Addressing comprehensive complexities a striking familial hypercholesterolemia case study

Background 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, premat...

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Veröffentlicht in:The Egyptian heart journal 2024-04, Vol.76 (1), p.51-51, Article 51
Hauptverfasser: Rasheed, Shazia, Kubra, Ghulam, Baqai, Lubna, Raza, Muhammad Liaquat, Hassan, Fariha, Rizvi, Syed Ghazi Abbas
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Sprache:eng
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Zusammenfassung:Background 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. Case presentation 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. Conclusion 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.
ISSN:2090-911X
1110-2608
2090-911X
DOI:10.1186/s43044-024-00483-5