Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction
Familial hypercholesterolemia (FH) is relatively prevalent in myocardial infarction (MI) sufferers, and its diagnosis could improve preventive treatment in family members. We aim to analyze the diagnosis of FH and the rate of genetic testing in a prospective cohort of 245 patients submitted to our C...
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MDPI AG
2025-02-01
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| Series: | Cardiogenetics |
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| Online Access: | https://www.mdpi.com/2035-8148/15/1/6 |
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| author | Carlos Bertolín-Boronat Víctor Marcos-Garcés Héctor Merenciano-González María Luz Martínez Mas Josefa Inés Climent Alberola Nerea Perez Laura López Bueno María Concepción Esteban Argente María Valls Reig Ana Arizón Benito Alfonso Payá Rubio César Ríos-Navarro Elena de Dios Jose Gavara Manuel F. Jiménez-Navarro Francisco Javier Chorro Juan Sanchis Vicente Bodi |
| author_facet | Carlos Bertolín-Boronat Víctor Marcos-Garcés Héctor Merenciano-González María Luz Martínez Mas Josefa Inés Climent Alberola Nerea Perez Laura López Bueno María Concepción Esteban Argente María Valls Reig Ana Arizón Benito Alfonso Payá Rubio César Ríos-Navarro Elena de Dios Jose Gavara Manuel F. Jiménez-Navarro Francisco Javier Chorro Juan Sanchis Vicente Bodi |
| author_sort | Carlos Bertolín-Boronat |
| collection | DOAJ |
| description | Familial hypercholesterolemia (FH) is relatively prevalent in myocardial infarction (MI) sufferers, and its diagnosis could improve preventive treatment in family members. We aim to analyze the diagnosis of FH and the rate of genetic testing in a prospective cohort of 245 patients submitted to our Cardiac Rehabilitation Program (CRP) after MI. Baseline characteristics were registered, and basal low-density lipoprotein cholesterol (LDL-C) was calculated after correction for lipid-lowering therapies (LLT) before or during admission. Simplified Dutch Lipid Clinic Network Scores (sDLCNS) were retrospectively calculated based on personal and familial history of premature cardiovascular disease and basal LDL-C levels. Mean age was 62.19 ± 13.93 years, and most patients were male (81.6%). Mean LDL-C before admission and basal LDL-C corrected for LLT were 131.79 ± 45.34 mg/dL and 162.87 ± 44.17 mg/dL, respectively. Patients in the cohort were retrospectively categorized in the “unlikely” (<3 points; <i>n</i> = 162, 66.1%), “possible” (3–5 points; <i>n</i> = 72, 29.4%) and “probable” (6–8 points; <i>n</i> = 11, 4.5%) sDLCNS categories. Genetic testing for FH was requested in four (1.6%) patients, and no clinically significant genetic variants were detected. Patients who underwent genetic testing depicted significantly higher basal LDL-C (233 ± 49.09 vs. 161.71 ± 43.25 mg/dL, <i>p</i> = 0.001). However, the rate of individuals undergoing genetic testing was negligible even in the “possible” (<i>n</i> = 2, 2.8%) and “probable” (<i>n</i> = 1, 9.1%) sDLCNS categories. In conclusion, genetic testing for FH in our CRP after MI is largely underutilized, even in patients with a “possible” or “probable” diagnosis based on sDLCNS criteria, which represent about a third of the cohort. Strategies to improve screening for FH should be prospectively implemented. |
| format | Article |
| id | doaj-art-9e23ef24df1c4d0e985dd3bfe572fa9f |
| institution | Kabale University |
| issn | 2035-8253 2035-8148 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
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| series | Cardiogenetics |
| spelling | doaj-art-9e23ef24df1c4d0e985dd3bfe572fa9f2025-08-20T03:43:11ZengMDPI AGCardiogenetics2035-82532035-81482025-02-01151610.3390/cardiogenetics15010006Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial InfarctionCarlos Bertolín-Boronat0Víctor Marcos-Garcés1Héctor Merenciano-González2María Luz Martínez Mas3Josefa Inés Climent Alberola4Nerea Perez5Laura López Bueno6María Concepción Esteban Argente7María Valls Reig8Ana Arizón Benito9Alfonso Payá Rubio10César Ríos-Navarro11Elena de Dios12Jose Gavara13Manuel F. Jiménez-Navarro14Francisco Javier Chorro15Juan Sanchis16Vicente Bodi17Department of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Rehabilitation, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainINCLIVA Health Research Institute, 46010 Valencia, SpainDepartment of Rehabilitation, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Rehabilitation, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainOccupational Risk Prevention Service, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Rehabilitation, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainINCLIVA Health Research Institute, 46010 Valencia, SpainNetwork Biomedical Research Center for Cardiovascular Diseases (CIBER-CV), 28029 Madrid, SpainCentre for Biomaterials and Tissue Engineering, Universitat Politènica de València, 46022 Valencia, SpainNetwork Biomedical Research Center for Cardiovascular Diseases (CIBER-CV), 28029 Madrid, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainDepartment of Cardiology, Hospital Clinico Universitario de Valencia, 46010 Valencia, SpainFamilial hypercholesterolemia (FH) is relatively prevalent in myocardial infarction (MI) sufferers, and its diagnosis could improve preventive treatment in family members. We aim to analyze the diagnosis of FH and the rate of genetic testing in a prospective cohort of 245 patients submitted to our Cardiac Rehabilitation Program (CRP) after MI. Baseline characteristics were registered, and basal low-density lipoprotein cholesterol (LDL-C) was calculated after correction for lipid-lowering therapies (LLT) before or during admission. Simplified Dutch Lipid Clinic Network Scores (sDLCNS) were retrospectively calculated based on personal and familial history of premature cardiovascular disease and basal LDL-C levels. Mean age was 62.19 ± 13.93 years, and most patients were male (81.6%). Mean LDL-C before admission and basal LDL-C corrected for LLT were 131.79 ± 45.34 mg/dL and 162.87 ± 44.17 mg/dL, respectively. Patients in the cohort were retrospectively categorized in the “unlikely” (<3 points; <i>n</i> = 162, 66.1%), “possible” (3–5 points; <i>n</i> = 72, 29.4%) and “probable” (6–8 points; <i>n</i> = 11, 4.5%) sDLCNS categories. Genetic testing for FH was requested in four (1.6%) patients, and no clinically significant genetic variants were detected. Patients who underwent genetic testing depicted significantly higher basal LDL-C (233 ± 49.09 vs. 161.71 ± 43.25 mg/dL, <i>p</i> = 0.001). However, the rate of individuals undergoing genetic testing was negligible even in the “possible” (<i>n</i> = 2, 2.8%) and “probable” (<i>n</i> = 1, 9.1%) sDLCNS categories. In conclusion, genetic testing for FH in our CRP after MI is largely underutilized, even in patients with a “possible” or “probable” diagnosis based on sDLCNS criteria, which represent about a third of the cohort. Strategies to improve screening for FH should be prospectively implemented.https://www.mdpi.com/2035-8148/15/1/6myocardial infarctionfamilial hypercholesterolemiacardiac rehabilitationgenetic testingDutch Lipid Clinic Network |
| spellingShingle | Carlos Bertolín-Boronat Víctor Marcos-Garcés Héctor Merenciano-González María Luz Martínez Mas Josefa Inés Climent Alberola Nerea Perez Laura López Bueno María Concepción Esteban Argente María Valls Reig Ana Arizón Benito Alfonso Payá Rubio César Ríos-Navarro Elena de Dios Jose Gavara Manuel F. Jiménez-Navarro Francisco Javier Chorro Juan Sanchis Vicente Bodi Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction Cardiogenetics myocardial infarction familial hypercholesterolemia cardiac rehabilitation genetic testing Dutch Lipid Clinic Network |
| title | Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction |
| title_full | Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction |
| title_fullStr | Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction |
| title_full_unstemmed | Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction |
| title_short | Familial Hypercholesterolemia Screening in a Cardiac Rehabilitation Program After Myocardial Infarction |
| title_sort | familial hypercholesterolemia screening in a cardiac rehabilitation program after myocardial infarction |
| topic | myocardial infarction familial hypercholesterolemia cardiac rehabilitation genetic testing Dutch Lipid Clinic Network |
| url | https://www.mdpi.com/2035-8148/15/1/6 |
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