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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.
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Introduction Transthoracic echocardiography (TTE) is the primary noninvasive imaging modality for quantitative and qualitative evaluation of cardiac anatomy and function. The Hyderabad satellite center of National Institute of Cardiovascular Diseases (NICVD), Pakistan has recently started its operations, including TTE; therefore, it is imperative to assess the initial experience for the process improvement of the center. Therefore, the aim of this clinical audit was to review our initial experience of TTE at this newly operational satellite center. Methods In this clinical audit, we reviewed the records of patient undergone TTE at the echocardiography department of NICVD Hyderabad satellite center from May 2018 to October 2018. Demographic characteristics, clinical history, indications for the TTE, and echocardiographic diagnoses were reviewed. Results A total of 2,177 TTE procedures were performed during the study period of six months out of which 68.7% (1,496) were performed in male patients. Mean age of the patients was 50.83 ± 12.44 years with 48.2% (1,050) patients above 50 years of age. The most frequent indication for the procedure was cardiomyopathy, 54.1% (1,177), among other indications, native valve regurgitation was in 49.8% (1,085), ischemic heart disease in 23.2% (504), heart murmurs in 17.3% (377), cardiac masses in 14.3% (312), pericardial disease in 8.5% (184), pulmonary disease in 7.3% (160), infective endocarditis in 6.4% (139), aortic and major disease in 6.3% (138), and native valve stenosis in 5.4% (177) of the patients. Procedures were performed before coronary artery revascularization in 2.2% (47) and for prosthetic valve assessment in 1.7% (38) patients. The TTE was normal in 36.6% (796) patients, while the most frequent diagnosis was cardiomyopathy, 53.8% (1,172), among the other TTE findings valvular heart disease was in 21.8% (475), ischemic heart disease (IHD) in 21.6% (470), pericardial disease in 8.0% (175), and congenital heart disease (CHD) in 1.4% (30) patients. Conclusion This clinical audit showed the effective use of TTE as a noninvasive imaging modality for quantitative and qualitative evaluation of cardiac anatomy and function at a newly operational satellite center of a resource-limited country with normal TTE findings in only 36.6% of the patients.
