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We report the case of a 16-year-old boy who had myopericarditis following the first dose of a selective androgen receptor modulator called Testolone ("RAD-140"). These drugs are widely abused by physically active young adults; however, the drugs' side effects, which can be life-threatening, are not well characterized.
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Masking of preexcitation from a slow-conducting, decremental AP due to preexcitation via an FV pathway.
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Hypertrophic cardiomyopathy (HCM) is a well-known manifestation of inherited mitochondrial disease. Still, currently available gene panels do not include mitochondrial genome sequencing. Mitochondrial dysfunction plays a very important role in the pathogenesis of HCM, whether tested positive or negative by the currently available gene panels for HCM. Mitochondrial DNA variations may act as modifiers of disease manifestation in genotype-positive individuals. In genotype-negative individuals, it may be the primary driver of pathogenesis. A recent study has demonstrated that mitochondrial dysfunction is correlated with septal hypertrophy in genotype-negative HCM, which can be amenable to mitochondria-targeted therapy. It is important to consider mitochondrial genome sequencing as part of the genetic evaluation of HCM.
Hypertrophic cardiomyopathy or 'thick heart' is a common heart problem that can lead to abnormal heart rhythm and even heart failure. In older adults, it is often due to high blood pressure that causes the heart to pump against high resistance and hence becoming thick. However, it can occur without high blood pressure, often in young individuals with underlying heart muscle disease. Sometimes, there are many individuals in a family with thick hearts. In these instances, it is likely genetic. The individual may have a faulty gene related to heart muscle function causing the heart to become thick as an adaptation to inefficient heart muscle function. Mitochondria are tiny organelles inside our cells that make energy. When there is mitochondrial damage, heart muscles cannot generate energy efficiently. This can lead to a thick heart as well. Hence, it is important to test mitochondrial genes along with the heart muscle genes to find the cause of thick heart when it is unexplained, or a genetic cause is suspected.
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Cardiomiopatia Hipertrófica , DNA Mitocondrial , Humanos , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/diagnóstico , DNA Mitocondrial/genética , Mitocôndrias , Doenças Mitocondriais/genética , Doenças Mitocondriais/diagnóstico , MutaçãoRESUMO
Enterobacter cloacae cardiac implantable electronic device infections are rare but can be associated with significant morbidity and mortality. We report an 11-year-old female with Enterobacter cloacae infection of a dual-chamber transvenous pacemaker pocket. The report is supplemented by a comprehensive review of the literature on Enterobacter cloacae cardiac implantable electronic device infections.
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Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT) due to a retrograde slow conducting decremental accessory pathway (AP) which is often incessant and can lead to tachycardia-induced cardiomyopathy (TIC). We report the challenging clinical course of a pregnant adolescent with PJRT due to an atypical retrograde slow conducting decremental left posterolateral AP. Pregnancy is known to exacerbate supraventricular arrhythmias and can lead to adverse maternal and fetal outcomes. To the best of our knowledge, there are no prior reports on the clinical course of rare incessant and difficult-to-treat arrhythmias such as PJRT in a pregnant adolescent patient.
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In a familial cohort with 8 heterozygous carriers of a rare pathogenic SCN5A mutation (c.2482C>T), 4 female mutation carriers manifested with fetal ventricular tachycardia and 2:1 atrioventricular block. One presented with multifocal ectopic premature Purkinje-related complexes-like phenotype and atrial fibrillation later in life. These novel findings inform the need for robust fetal monitoring of mutation carriers.
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KCNT1 mutations are associated with childhood epilepsy, developmental delay, and vascular malformations. We report a child with a likely pathogenic KCNT1 mutation (c.1885A>C, p.Lys629Glu) with recurrent pulmonary haemorrhage due to aortopulmonary collaterals successfully managed with coil embolisation followed by right upper lobectomy.
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Prótese Vascular , Malformações Vasculares , Criança , Humanos , Mutação , Proteínas do Tecido Nervoso/genética , Canais de Potássio Ativados por Sódio/genéticaRESUMO
We report a 5-year-old girl with transient complete atrioventricular (AV) block following surgical closure of a symptomatic conoventricular ventricular septal defect (VSD) which recovered on post-operative day 9. She later presented with exertional dizziness and fatigue. While congenital cardiac defect repairs are occasionally complicated by complete heart block, this patient was found to have intra-Hisian Wenckebach which is rare in the pediatric population and can be very difficult to discern from surface electrocardiograms and by Holter monitoring. Mechanisms of post-surgical AV block, including intra-Hisian Wenckebach, are not well characterized in the pediatric population.
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Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs were included in this multi-institutional case series. The congenital cardiac abnormalities noted included tetralogy of Fallot (ToF) with pulmonary atresia and collaterals (n = 1), ToF with absent pulmonary valve (n = 1), ToF (n = 2), discontinuous right pulmonary artery (RPA) (n = 1), tricuspid atresia (TA) with normally related great arteries and pulmonary valve stenosis or atresia (n = 2) and coarctation of aorta (CoA) with bicuspid aortic valve (BAV) and borderline left-sided structures (n = 1). Genetic testing was obtained on seven of the eight twins but did not reveal any causal abnormality. A comprehensive review of literature yielded another 8 DiDi twin pairs with complex CHD. The CHD noted in these twin pairs included ToF (n = 2), CoA (n = 4), corrected transposition of great arteries (ccTGA) (n = 2), truncus arteriosus (n = 2), complete common atrioventricular canal (CCAVC) (n = 2), hypoplastic left heart syndrome (HLHS) (n = 2), Shone's complex (n = 1), and hypoplastic right heart syndrome (HRHS) (n = 1). Limited genetic testing was obtained on 4 of these twins and revealed trisomy 21 in a twin pair. Conotruncal abnormalities (42%), CoA (21%), and abnormalities of the right ventricle, the right ventricular outflow tract and pulmonary arteries (17%) are more prevalent in DiDi twins with complex CHD. Clustering of these abnormalities suggests a possible genetic basis; however, genetic testing was obtained on eleven of the twins, and except for trisomy 21 in a twin pair both of whom had CCAVC, did not reveal any causal abnormality. A major direct genetic contribution is therefore unlikely and like other CHD, the underlying etiopathological basis is likely multifactorial.
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Subcutaneous implantable cardioverter defibrillators (S-ICDs) are being used with increased frequency in children and patients with congenital heart disease. Vascular access complexities, intracardiac shunts, and specific anatomies make these devices particularly appealing for some of these patients. Alternative screening, implantation, and programming techniques should be considered based on patient size, body habitus, anatomy, procedural history, and preference. Appropriate and inappropriate shock rates are generally comparable to those seen with transvenous devices. Complications such as infection can occur, although their severity is likely to be less than that seen with transvenous devices. Technical advances are likely to further broaden S-ICD applicability.
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Desfibriladores Implantáveis , Cardiopatias Congênitas , Humanos , Criança , Cardiopatias Congênitas/terapia , Morte Súbita Cardíaca/prevenção & controle , Resultado do TratamentoRESUMO
While Brugada syndrome (BrS) is well described in adults and older children, presentation of BrS within the first 12 months of life is rare and therefore poorly characterized. We report a 7-year-old male with a malignant BrS phenotype with onset at 8 months of age, leading to multiple ventricular tachycardia (VT) and ventricular fibrillation (VF) related cardiac arrests and ultimately his death. The report is supplemented by a comprehensive review of existing literature on infantile-onset BrS and unique features in this population are discussed.
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Background: High degree atrioventricular block (HDAVB) is an uncommon complication of non-ST-segment elevation myocardial infarction (NSTEMI) that frequently necessitates pacemaker implantation. This contemporary analysis compares need for pacemaker implantation based on the timing of intervention in acute NSTEMI complicated by HDAVB.Methods: We used 2016-2017 National Inpatient Sample database to identify admissions with NSTEMI and HDAVB. Time to coronary intervention from initial admission was used to segregate the admissions into two groups: early invasive strategy (EIS) (<24 hours) and delayed invasive strategy (DIS) (>24 hours). Multivariable linear and logistic regression analysis was performed to compare in-hospital outcomes among the two groups.Results: Out of 949,984 NSTEMI related admissions, coexistent HDAVB was present in 0.7% (n=6725) patients. Amongst those, 55.61% (n=3740) hospitalizations included invasive intervention (EIS=1320, DIS=2420). Patients treated with EIS were younger (69.95 years vs. 72.38 years, P<0.05) and had concomitant cardiogenic shock. Contrarily, prevalence of chronic kidney disease, heart failure, and pulmonary hypertension was higher in DIS group. EIS was associated with lower length of stay and total hospitalization cost. In-hospital mortality and pacemaker implantation rates were not significantly different between patients in the EIS and DIS groups.Conclusion: HDAVB is a rare complication of NSTEMI and often associated with right coronary artery disease. The timing of revascularization does not appear to influence the rate of pacemaker placement in NSTEMI complicated by HDAVB. Further studies are needed to assess if early invasive strategy can benefit all patients with NSTEMI and HDAVB.
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Bloqueio Atrioventricular , Infarto do Miocárdio sem Supradesnível do Segmento ST , Intervenção Coronária Percutânea , Infarto do Miocárdio com Supradesnível do Segmento ST , Humanos , Bloqueio Atrioventricular/complicações , Bloqueio Atrioventricular/terapia , Bloqueio Atrioventricular/epidemiologia , Infarto do Miocárdio sem Supradesnível do Segmento ST/complicações , Infarto do Miocárdio sem Supradesnível do Segmento ST/terapia , Fatores de Risco , Hospitalização , Intervenção Coronária Percutânea/efeitos adversos , Resultado do TratamentoRESUMO
The evolving breadth and complexity of the contemporary pediatric cardiology specialty requires regular, systematic analysis of the practice to ensure that training and certification requirements address the demands of real-world clinical experience. We report the process of the American Board of Pediatrics (ABP) for conducting such a practice analysis and revising the test content outline (TCO) for the pediatric cardiology subspecialty certification exam. A panel of 15 pediatric cardiologists conducted seven 2-h virtual meetings, during which they identified 37 unique tasks that represent the work a pediatric cardiologist may reasonably expect to perform within the first 5 years after training. These tasks were grouped into nine performance domains, similar to the entrustable professional activities (EPA), previously endorsed by the ABP in collaboration with the pediatric cardiology education community, and which represent the critical activities of the profession. The panel then enumerated the knowledge, skills, and abilities necessary to perform each task. These deliberations resulted in two work products: a practice analysis document (PAD) and subspecialty board TCO based on testable knowledge, skills, and abilities. Survey assessments of the panel's work were then distributed to pediatric cardiology fellowship program directors and to practicing pediatric cardiologists for their input, which largely aligned with the panel's recommendations. Survey responses were considered in the final revisions of the PAD and TCO. This approach to practice analysis proved to be an efficient process for describing the work performed by today's pediatric cardiologists and the knowledge, skills, and abilities needed to competently perform that work.
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Cardiologia , Pediatria , Humanos , Estados Unidos , Criança , Certificação , Competência Clínica , Currículo , Cardiologia/educação , Pediatria/educaçãoRESUMO
Chromosome 1p36 deletion syndrome is a common genetic anomaly (prevalence: 1 in 5,000-1 in 10,000). Despite reports of cardiovascular involvement, the cardiovascular phenotypic spectrum of patients with 1p36 deletion syndrome is not well characterized. In this article, we reported the clinical course of a full-term African American boy with chromosome 1p36 deletion syndrome and neonatal onset of severe cardiac disease with moderate-to-severe biventricular dysfunction and severe pulmonary hypertension. Early neonatal onset presentation of 1p36 deletion syndrome is rare and might be associated with a more guarded prognosis. This case based study is supplemented by a comprehensive review of cardiovascular involvement in this relatively common genetic syndrome.
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Atrial fibrillation (AF) is an increasingly common arrhythmia encountered in clinical practice that leads to a substantial increase in utilization of healthcare services and a decrease in the quality of life of patients. The prevalence of AF will continue to increase as the population ages and develops cardiac comorbidities; thus, prompt and effective treatment is important to help mitigate systemic resource utilization. Treatment of AF involves two tenets: prevention of stroke and systemic embolism and symptom control with either a rate or a rhythm control strategy. Historically, due to the safe nature of medications like beta-blockers and non-dihydropyridine calcium channel blockers, used in rate control, it has been the initial strategy used for symptom control in AF. Newer data suggest that a rhythm control strategy with antiarrhythmic medications with or without catheter ablation may lead to a reduction in major adverse cardiovascular events, particularly in patients newly diagnosed with AF. Modulation of factors that promote AF or its complications is another important aspect of the overall holistic management of AF. This review provides a comprehensive focus on the management of patients with AF and an in-depth review of pharmacotherapy of AF in the rate and rhythm control strategies.
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Fibrilação Atrial , Ablação por Cateter , Acidente Vascular Cerebral , Antiarrítmicos/efeitos adversos , Fibrilação Atrial/complicações , Ablação por Cateter/efeitos adversos , Humanos , Qualidade de Vida , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/prevenção & controleRESUMO
PURPOSE: Cryptogenic strokes account for 40% of ischemic strokes. Atrial fibrillation (AF) is a known cause of stroke. Current data shows that occult AF is detected by implantable devices at higher rates than conventional monitoring. The objective of this study was to investigate risk factors and outcomes associated with AF detection by implantable loop recorders (ILRs) in patients with cryptogenic stroke. METHODS: We conducted a retrospective study of 172 patients admitted with cryptogenic stroke at Ascension St John and Macomb-Oakland Hospitals who had ILRs placed from 1/1/2016 to 1/31/2020. AF detection was defined as sustained AF for 30 s. RESULTS: The incidence of AF detection by ILR was 14% (24/172) over a mean follow-up of 12.75 ± 10.71 months. The mean duration of monitoring prior to AF detection was 4.5 months. The median duration of AF was 6 min. With univariable analysis, older age (p = 0.03), male sex (p = 0.09), embolic stroke pattern on imaging (p = 0.06), and presence of symptoms (p = 0.001) were associated with AF detection. Using multivariable analysis, patients with AF were more likely to be older (OR = 1.04, p = 0.04), male (OR = 3.6, p = 0.03), symptomatic (OR = 6.3, p = 0.01), and had embolic stroke pattern (OR = 3.3, p = 0.04). 95.8% of patients with AF were started on anticoagulation for secondary stroke prevention. CONCLUSION: In patients with cryptogenic stroke, age, sex, stroke pattern, and presence of AF symptoms are independent predictors of AF detection by ILR. Most patients with AF were started on anticoagulation for secondary stroke prevention.