Physicians’ knowledge and attitudes in Saudi Arabia regarding implantable cardiac defibrillators

Objectives: To evaluate knowledge and attitude of physicians involved in the management of patients with heart failure regarding implantable cardioverter-defibrillator (ICD). Methods: We conducted personal interviews with physicians involved in treating patients with heart failure. Between October 2015 and February 2016, the study was conducted in hospitals in the Riyadh region where no cardiac electrophysiology service was available. Every participant was met in person and received an oral questionnaire that aimed to assess basic knowledge regarding ICD indications and benefits. Results: Sixty-three physicians were met from 13 hospitals (14 consultants and 49 specialists). Forty-one percent of participants use the recommended cut-off level of left ventricular ejection fraction (LVEF) which is ≤35% as the LVEF criterion for ICD referral in patients with cardiomyopathy. Only 50% of the consultants use ≤35% as the LVEF criterion for ICD referral. Seventy percent of the participants thought that ICD may improve heart failure symptoms. Forty-eight percent of physicians have a defined channel to refer patients to higher centers for ICD implant. There was no statistically significant difference between physicians’ knowledge when we categorized them according to three different factors: (1) physician’s specialty (cardiology vs. internal medicine); (2) physician’s degree (consultant vs. specialist); and (3) physician’s location (inside vs. outside Riyadh city). Conclusion: There is a lack of knowledge of current clinical guidelines regarding ICD implantation for patients with heart failure at general hospitals in Saudi Arabia. This finding highlights the need to improve the dissemination of guidelines to practitioners involved in managing patients with heart failure in an effort to improve ICD utilization. Keywords: Cardiac defibrillator, Heart failure, Physicians’ knowledge, Saudi Arabi

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism

Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hypoparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis or secretion of PTH, such as calcium-sensing receptor and PTH defects, or defects in the development of the parathyroid gland [glial cell missing 2, (GCM2)], have been established as causes of familial isolated hypoparathyroidism. Transcription factor GCM2 is a crucial regulator of parathyroid gland homeostasis. Transmission of pathogenic variants encoding GCM2 occurs in an autosomal recessive or dominant manner. Case Presentation: Herein, we describe the case of a 12-year-old boy, born to consanguineous parents, who presented with abnormal movement during the first week of birth. Laboratory results revealed hypocalcemia, hyperphosphatemia, and low PTH levels. Genetic testing detected a novel homozygous variant in the GCM2 gene, c.391C>T (p.Arg131*). Although this variant has not been previously described, it is likely the pathogenic cause of this condition. Conclusion: To the best of authors' knowledge, this variant has not been listed in any database. Proper replacement therapy is likely to have good long-term outcomes for our patient. [JBCGenetics 2022; 5(1.000): 25-28