{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:48:43Z","timestamp":1753876123491,"version":"3.41.2"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Myocardial abnormalities are sometimes overlooked in congenital heart disease (CHD). The co-existence of hypertrophic cardiomyopathy is so uncommon that it is assumed to be a coincidence rather than an association.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 24-year-old gentleman, who was previously clinically well following a staged Fontan palliation for single-ventricle CHD, was transferred to our centre following an out-of-hospital cardiac arrest. He had return of spontaneous circulation after a period of cardiopulmonary resuscitation. Initial electrocardiogram showed sinus bradycardia. Computed tomography pulmonary angiography ruled out pulmonary embolism. Transthoracic echocardiography and cardiac magnetic resonance (CMR) demonstrated marked ventricular hypertrophy with no left ventricular outflow tract obstruction. Punctate areas of late gadolinium enhancement were noted in the basal septum, and T1 values were consistent with fibrosis. Cardiac catheterization demonstrated low Fontan pressures and normal coronaries. Ventricular tachycardia rapidly degenerating into ventricular fibrillation was induced during electrophysiological studies. Genetic testing demonstrated a pathogenic cardiac myosin-binding protein C variant consistent with co-existent hypertrophic cardiomyopathy. Bisoprolol was initiated and a subcutaneous implantable cardiac defibrillator implanted 4 weeks after his initial presentation. Two years on, he remains well with no therapies from his defibrillator. As well as Fontan surveillance, cascade testing, exercise prescription, and pre-conception counselling were addressed during follow-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>In CHD, ventricular hypertrophy may relate to congenital or acquired systemic outflow tract obstruction. Contemporary CMR techniques combined with genetic testing can be useful in differentiating between hypertrophy caused by congenital anomaly vs. concurrent cardiomyopathies. Multidisciplinary expertise is critical for accurate diagnosis and optimal care.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae038","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T02:06:22Z","timestamp":1706061982000},"source":"Crossref","is-referenced-by-count":0,"title":["A case report of complex congenital heart disease co-existing with hypertrophic cardiomyopathy"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8535-6406","authenticated-orcid":false,"given":"Kuldeepa","family":"Veeratterapillay","sequence":"first","affiliation":[{"name":"Adult Congenital Heart Unit, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline J","family":"Coats","sequence":"additional","affiliation":[{"name":"West of Scotland Inherited Cardiac Conditions Service, Queen Elizabeth University Hospital , Glasgow , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruairidh","family":"Martin","sequence":"additional","affiliation":[{"name":"Adult Congenital Heart Unit, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bill","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Biosciences Institute, Newcastle University , Newcastle Upon Tyne , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Coats","sequence":"additional","affiliation":[{"name":"Adult Congenital Heart Unit, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK"},{"name":"Population Health Sciences Institute, Newcastle University , Newcastle Upon Tyne , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,1,23]]},"reference":[{"key":"2024022909523385400_ytae038-B1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10974-011-9268-3","article-title":"How do MYBPC3 mutations cause hypertrophic cardiomyopathy?","volume":"33","author":"Marston","year":"2012","journal-title":"J Muscle Res Cell Motil"},{"key":"2024022909523385400_ytae038-B2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1055\/s-0031-1293515","article-title":"Prenatal diagnosis and outcome of fetuses with double-inlet left ventricle","volume":"1","author":"Gidvani","year":"2011","journal-title":"AJP Rep"},{"key":"2024022909523385400_ytae038-B3","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1136\/hrt.40.9.1034","article-title":"Congenital heart disease associated with hypertrophic cardiomyopathy","volume":"40","author":"Somerville","year":"1978","journal-title":"Br Heart J"},{"key":"2024022909523385400_ytae038-B4","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.echo.2008.02.006","article-title":"Regression equations for calculation of z scores of cardiac structures in a large cohort of healthy infants, children and adolescents: an echocardiographic study","volume":"21","author":"Pettersen","year":"2008","journal-title":"J Am Soc Echocardiogr"},{"key":"2024022909523385400_ytae038-B5","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC Scientific Document Group, 2023 ESC Guidelines for the management of cardiomyopathies: developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"2024022909523385400_ytae038-B6","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0735-1097(84)80405-2","article-title":"Surgical repair of univentricular heart (double inlet left ventricle) with obstructed anterior subaortic outlet chamber","volume":"4","author":"Barber","year":"1984","journal-title":"J Am Coll Cardiol"},{"key":"2024022909523385400_ytae038-B7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.amjcard.2020.05.028","article-title":"Effect of stiffened and dilated ascending aorta on aerobic exercise capacity in repaired patients with complex congenital heart disease","volume":"129","author":"Hayama","year":"2020","journal-title":"Am J Cardiol"},{"key":"2024022909523385400_ytae038-B8","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1510\/icvts.2009.218594","article-title":"The Fontan circulation: who controls cardiac output?","volume":"10","author":"Gewillig","year":"2010","journal-title":"Interact Cardiovasc Thorac Surg"},{"key":"2024022909523385400_ytae038-B9","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1161\/CIRCULATIONAHA.105.592378","article-title":"Univentricular heart","volume":"115","author":"Khairy","year":"2007","journal-title":"Circulation"},{"key":"2024022909523385400_ytae038-B10","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1253\/circj.CJ-16-0353","article-title":"Myocardial fibrosis in congenital heart disease","volume":"80","author":"Rathod","year":"2016","journal-title":"Circ J"},{"key":"2024022909523385400_ytae038-B11","doi-asserted-by":"crossref","first-page":"120","DOI":"10.2463\/mrms.rev.2017-0145","article-title":"Cardiac MR imaging of hypertrophic cardiomyopathy: techniques, findings, and clinical relevance","volume":"17","author":"Amano","year":"2018","journal-title":"Magn Reson Med Sci"},{"key":"2024022909523385400_ytae038-B12","doi-asserted-by":"crossref","first-page":"e001224","DOI":"10.1136\/openhrt-2019-001224","article-title":"Atrial arrhythmias and thromboembolic complications in adults post Fontan surgery","volume":"7","author":"Wan","year":"2020","journal-title":"Open Heart"},{"key":"2024022909523385400_ytae038-B13","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/eurheartj\/ehaa554","article-title":"2020 ESC Guidelines for the management of adult congenital heart disease","volume":"42","author":"Baumgartner","year":"2021","journal-title":"Eur Heart J"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/advance-article-pdf\/doi\/10.1093\/ehjcr\/ytae038\/56346588\/ytae038.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/2\/ytae038\/56657110\/ytae038.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/2\/ytae038\/56657110\/ytae038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T09:53:10Z","timestamp":1709200390000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytae038\/7585865"}},"subtitle":[],"editor":[{"given":"Amardeep Ghosh","family":"Dastidar","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Abdelsalam","family":"Bensaaud","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,1,23]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytae038","relation":{},"ISSN":["2514-2119"],"issn-type":[{"type":"electronic","value":"2514-2119"}],"subject":[],"published-other":{"date-parts":[[2024,2]]},"published":{"date-parts":[[2024,1,23]]},"article-number":"ytae038"}}