance and importance in patients undergoing coronary angioplasty or cardiac surgery

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

First published: 10 March 2023. OnlinePublLethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, and Giedre Grigelionien

Coronary arterial anomalies in a large group of patients undergoing coronary angiography in southeast Turkey

cagliyan, caglar/0000-0002-2529-4995WOS: 000320777400006PubMed: 23740498Background: The prevalence of coronary artery anomalies (CAA) are reported between 0.6-1.3% in the literature. CAA are usually asymptomatic incidental findings, but they may deteriorate coronary circulation, cause symptoms and lead to sudden cardiac death; especially in young athletes. Since interventional procedures are increasing rapidly for treatment of coronary artery disease (CAD) in the modern era, comprehensive understanding of CAA is becoming progressively critical element in dealing with CAD. Materials and methods: We reviewed the database of the Cardiac Catheterisation Laboratory of Sani Konukoglu University Hospital in Gaziantep, Turkey. All patients who were subjected to coronary angiography from 1998 to 2006 were included. Results: Among 53,655 coronary angiographies performed, CAA were found in 653 patients (incidence of 1.21%); 590 (90.3%) patients had anomalies of origin and distribution and 63 (11.7%) had coronary fistulae. Separate origins of left anterior descending (LAD) and left circumflex (LCX) coronary artery from the left sinus of Valsalva was the most common anomaly (64.1%). Coronary arteries branching from anomalous aortic origin was the second most common anomaly (16.5%). Right coronary artery (RCA) originating from left sinus of Valsalva or left main coronary artery (LMCA) was observed in 55 (8.4%) patients, LCX arising from RCA or right sinus of Valsalva (RSV) was seen in 52 (7.9%) patients and LMCA or LAD originating from RSV was seen in 14 (0.2%) patients. There were 16 (2.45%) patients with single coronary artery and 1 (0.15%) patient with LMCA originating from pulmonary artery. Conclusions: The incidence and the pattern of CAA in our patient population were similar with previous studies. Angiographic recognition of these vessels is important because of their clinical significance and importance in patients undergoing coronary angioplasty or cardiac surgery

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients. It is caused by heterozygous mutations in the transforming growth factor β1 (TGFβ1) believed to result in improper folding of the latency-associated peptide domain of TGFβ1 and thus in increased or deregulated bioactivity. Losartan, an angiotensin II type 1 receptor antagonist, has been found to downregulate the expression of TGFβ type 1 and 2 receptors. Clinical trials with losartan have shown a benefit in Marfan syndrome, while trials are underway for Duchenne muscular dystrophy and other myopathies associated with TGFβ1 signaling. We hypothesized that due to its anti-TGFβ1 activity, losartan might be beneficial in Camurati-Engelmann disease. This report concerns a boy who presented at age 13 years with severe limb pain and difficulty in walking. Clinical and radiographic evaluation results were compatible with Camurati-Engelmann disease and the diagnosis was confirmed by mutation analysis (c.652C > T [p.Arg218Cys]). The boy underwent an experimental treatment with losartan at a dosage of 50 mg/day, orally. During the treatment period of 18 months, the intensity and frequency of limb pain decreased significantly (as shown by a pain diary), and muscle strength improved, allowing the boy to resume walking and climbing stairs. No obvious side effects were observed. We cautiously conclude that TGFβ1 inhibition with losartan deserves further evaluation in the clinical management of Camurati-Engelmann disease

Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature

Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( 2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC cases including these three new cases have been reported. Seven of these cases were not characterized morphologically; in the remainder, 80% had an inverted duplication, 17% a ring and 3% a minute shape. 81% of the reported neocentric sSMC carriers showed severe, 12% moderate and 8% no clinical abnormalities. In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC. Copyright (c) 2007 S. Karger AG, Basel.Wo

Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC cases including these three new cases have been reported. Seven of these cases were not characterized morphologi- cally; in the remainder, 80% had an inverted duplication, 17% a ring and 3% a minute shape. 81% of the reported neocentric sSMC carriers showed severe, 12% moderate and 8% no clinical abnormalities. In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC