A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital
BackgroundIn Colombia, the characteristics of cardiac amyloidosis (CA)—including wild-type transthyretin amyloidosis (ATTRwt), immunoglobulin light chain amyloidosis (AL), and genetic variant transthyretin amyloidosis (ATTRv)—are underexplored.MethodsThis case series at a Colombian university hospit...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1487717/full |
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| author | Juan David López-Ponce de León Juan David López-Ponce de León Juan David López-Ponce de León Santiago Granados-Álvarez Juan Pablo Arango-Ibanez Juan Pablo Arango-Ibanez Juan Manuel Montero Echeverri Andrea Alejandra Arteaga Tobar Andrea Facio-Lince Garcia Yorlany Rodas Cortes Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa |
| author_facet | Juan David López-Ponce de León Juan David López-Ponce de León Juan David López-Ponce de León Santiago Granados-Álvarez Juan Pablo Arango-Ibanez Juan Pablo Arango-Ibanez Juan Manuel Montero Echeverri Andrea Alejandra Arteaga Tobar Andrea Facio-Lince Garcia Yorlany Rodas Cortes Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa |
| author_sort | Juan David López-Ponce de León |
| collection | DOAJ |
| description | BackgroundIn Colombia, the characteristics of cardiac amyloidosis (CA)—including wild-type transthyretin amyloidosis (ATTRwt), immunoglobulin light chain amyloidosis (AL), and genetic variant transthyretin amyloidosis (ATTRv)—are underexplored.MethodsThis case series at a Colombian university hospital analyzed demographic, clinical, laboratory, radiological, and genetic data of CA patients diagnosed between 2018 and 2022. Patients with incomplete data underwent further testing.ResultsOf 24 identified patients, 14 were included after exclusions. The majority were male (73.3%), with an average age of 70.6 years. ATTRv and AL were equally prevalent (42.8%), followed by ATTRwt (14.2%). The p.Val142Ile TTR mutation was found among all ATTRv patients. Most presented with functional capacity NYHA I-II and common electrocardiographic findings included low voltage, atrial fibrillation, and first-degree AV block. Echocardiography and cardiac magnetic resonance imaging revealed ventricular hypertrophy, diastolic dysfunction, reduced longitudinal strain, and late myocardial enhancement.ConclusionsAL and ATTRv were the most common causes of CA followed by ATTRwt. This distribution, along with the clinical, and radiological characterization is consistent with previous reports of other regions. The p.Val142Ile mutation was the only one found in patients with ATTRv, suggesting a strong African genetic influence. These findings enhance our understanding of CA in the region. |
| format | Article |
| id | doaj-art-2786447164ba4f328d2c3db8163361fd |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-2786447164ba4f328d2c3db8163361fd2025-02-03T06:33:45ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-02-011210.3389/fcvm.2025.14877171487717A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospitalJuan David López-Ponce de León0Juan David López-Ponce de León1Juan David López-Ponce de León2Santiago Granados-Álvarez3Juan Pablo Arango-Ibanez4Juan Pablo Arango-Ibanez5Juan Manuel Montero Echeverri6Andrea Alejandra Arteaga Tobar7Andrea Facio-Lince Garcia8Yorlany Rodas Cortes9Juan Esteban Gómez-Mesa10Juan Esteban Gómez-Mesa11Juan Esteban Gómez-Mesa12Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaDepartamento de Cardiología, Fundación Valle del Lili, Cali, ColombiaFacultad de Ciencias de la Salud, Universidad Icesi, Cali, ColombiaFacultad de Ciencias de la Salud, Universidad Icesi, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaFacultad de Ciencias de la Salud, Universidad Icesi, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaFacultad de Ciencias de la Salud, Universidad Icesi, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaCentro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, ColombiaDepartamento de Cardiología, Fundación Valle del Lili, Cali, ColombiaFacultad de Ciencias de la Salud, Universidad Icesi, Cali, ColombiaBackgroundIn Colombia, the characteristics of cardiac amyloidosis (CA)—including wild-type transthyretin amyloidosis (ATTRwt), immunoglobulin light chain amyloidosis (AL), and genetic variant transthyretin amyloidosis (ATTRv)—are underexplored.MethodsThis case series at a Colombian university hospital analyzed demographic, clinical, laboratory, radiological, and genetic data of CA patients diagnosed between 2018 and 2022. Patients with incomplete data underwent further testing.ResultsOf 24 identified patients, 14 were included after exclusions. The majority were male (73.3%), with an average age of 70.6 years. ATTRv and AL were equally prevalent (42.8%), followed by ATTRwt (14.2%). The p.Val142Ile TTR mutation was found among all ATTRv patients. Most presented with functional capacity NYHA I-II and common electrocardiographic findings included low voltage, atrial fibrillation, and first-degree AV block. Echocardiography and cardiac magnetic resonance imaging revealed ventricular hypertrophy, diastolic dysfunction, reduced longitudinal strain, and late myocardial enhancement.ConclusionsAL and ATTRv were the most common causes of CA followed by ATTRwt. This distribution, along with the clinical, and radiological characterization is consistent with previous reports of other regions. The p.Val142Ile mutation was the only one found in patients with ATTRv, suggesting a strong African genetic influence. These findings enhance our understanding of CA in the region.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1487717/fullamyloidosisAL amyloidosiscardiac amyloidosisColombiaLatin Americatransthyretin |
| spellingShingle | Juan David López-Ponce de León Juan David López-Ponce de León Juan David López-Ponce de León Santiago Granados-Álvarez Juan Pablo Arango-Ibanez Juan Pablo Arango-Ibanez Juan Manuel Montero Echeverri Andrea Alejandra Arteaga Tobar Andrea Facio-Lince Garcia Yorlany Rodas Cortes Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa Juan Esteban Gómez-Mesa A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital Frontiers in Cardiovascular Medicine amyloidosis AL amyloidosis cardiac amyloidosis Colombia Latin America transthyretin |
| title | A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital |
| title_full | A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital |
| title_fullStr | A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital |
| title_full_unstemmed | A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital |
| title_short | A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital |
| title_sort | case series of patients with cardiac amyloidosis evaluated at a colombian university hospital |
| topic | amyloidosis AL amyloidosis cardiac amyloidosis Colombia Latin America transthyretin |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1487717/full |
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