Rachelle E Srinivas, Lydia K Wright, Deipanjan Nandi, Emily A Hayes
{"title":"A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis.","authors":"Rachelle E Srinivas, Lydia K Wright, Deipanjan Nandi, Emily A Hayes","doi":"10.4103/apc.apc_122_23","DOIUrl":"10.4103/apc.apc_122_23","url":null,"abstract":"<p><p>Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac death. This cardiomyopathy can have variable clinical presentations, especially in the pediatric and young adult populations. In this report, we describe the case of an 18-year-old female with myocarditis as the initial presentation of ACM. She presented following a resuscitated cardiac arrest due to ventricular arrhythmia. On arrival, myocardial edema and delayed gadolinium enhancement were present on cardiac magnetic resonance imaging, with no ventricular changes observed, making the diagnosis consistent with myocarditis. Genetic testing revealed a pathogenic mutation in the desmoplakin gene consistent with ACM. Given the unconventional initial presentation of this patient's disease, early consideration of genetic testing may be beneficial to aid in the early diagnosis and management of ACM in young patients.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141454776","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}
Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar
{"title":"Coronary arteriopathy in a patient with Noonan phenotype: Case report.","authors":"Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar","doi":"10.4103/apc.apc_145_23","DOIUrl":"10.4103/apc.apc_145_23","url":null,"abstract":"<p><p>Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141454780","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}
Nayani Makkar, Jyothi Vijay, P Abhilash Sreevilasam, Narayanan Namboodiri
{"title":"Cryoablation for the Para-Hisian accessory pathway: Early Indian experience.","authors":"Nayani Makkar, Jyothi Vijay, P Abhilash Sreevilasam, Narayanan Namboodiri","doi":"10.4103/apc.apc_182_23","DOIUrl":"10.4103/apc.apc_182_23","url":null,"abstract":"","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141454781","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":"Is it time to consider a population health approach and health policy planning in pediatric cardiac workforce planning?","authors":"Bistra Zheleva, Veeralakshmi Rajasekhar","doi":"10.4103/apc.apc_171_23","DOIUrl":"10.4103/apc.apc_171_23","url":null,"abstract":"","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178301","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":"Unveiling post-MIS-N cardiomyopathy by longitudinal multimodality global cardiac assessment from neonatal insult to 16-month follow-up.","authors":"Maitri Chaudhuri, Munesh Tomar, Balasubramanyam Shankar","doi":"10.4103/apc.apc_114_23","DOIUrl":"10.4103/apc.apc_114_23","url":null,"abstract":"<p><p>A full-term male neonate presented on the 11<sup>th</sup> day of life with late-onset multisystem inflammatory syndrome-neonate (MIS-N) (cardioneurological compromise). Immediate anti-inflammatory modulation led to a gradual recovery of neurological and coronary lesions. However, temporal evaluation unmasked silent myocardial dysfunction in echocardiography validated further by elevated biomarkers, myocardial fibrosis in cardiac magnetic resonance imaging, and abnormal strain study persisting till 16 months of follow-up. This revealed a hitherto unknown and rare progression of MIS-N into dilated cardiomyopathy.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178538","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}
Saikiran Kakarla, Deepa Sasikumar, Harikrishnan K N Kurup, Jineesh Valakkada
{"title":"Normal pulmonary venous drainage in the setting of total anomalous pulmonary venous connection.","authors":"Saikiran Kakarla, Deepa Sasikumar, Harikrishnan K N Kurup, Jineesh Valakkada","doi":"10.4103/apc.apc_183_21","DOIUrl":"10.4103/apc.apc_183_21","url":null,"abstract":"<p><p>Total anomalous pulmonary venous connection (TAPVC) and anomalous pulmonary venous drainage are not synonymous. This has been described in the setting of right isomerism (bilateral right sidedness) where the pulmonary veins are connected anomalously but drain normally to the left-sided morphological right atrium. We describe another situation in right isomerism where normal pulmonary venous drainage is present in the setting of TAPVC.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178488","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}
Joshua T Fields, Conor P O'Halloran, Paul Tannous, Brock A Karolcik, Scott M Bradley, Minoo N Kavarana, John F Rhodes, Eric M Graham, John M Costello
{"title":"Differences in outcomes between surgical pericardial window and pericardiocentesis in children with postpericardiotomy syndrome.","authors":"Joshua T Fields, Conor P O'Halloran, Paul Tannous, Brock A Karolcik, Scott M Bradley, Minoo N Kavarana, John F Rhodes, Eric M Graham, John M Costello","doi":"10.4103/apc.apc_108_23","DOIUrl":"10.4103/apc.apc_108_23","url":null,"abstract":"<p><p>Children with postpericardiotomy syndrome may develop hemodynamically significant pericardial effusions warranting drainage by surgical pericardial window or pericardiocentesis. The optimal approach is unknown. We performed a retrospective observational study at two pediatric cardiac centers. We included 42 children aged <18 years who developed postpericardiotomy syndrome following cardiac surgery between 2014 and 2021. Thirty-two patients underwent pericardial window and 10 underwent pericardiocentesis. Patients in the pericardial window group presented with postpericardiotomy syndrome sooner than those who underwent pericardiocentesis (median 7.5 days vs. 14.5 days, <i>P</i> = 0.03) and tended to undergo earlier intervention (median 8 days vs. 16 days, <i>P</i> = 0.16). No patient required subsequent drainage. There were no differences between groups in days of pericardial tube duration (median 4 days), complications, and subsequent days of intensive care or hospitalization. For children with postpericardiotomy syndrome with a pericardial effusion warranting drainage, these data suggest that pericardial window and pericardiocentesis have similar efficacy, safety, and resource utilization.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178241","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}
Anthony Siu, Edelyne Tandanu, Brian Ma, Evbayekha Endurance Osas, Haipeng Liu, Tong Liu, Oscar Hou In Chou, Helen Huang, Gary Tse
{"title":"Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.","authors":"Anthony Siu, Edelyne Tandanu, Brian Ma, Evbayekha Endurance Osas, Haipeng Liu, Tong Liu, Oscar Hou In Chou, Helen Huang, Gary Tse","doi":"10.4103/apc.apc_96_23","DOIUrl":"10.4103/apc.apc_96_23","url":null,"abstract":"<p><p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providing novel insights into the molecular mechanisms. However, more data on atypical CPVT genotypes are required to investigate the underlying mechanisms further. The complexities of the underlying genetics contribute to challenges in risk stratification as well as the uncertainty surrounding nongenetic modifiers. Therapeutically, although medical management involving beta-blockers and flecainide, or insertion of an implantable cardioverter defibrillator remains the mainstay of treatment, animal and stem cell studies on gene therapy for CPVT have shown promising results. However, its clinical applicability remains unclear. Current gene therapy studies have primarily focused on the RyR2 and CASQ-2 variants, which constitute 75% of all CPVT cases. Alternative approaches that target a broader population, such as CaMKII inhibition, could be more feasible for clinical implementation. Together, this review provides an update on recent research on CPVT, highlighting the need for further investigation of the molecular mechanisms, risk stratification, and therapeutic management of this potentially lethal condition.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178512","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}
Salem Deraz, Olfat Alzaabi, Anshad Ummerkhan, Sidra Abdul Hakeem, Hamza Elnady, Ahmed Al Kamali
{"title":"Partial anomalous systemic venous drainage, right superior vena cava to the left atrium in nonisomeric patient.","authors":"Salem Deraz, Olfat Alzaabi, Anshad Ummerkhan, Sidra Abdul Hakeem, Hamza Elnady, Ahmed Al Kamali","doi":"10.4103/apc.apc_93_23","DOIUrl":"10.4103/apc.apc_93_23","url":null,"abstract":"<p><p>The most encountered anomalous systemic venous drainage is a persistent left superior vena cava that drains into the right atrium through the coronary sinus. A much rarer anomalous systemic venous drainage is that of isolated anomalous drainage of a normally positioned right superior vena cava (RSVC) into the left atrium (LA). This has been reported in approximately 20 patients, with the diagnosis usually made by cardiac catheterization. We report the youngest case diagnosed at the age of 3 h after birth with hypoxemia resulting from anomalous drainage of a normal RSVC into the LA. This was diagnosed noninvasively by echocardiography and confirmed by cardiac computed tomography angiography.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178495","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}
Jaganmohan A Tharakan, Rajesh Sharma, Raghavan Subramanyan, Anita Saxena, Snehal M Kulkarni, Jay Relan, Sivasubramanian Ramakrishnan
{"title":"Pediatric cardiology in India - In search of a holistic solution.","authors":"Jaganmohan A Tharakan, Rajesh Sharma, Raghavan Subramanyan, Anita Saxena, Snehal M Kulkarni, Jay Relan, Sivasubramanian Ramakrishnan","doi":"10.4103/apc.apc_58_24","DOIUrl":"10.4103/apc.apc_58_24","url":null,"abstract":"<p><p>In response to the survey among early career pediatric cardiologists from India and the accompanying editorial, we invited comments and suggestions from thought leaders and senior functionaries in the field. We have summarized the thoughts and suggestions as a mini-symposium.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11135892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141178505","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}