RESUMEN
Catecholaminergic polymorphic ventricular tachycardia (CPVT) manifests with episodic syncope or sudden death in young patients following physical activity or emotional stress. The autosomal recessive form of CPVT is caused by mutations in the CASQ2 gene. In a consanguineous family, a novel homozygous CASQ2 mutation (p.L77P) was identified in a child with CPVT who required implantation of a cardioverter defibrillator due to episodes of syncope while on medical therapy. Genetic testing found the younger sibling, who had normal initial clinical screening, to be affected. Our cases underscore the importance of family screening through genetic testing to preemptively apply the appropriate medical intervention in CPVT.
Asunto(s)
Calsecuestrina/genética , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas , Mutación/genética , Polimorfismo de Nucleótido Simple/genética , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/genética , Adolescente , Tamización de Portadores Genéticos , Heterocigoto , Humanos , Masculino , Fenotipo , Arabia SauditaRESUMEN
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.
Asunto(s)
Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patología , Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/patología , Defectos del Tabique Interatrial/genética , Defectos del Tabique Interatrial/patología , Riñón/anomalías , Femenino , Humanos , Lactante , Masculino , Linaje , Arabia SauditaRESUMEN
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be challenging. We describe our experience with ATS in Riyadh, Saudi Arabia, by presenting a case series involving four patients in the pediatric cardiology clinic confirmed to have ATS. Despite the diversity in phenotypes and clinical course among the four cases, all patients had bidirectional ventricular tachycardia and were confirmed to have ATS by performing genetic testing. In this case series, we identified one novel and three previously described KCNJ2 mutations. We also confirmed the beneficial effect of AAI pacing in one of our patients, together with medical therapy with ß-blockers and flecainide. In Saudi Arabia, there is a distinct genetic pool and a high incidence of inherited diseases. Raising awareness about these diseases is crucial, especially in a country such as Saudi Arabia, wherein consanguinity remains a significant factor leading to an increased incidence of inherited diseases. Furthermore, because of the limited information available regarding this rare syndrome, we believe that this case series would offer an opportunity to provide a better understanding of ATS in our local region and worldwide.
RESUMEN
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiomyopathy characterized histologically by the replacement of ventricular myocardium with fibrous and fatty tissue, and clinically by ventricular tachycardia arrhythmias primarily of right ventricular (RV) origin. Implantable cardioverter defibrillator (ICD) is the only proven therapy to reduce mortality in ARVC/D patients. However, it has the risk of inappropriate anti-tachycardia pacing (ATP) or shocks. This study aimed to assess the occurrence of appropriate and inappropriate ICD therapies in ARVC/D patients who underwent ICD implantation in a single Cardiac Centre. METHODS: Retrospective analysis of the data of patients with the diagnosis of ARVC/D based on the 2010 revised Task Force Criteria, who underwent ICD implantation in the Heart Centre, at King Faisal Specialist Hospital and Research Center (KFSH&RC), Riyadh between January 1997 and May 2016. The clinical data and information about appropriate and inappropriate ICD therapies were obtained from medical records with the review of the available intra-cardiac electrograms (EGMs). RESULTS: Twenty-two ARVC/D patients with ICD implantation (20 males (91%), mean age at ICD implantation: 32 ± 14 years). ICD was implanted for secondary prevention of sudden cardiac death (SCD) in 15 patients (68.2%), and for primary prevention in 7 patients (31.8%). At mean follow-up of 9.4 ± 4.8 years, 11 patients (50%) had appropriate ICD therapies, and five patients (22.7%) had inappropriate ICD therapies. Out of 950 ICD therapies, 865 (91%) were appropriate (586 episodes of VT/VF treated with ATP (61.3%), and 279 episodes treated with shocks (29.37%)) and 85 (9.4%) were inappropriate (45 episodes treated with ATP (4.73%), and 40 treated with shocks (4.21%)). CONCLUSION: ARVC/D patients are at risk of VT/VF arrhythmias. ICD therapy is the only proven life-saving therapy in those patients. Most of ICD therapies in our patient's population are appropriate, and ATP therapy is effective in terminating most of VT episodes. Although we do not have any patient with subcutaneous ICD, the high success rate of ATP suggests that transvenous ICD would be more appropriate in ARVC/D patients.
RESUMEN
Lightning strikes cause severe injuries and fatalities. Injuries vary from self-limiting skin manifestations to cardiac arrest and death. Because the event is sudden and unpredictable, assessment of the direct effects of the lightning on the human heart is usually impossible. In this case, a 16-year old boy who had an implanted loop recorder subcutaneous cardiac monitor was hit by lightning during a picnic and survived. A cardiac rhythm strip was recorded live during the strike. SIMILAR CASES PUBLISHED: 0.
Asunto(s)
Electrodos Implantados , Traumatismos por Acción del Rayo/fisiopatología , Adolescente , Humanos , MasculinoRESUMEN
BACKGROUND: Congenital long QT syndrome (LQTS) is an inherited, potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for â¼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. OBJECTIVES: To describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population. METHODS: Fifty-six Saudi families with LQTS were consecutively recruited and evaluated. Sequencing of KCNQ1, KCNH2, and SCN5A genes was conducted on all probands, followed by screening of family relatives. RESULTS: Genetic analysis was positive in 32 (57.2%) families, with mutations in KCNQ1 identified in 28 families (50%). Surprisingly, 17 (53.1%) probands were segregating homozygous mutations. Family screening identified 123 individuals with mutations; 89 (72.4%) were heterozygous, 23 (18.7%) were homozygous, and 11 (8.9%) were compound heterozygous. Compared to heterozygous, the phenotype was more severe in homozygous individuals, with cardiac symptoms in 78.3% (vs 12.4%), family history of sudden death in 64.7% (vs 44.4%), and prolonged QT interval in 100% (vs 43.8%). Congenital deafness was found in 11 (47.8%) homozygous probands. CONCLUSION: Our study provides insight into the clinical and molecular profiles of LQTS in a consanguineous population. It underscores the importance of preemptive management in homozygous patients with LQTS and the value of clinical and molecular screening of at-risk relatives.