{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T16:11:43Z","timestamp":1770912703977,"version":"3.50.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Egypt Heart J"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Premature aortic involvement and comprehensive management strategies in familial hypercholesterolemia familial hypercholesterolemia (FH), a rare autosomal dominant genetic disorder, poses significant challenges due to its propensity for elevated low-density lipoprotein cholesterol, premature coronary heart disease, and vascular atherosclerosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Unraveling Cardiovascular Complexities: A Striking Familial Hypercholesterolemia. This case study delves into a remarkable instance of FH in a 16-year-old female who presented with chest pain and worsening dyspnea. Diagnostic evaluation revealed distinct electrocardiographic changes, elevated troponin levels, and profound dyslipidemia. Remarkable findings on transthoracic echocardiography, computed tomography angiography, and catheterization prompted multidisciplinary interventions and demonstrated remarkable enhancements in ventricular function, mitral regurgitation, and aortic stenosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The case study underscores the urgency of comprehensive management strategies in confronting the myriad challenges of FH, emphasizing the value of early intervention, innovative therapies, and rigorous imaging modalities for unraveling the intricate cardiovascular manifestations of this condition.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s43044-024-00483-5","type":"journal-article","created":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T02:54:09Z","timestamp":1713668049000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Addressing comprehensive complexities a striking familial hypercholesterolemia case study"],"prefix":"10.1186","volume":"76","author":[{"given":"Shazia","family":"Rasheed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghulam","family":"Kubra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubna","family":"Baqai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4487-5223","authenticated-orcid":false,"given":"Muhammad Liaquat","family":"Raza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fariha","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Ghazi Abbas","family":"Rizvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"483_CR1","doi-asserted-by":"publisher","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","volume":"34","author":"BG Nordestgaard","year":"2013","unstructured":"Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS et al (2013) Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 34:3478\u20133900a","journal-title":"Eur Heart J"},{"key":"483_CR2","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1016\/S0140-6736(12)62127-8","volume":"381","author":"PJ Talmud","year":"2013","unstructured":"Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA et al (2013) Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 381:1293\u20131301","journal-title":"Lancet"},{"key":"483_CR3","first-page":"612","volume":"62","author":"S Qaiser","year":"2012","unstructured":"Qaiser S, Sheikh S, Malik MS (2012) Homozygous Familial Hypercholestrolaemia presents with supravalvular aortic stenosis. J Pak Med Assoc 62:612\u2013614","journal-title":"J Pak Med Assoc"},{"issue":"13","key":"483_CR4","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.905941","volume":"27","author":"WJ Loh","year":"2022","unstructured":"Loh WJ, Chan DC, Mata P, Watts GF (2022) Familial hypercholesterolemia and elevated lipoprotein(a): cascade testing and other implications for contextual models of care. Front Genet 27(13):905941. https:\/\/doi.org\/10.3389\/fgene.2022.905941","journal-title":"Front Genet"},{"key":"483_CR5","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1161\/ATVBAHA.116.307514","volume":"36","author":"L Perez de Isla","year":"2016","unstructured":"Perez de Isla L, Alonso R, Mata N, Saltijeral A, Muniz O, Rubio-Marin P et al (2016) Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia: insights from the SAFEHEART registry (Spanish Familial Hypercholesterolaemia Cohort Study). Arterioscler Thromb Vasc Biol. 36:2004\u20132010","journal-title":"Arterioscler Thromb Vasc Biol."},{"key":"483_CR6","doi-asserted-by":"publisher","first-page":"2167","DOI":"10.1161\/CIR.0000000000000297","volume":"132","author":"SS Gidding","year":"2015","unstructured":"Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW et al (2015) The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation 132:2167\u20132192","journal-title":"Circulation"},{"key":"483_CR7","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1038\/ncpcardio0836","volume":"4","author":"AK Soutar","year":"2007","unstructured":"Soutar AK, Naoumova RP (2007) Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 4:214\u2013225","journal-title":"Nat Clin Pract Cardiovasc Med"},{"issue":"8","key":"483_CR8","doi-asserted-by":"publisher","first-page":"410","DOI":"10.3345\/cep.2021.00598","volume":"65","author":"NM El-Koofy","year":"2022","unstructured":"El-Koofy NM, Fattouh AM, Ramadan A, Elmonem MA, Hamed DH (2022) Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population. Clin Exp Pediatr 65(8):410\u2013416. https:\/\/doi.org\/10.3345\/cep.2021.00598","journal-title":"Clin Exp Pediatr"},{"key":"483_CR9","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.ejcts.2005.11.001","volume":"29","author":"S Saito","year":"2006","unstructured":"Saito S, Usui A, Akita T, Ueda Y (2006) Surgery for calcific aortic stenosis in homozygous familial hypercholesterolemia. Eur J Cardiothorac Surg 29:114\u2013116","journal-title":"Eur J Cardiothorac Surg"},{"key":"483_CR10","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/S1010-7940(00)00456-5","volume":"18","author":"T Yasuda","year":"2000","unstructured":"Yasuda T, Kawasuji M, Sakakibara N, Watanabe Y (2000) Aortic valve replacement for the calcified aorta in homozygous familial hypercholesterolemia. Eur J Cardiothorac Surg 18:249\u2013250","journal-title":"Eur J Cardiothorac Surg"}],"container-title":["The Egyptian Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43044-024-00483-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s43044-024-00483-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43044-024-00483-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T02:55:45Z","timestamp":1713668145000},"score":1,"resource":{"primary":{"URL":"https:\/\/tehj.springeropen.com\/articles\/10.1186\/s43044-024-00483-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,20]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["483"],"URL":"https:\/\/doi.org\/10.1186\/s43044-024-00483-5","relation":{},"ISSN":["2090-911X"],"issn-type":[{"value":"2090-911X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,20]]},"assertion":[{"value":"10 April 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"As per institutional guidelines (aligned with Helsinki Declaration), all studies on human subject and use of their data have been approved institutional committee of NICVD, Karachi. Informed consent secured from patients for the fair use in teaching and research.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent secured for publication and the fair use in teaching and research.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"51"}}