PROGRESS IN PEDIATRIC CARDIOLOGY最新文献

{"title":"Salmonella endocarditis in an immunocompetent 8-year-old with a mechanical aortic valve: A case report and literature review","authors":"Tamo Sultan ,&nbsp;Claus Moser ,&nbsp;Morten Holdgaard Smerup ,&nbsp;Lars Idorn","doi":"10.1016/j.ppedcard.2024.101739","DOIUrl":"https://doi.org/10.1016/j.ppedcard.2024.101739","url":null,"abstract":"<div><p>Salmonella infections are prevalent globally and cause invasive infections in adults and children alike. Here, we present a rare case report and literature review based on a complicated presentation of <em>S. enteritidis</em> endocarditis in an immunocompetent 8-year-old child with a mechanical aortic valve. The child initially presented with gastrointestinal symptoms, leading to an 11-day hospitalization for gastroenteritis and bacteremia caused by Salmonella. After a 1.5-week hospitalization, receiving intravenous Ceftriaxone and oral Ciprofloxacin, the child was discharged and underwent another week of treatment. Two weeks post-discharge, recurrent fever led to rehospitalization. During this admission, the diagnosis of infective endocarditis was made, revealing complications including pseudoaneurysms and aortic root abscesses. This diagnosis necessitated cardiac surgery and an extended course of antibiotic treatment for an additional seven weeks. The child made a full recovery and was well at follow up. This is the twelfth reported case of Salmonella endocarditis in a child. The overall mortality rate of Salmonella Endocarditis in children is approximately 50 %, and it predominantly affects males. Though rare, Salmonella endocarditis can lead to severe cardiovascular complications. Therefore, it is important to maintain a high index of suspicion for endocarditis when risk factors are present and promptly initiate treatment.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1058981324000377/pdfft?md5=2f63eb9434e033a699b2ed93dc80f6b6&pid=1-s2.0-S1058981324000377-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141484005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of long lasting pulmonary arterial hypertension on the surgery of congenital heart defect","authors":"Fouad Nya ,&nbsp;Sara Ahchouch ,&nbsp;Houda Mokhlis ,&nbsp;Rachida Amri ,&nbsp;El arbi Bouaiti ,&nbsp;Mehdi Bamous","doi":"10.1016/j.ppedcard.2024.101737","DOIUrl":"10.1016/j.ppedcard.2024.101737","url":null,"abstract":"<div><h3>Background</h3><p>Little is known about the management of this high-risk subgroup of patients because only a few small retrospective studies were available in the literature.</p></div><div><h3>Objectives</h3><p>This study was designed to identify the determinants of post operative mortality and to assess during 10 years follow-up functional and hemodynamic variables for children presenting at surgery with pulmonary vascular disease associated with congenital heart defect.</p></div><div><h3>Methods</h3><p>This is a prospective study that enrolled children with pulmonary arterial hypertension associated with congenital heart disease and presenting beyond the optimal time frame for surgery. Inclusion criteria were late presentation for surgery and severe pulmonary arterial hypertension, defined as mean pulmonary arterial pressure &gt; 50 mmhg. An univariable analysis, receiver operating characteristic curves, and Kaplan-Meier curves were used for survival analysis.</p></div><div><h3>Results</h3><p>75 patients underwent repair of their cardiac lesions. The operative mortality rate was 16%(12 patients); 43 patients (57 %) had right heart catheterization, and all of them were positive for acute vasodilatatory challenge (NO, oxygen). In the postoperative period, 32 % of patients had pulmonary hypertensive crisis, and 72 % had right heart failure. During follow-up, pulmonary arterial hypertension subclass 4 was present in 5% of our patients.</p></div><div><h3>Conclusion</h3><p>Our study indicated that for operable patients but beyond the optimal time frame the surgical mortality remained high despite using iNO. However, for those who survived they achieved good results in functional exercise, their PAP dropped to normal level and small proportion had persistent pulmonary arterial hypertension encouraging surgical closure of the defect.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141415723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of current pediatric electrocardiogram (ECG) interpretation practices","authors":"Tracy Marrs Conner ,&nbsp;Sriketan Tamirisa ,&nbsp;Lisa M. Roelle ,&nbsp;Nathan Miller ,&nbsp;Anthony Pompa ,&nbsp;William B. Orr ,&nbsp;Jenifer N. Avari Silva","doi":"10.1016/j.ppedcard.2024.101738","DOIUrl":"10.1016/j.ppedcard.2024.101738","url":null,"abstract":"<div><h3>Background</h3><p>Despite improvements in digital electrocardiograms (ECGs), current standard of care requires physician confirmation. Mismatched expectations between ordering providers and ECG readers, often pediatric cardiologists and electrophysiologists (EPs), are common, especially since there are no standardized practices for pediatric ECG reading.</p></div><div><h3>Objectives</h3><p>The aim of this study was to understand current practices in pediatric ECG reading.</p></div><div><h3>Methods</h3><p>An electronic survey was sent to members of the Pediatric and Congenital Electrophysiology Society (PACES). Participation was optional; results were recorded from 12/19/22–1/9/23. Only complete and non-duplicate entries were included.</p></div><div><h3>Results</h3><p>A total of 127 responses were received, 93 were analyzed. Most responses were from centers in North America (<em>n</em> = 65, 70 %), including the US (<em>n</em> = 58, 62 %), Canada (n = 6, 6 %), and Mexico (<em>n</em> = 1, 1 %). The remaining were from Europe (<em>n</em> = 18, 19 %), Asia (<em>n</em> = 7, 8 %), Australia (<em>n</em> = 2, 2 %), and South America (n = 1, 1 %). Most (<em>n</em> = 46, 49 %) were from small centers (0–25 ECGs read per day), 27 respondents (29 %) were from medium centers (26–50 ECGs read per day), 20 respondents (22 %) were from large centers (&gt;50 ECGs read per day). The majority (<em>n</em> = 65, 70 %) reported &gt;3 readers/day for inpatient and emergency department ECGs. 49 % (<em>n</em> = 46) of centers read ECGs &gt;2 times/day on weekdays with more variable practice on weekends. For critical/time sensitive findings, most centers (<em>n</em> = 90, 97 %) used verbal communication +/− the EMR. There was consensus (≥50 % agreement) that the following findings are critical/time sensitive: QTc &gt;500 ms, T-wave alternans, narrow complex tachycardia, wide complex tachycardia, pre-excited atrial fibrillation, focal ischemic changes, second degree heart block type II, complete heart block, and pacemaker malfunction.</p></div><div><h3>Conclusion</h3><p>Reading practices are variable. Critical/time sensitive findings are most often communicated verbally, however, there is no agreed upon standard. There was consensus in critical/time-sensitive findings. Improved understanding of common practices and resource allocation may lead to increased consistency in pediatric ECG reading.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1058981324000365/pdfft?md5=38e73dea2fada648840cccad6ddc74ea&pid=1-s2.0-S1058981324000365-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141406101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful use of MITRIS RESILIA mitral valve in pediatric patients","authors":"Donald Mattia ,&nbsp;Mohamad Alaeddine ,&nbsp;Daniel Velez","doi":"10.1016/j.ppedcard.2024.101736","DOIUrl":"https://doi.org/10.1016/j.ppedcard.2024.101736","url":null,"abstract":"<div><p>Here, we demonstrate the capability of implanting the MITRIS RESILIA mitral valve in pediatric patients with severe mitral valve disease requiring mitral valve replacement. The MITRIS RESILIA valve is a bioprosthetic valve with a unique design allowing for improved physiological flow dynamics (minimizing left ventricular outflow obstruction) and potential for future valve-in-valve intervention. We retrospectively analyzed two cases: a 9-year-old with rheumatic heart disease and a 12-year-old with juvenile idiopathic arthritis-related mitral valve deterioration. Both patients underwent successful mitral valve replacement with the MITRIS RESILIA valve, demonstrating significant postoperative improvement in valve function and symptom relief. Follow-up echocardiograms 1 year later showed stable valve function with no significant regurgitation or stenosis, indicating satisfactory short-term outcomes.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141323633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reintervention after ascending–descending aortic bypass for coarctation of the aorta in adulthood","authors":"Toshi Maeda,&nbsp;Kosuke Yoshizawa,&nbsp;Otohime Mori","doi":"10.1016/j.ppedcard.2024.101735","DOIUrl":"https://doi.org/10.1016/j.ppedcard.2024.101735","url":null,"abstract":"<div><p>Prior to the establishment of a subclavian flap or end–to–end anastomosis, an ascending–descending aortic bypass was conducted to address coarctation of the aorta. Although good results for ascending-descending bypass have been reported in adulthood, reports about its long-term complications after repair in childhood are scarce. We performed reintervention in two adult patients with aneurysmal formation who underwent ascending–descending aortic bypass in childhood. Anatomical repair was performed through median sternotomy with deep hypothermic circulatory arrest. Case 1 is doing well 13 years postoperatively, whereas Case 2 died 4 months postoperatively due to hepatic failure. Close observation is imperative, and early reintervention is necessary when aneurysmal formation is observed.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141323634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcatheter closure of congenital extrahepatic portosystemic shunt to right atrium causing severe pulmonary hypertension in a child: A case report","authors":"Samir Shakya ,&nbsp;Dinesh Chataut ,&nbsp;Sharma Paudel ,&nbsp;Ratna Mani Gajurel","doi":"10.1016/j.ppedcard.2024.101729","DOIUrl":"https://doi.org/10.1016/j.ppedcard.2024.101729","url":null,"abstract":"<div><p>Congenital extrahepatic portosystemic shunt is an abnormal connection between portal vein (prior to its branching) and one of the systemic veins. It is a rare cause of pulmonary hypertension. We report a 2-year-old child who presented with severe pulmonary artery hypertension and a unique form of congenital extrahepatic portosystemic shunt draining directly into right atrium. The shunt was successfully closed percutaneously, and pulmonary artery pressure fell from severe pulmonary artery hypertension to moderate pulmonary artery hypertension on follow up.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141243144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving COVID-19 disease severity surveillance measures: The case for implementing accessible screening to protect high-risk populations","authors":"Daniel F. Maywalt ,&nbsp;Secil Ertorer ,&nbsp;Steven E. Lipshultz","doi":"10.1016/j.ppedcard.2024.101734","DOIUrl":"https://doi.org/10.1016/j.ppedcard.2024.101734","url":null,"abstract":"<div><h3>Background</h3><p>The COVID-19 pandemic disproportionately affected minority groups and people of low socioeconomic status, necessitating early identification of high-risk populations.</p></div><div><h3>Objectives</h3><p>We sought to investigate the varying effects of COVID-19 on low-income and high-diversity areas of Buffalo, NY. Our goal was to demonstrate the feasibility of real-time surveillance in identifying COVID-19-infected high-risk populations during an active pandemic, to indicate how this approach may be used to reduce morbidity among all high-risk populations, including children with heart disease.</p></div><div><h3>Methods</h3><p>We assessed rates of poverty and diversity for the 17 ZIP Codes in Buffalo, NY, and characterized each as high- or low-ethnic diversity and high- or low-income. Independent sample <em>t</em>-tests were conducted to compare COVID-19 positive tests and hospitalizations for high- and low-diversity and high- and low-income categories.</p></div><div><h3>Results</h3><p>The percentage of positive COVID-19 tests did not differ significantly between the high- and low-diversity ZIP Codes (4.1 % and 2.8 % respectively; difference, 466 positive tests; <em>P</em> = 0.22) or between the high- and low-income ZIP Codes (4.3 % and 2.8 % respectively; difference, 539 tests; <em>P</em> = 0.14). Among the 3161 patients hospitalized for COVID-19 between May 2nd and November 19th, 2020, the percentage differed significantly between the high- and low-diversity ZIP Codes (1.4 % and 0.9 % respectively; difference, 154 patients; <em>P</em> = 0.04) and between the high- and low-income ZIP Codes (1.5 % and 0.9 % respectively, difference, 1633 patients; <em>P</em> = 0.01).</p></div><div><h3>Conclusion</h3><p>Despite similar rates of positive COVID-19 tests, residents of low-income neighborhoods were at higher risk (67 % higher) for COVID-19 hospitalizations than were residents of high-income neighborhoods. Likewise, residents of high diversity neighborhoods were at a 56 % greater risk of COVID-19 hospitalization when compared with residents of low diversity neighborhoods. This study demonstrates that real-time data collection and analyses are available for identifying high-risk populations for COVID-19 hospitalizations. These findings could aid in optimizing early and intensive COVID-19 testing for high-risk groups, including pediatric cardiology patients, during both the current pandemic and future infectious disease outbreaks with the aim of reducing morbidity.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141289765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exercise capacity after COVID-related multisystem inflammatory syndrome in children-A cross-sectional study","authors":"Gulbadin Mufti ,&nbsp;Santhosh Shivabasappa ,&nbsp;Prabavathy Gopalakrishnan ,&nbsp;Jaikumar G. Ramamoorthy ,&nbsp;Sandhiya Selvarajan ,&nbsp;Raja J. Selvaraj ,&nbsp;Santhosh Satheesh ,&nbsp;Sridhar Balaguru ,&nbsp;Bhagwati Prasad Pant ,&nbsp;Avinash Anantharaj","doi":"10.1016/j.ppedcard.2024.101733","DOIUrl":"10.1016/j.ppedcard.2024.101733","url":null,"abstract":"<div><h3>Background</h3><p>After recovery from COVID-19 associated multisystem inflammatory syndrome in children (MISC), exercise restrictions were advised for 6 months. Studies done to assess exercise capacity at 3–6 months post recovery from MISC, prior to withdrawal of exercise restrictions, yielded varying information. Whether their exercise capacity was on par with their peers at/beyond 1-year post-recovery needed to be assessed.</p></div><div><h3>Objectives</h3><p>Primary: To compare the exercise capacity between children with a history of MISC and unaffected children</p><p>Secondary: To compare the exercise capacity between a) children with a history of MISC and children with a history of COVID but not MISC b) children with a history of COVID but not MISC and unaffected children.</p></div><div><h3>Methods</h3><p>Children (aged ≥8 years) who had recovered from MISC &gt;1-year ago (<em>n</em> = 21) were compared with unaffected children (<em>n</em> = 42) and children who had COVID but not MISC (n = 21) respectively using cardiopulmonary exercise testing (CPET). Comparisons were made between 1. Post-MISC vs unaffected 2. Post-MISC vs post-COVID 3. Post-COVID vs unaffected.</p></div><div><h3>Results</h3><p>Compared with unaffected children, post-MISC and post-COVID groups had similar peak oxygen uptake (VO₂ max) but significantly lesser exercise duration. Children who were very sick during their hospitalization for MISC had an exercise capacity comparable to others in the post-MISC group. Overweight/obese children in post-MISC group had a significantly lesser exercise capacity. But, the numbers of overweight/obese children and very sick children were not adequate to run a separate sub-group analysis.</p></div><div><h3>Conclusions</h3><p>At/beyond 1 year post-recovery from MISC, exercise capacity was comparable to healthy children and children who had COVID but not MISC, but exercise duration was significantly less. Overweight/obese children need to be followed up longer with emphasis on regular exercises. Children who were very sick during MISC hospitalization had recovered their exercise capacity.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141145445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of a mechanical crimper for mounting covered stents in aortic coarctation","authors":"Catalina Vargas-Acevedo ,&nbsp;Ernesto Mejia ,&nbsp;Yoshiyuki Kagiyama ,&nbsp;Natalie Soszyn ,&nbsp;Jenny E. Zablah ,&nbsp;Gareth J. Morgan","doi":"10.1016/j.ppedcard.2024.101730","DOIUrl":"10.1016/j.ppedcard.2024.101730","url":null,"abstract":"<div><h3>Background</h3><p>Despite the continued evolution in use of covered stents in congenital cardiology, no standard technique is available for crimping stents onto balloons.</p></div><div><h3>Objectives</h3><p>We aimed to describe the use of a mechanical crimper to mount covered stents and its effects on stent integrity, uniformity, and sheath size for intervention.</p></div><div><h3>Methods</h3><p>Single-center retrospective review of patients with coarctation of the aorta (CoA) and variants of arch obstruction undergoing stent angioplasty with covered stents between January 2019 and December 2022. Sheath size used for intervention was recorded and compared to the manufacturers' IFU. A bench testing model was then performed to confirm the decrease in sheath size by mechanically crimping six covered stents. Percent reduction in size after crimping, stent uniformity, and PTFE integrity after balloon inflation were recorded.</p></div><div><h3>Results</h3><p>Twenty-five events were identified for review. Median age at procedure was 18 years, and the most common diagnosis was isolated CoA (80 %). 76 % (n = 19) of stents were mechanically crimped, and 24 % (n = 6) were manually crimped. The median sheath size for mechanically crimped stents was −2 Fr compared with a median of 0 Fr for manually crimped stents (<em>p</em> = 0.007). Bench testing revealed a median 12.8 % reduction in stent diameter after mechanical crimping. All mechanically crimped stents were successfully introduced through sheaths 2 Fr smaller than the IFU.</p></div><div><h3>Conclusion</h3><p>The use of mechanical crimpers for mounting covered endovascular stents allows the delivery of these devices through smaller profile sheaths, facilitating intervention in smaller patients and reducing the risk of vascular access related injuries without affecting stent performance.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141145057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants","authors":"Teresa M. Lee ,&nbsp;Erin Miller ,&nbsp;Arthi Sridhar ,&nbsp;Xiao Fan ,&nbsp;Phillip J. Dexheimer ,&nbsp;Neha Bansal ,&nbsp;Justin Godown ,&nbsp;Daphne T. Hsu ,&nbsp;Paul Kantor ,&nbsp;Sonya Kirmani ,&nbsp;Ashwin K. Lal ,&nbsp;Joseph W. Rossano ,&nbsp;Jeffrey A. Towbin ,&nbsp;Steven A. Webber ,&nbsp;Ling Shi ,&nbsp;Taye H. Hamza ,&nbsp;Bruce J. Aronow ,&nbsp;Surbhi Bhatnaghar ,&nbsp;Lisa J. Martin ,&nbsp;Jeffrey Schubert ,&nbsp;Steven E. Lipshultz","doi":"10.1016/j.ppedcard.2024.101732","DOIUrl":"10.1016/j.ppedcard.2024.101732","url":null,"abstract":"<div><h3>Background</h3><p>Clinical genetic testing is increasingly being utilized to establish a molecular diagnosis to help manage children with cardiomyopathy and to assess the risk of cardiomyopathy among family members. However, as evidence and guidelines evolve, variant classification can change with the potential to impact counseling and family screening.</p></div><div><h3>Objectives</h3><p>The main purpose of this study was to investigate whether variants in cardiomyopathy genes previously interpreted by clinical genetic testing laboratories would be reclassified under current guidelines for the interpretation of sequence variants.</p></div><div><h3>Methods</h3><p>In 211 children enrolled in the Pediatric Cardiomyopathy Registry, we compared the results of previous clinical genetic testing with the results of research testing in 37 cardiomyopathy genes.</p></div><div><h3>Results</h3><p>The mean time difference between initial testing and reinterpretation was 7 years. Using the 2015 American College of Medical Genetics and Genomics guidelines for the interpretation of sequence variants, we found that 18 % of the tested population had a change in variant classification. Ninety-two percent of the initial classifications were performed before the publication of the guidelines, with 82 % of reclassifications resulting in a variant downgrade. Most of these were changes from the pathogenic or likely pathogenic category to a variant of uncertain significance. Reclassification frequency was similar across types of cardiomyopathy.</p></div><div><h3>Conclusion</h3><p>Our results highlight that a portion of variants get downgraded, and periodic reinterpretation of genetic testing results is necessary for all types of cardiomyopathy—particularly for variant interpretations prior to 2015. Importantly, variant reclassification has potential impact on the clinical management of at-risk patients.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141143639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}