Mirela F A Andrade1, Isabel Cristina B Guimarães2, Angelina X Acosta3, Emília Katiane E A Leão3, Moisés I G Moreira4, Carlos Maurício C Mendes5. 1. Universidade Federal da Bahia (UFBA), Programa de Pós Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS), Salvador, BA, Brazil. Electronic address: mirelafalmeida@yahoo.com.br. 2. Universidade Federal da Bahia (UFBA), Faculdade de Medicina, Departamento de Pediatria - Setor de Cardiopediatria, Salvador, BA, Brazil. 3. Universidade Federal da Bahia (UFBA), Faculdade de Medicina, Departamento de Pediatria - Setor de Genética, Salvador, BA, Brazil. 4. Universidade Federal da Bahia (UFBA), Faculdade de Medicina, Hospital Universitário Professor Edgard Santos (HUPES), Salvador, BA, Brazil. 5. Universidade Federal da Bahia (UFBA), Programa de Pós Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS), Salvador, BA, Brazil.
Abstract
OBJECTIVE: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature. Cardiac signs and symptoms are underestimated due to the disease involvement in other organs. Enzyme replacement therapy can be used in mucopolysaccharidosis I, II, IV, and VI. Thus, the knowledge about the use of new echocardiography tools is relevant to improve the care of this population. This study aimed to describe left ventricular function assessment by conventional echocardiography and left ventricular global longitudinal strain analysis and compare the alterations in patients receiving enzyme replacement therapy and who had different ages at the start of therapy. METHOD: Outpatient-based descriptive study. The patients were submitted to conventional echocardiography and left ventricular global longitudinal strain measurement. RESULTS: Sixteen patients were evaluated; median age of 14.2 years (SD=5.2 years). Left ventricular hypertrophy was found in nine patients (56.2%). All patients had preserved left ventricular systolic function (Simpson and Teichholz). Nine (56.2%) patients showed alterations in left ventricular global longitudinal strain. The study showed a positive association between left ventricular hypertrophy and alteration in the left ventricular global longitudinal strain, and late start of enzyme replacement therapy and alteration in the left ventricular global longitudinal strain. CONCLUSION: Echocardiographic alterations in patients with mucopolysaccharidosis were frequently observed, especially alterations in the left ventricular geometry and subclinical dysfunction. Patients who had a late enzyme replacement therapy start showed an association with worse left ventricular global longitudinal strain values, reinforcing the need for early diagnosis and treatment. The use of new echocardiographic tools may improve the follow-up of these patients.
OBJECTIVE: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature. Cardiac signs and symptoms are underestimated due to the disease involvement in other organs. Enzyme replacement therapy can be used in mucopolysaccharidosis I, II, IV, and VI. Thus, the knowledge about the use of new echocardiography tools is relevant to improve the care of this population. This study aimed to describe left ventricular function assessment by conventional echocardiography and left ventricular global longitudinal strain analysis and compare the alterations in patients receiving enzyme replacement therapy and who had different ages at the start of therapy. METHOD:Outpatient-based descriptive study. The patients were submitted to conventional echocardiography and left ventricular global longitudinal strain measurement. RESULTS: Sixteen patients were evaluated; median age of 14.2 years (SD=5.2 years). Left ventricular hypertrophy was found in nine patients (56.2%). All patients had preserved left ventricular systolic function (Simpson and Teichholz). Nine (56.2%) patients showed alterations in left ventricular global longitudinal strain. The study showed a positive association between left ventricular hypertrophy and alteration in the left ventricular global longitudinal strain, and late start of enzyme replacement therapy and alteration in the left ventricular global longitudinal strain. CONCLUSION: Echocardiographic alterations in patients with mucopolysaccharidosis were frequently observed, especially alterations in the left ventricular geometry and subclinical dysfunction. Patients who had a late enzyme replacement therapy start showed an association with worse left ventricular global longitudinal strain values, reinforcing the need for early diagnosis and treatment. The use of new echocardiographic tools may improve the follow-up of these patients.
Authors: Benjamin Cross; Karolina M Stepien; Chaitanya Gadepalli; Ahmed Kharabish; Peter Woolfson; Govind Tol; Petra Jenkins Journal: Front Cardiovasc Med Date: 2022-04-04