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ABSTRACT: Aims
Transthyretin amyloid cardiomyopathy (ATTR-CM) is predominantly diagnosed in men. The few available studies suggest affected women have a more favourable cardiac phenotype. We aimed to characterize sex differences among consecutive patients with non-hereditary and two prevalent forms of hereditary (h)ATTR-CM diagnosed over a 20-year period.Methods and results
Analysis of deep phenotyping at presentation, changes on serial echocardiography and overall prognosis were evaluated. In total, 1732 consecutive patients were studied, comprising: 1095 with wild-type (wt)ATTR-CM; 206 with T60A-hATTR-CM; and 431 with V122I-hATTR-CM. Female prevalence was greater in T60A-hATTR-CM (29.6%) and V122I-hATTR-CM (27.8%) compared to wtATTR-CM (6%). At presentation, females were 3.3 years older than males (wtATTR-CM: 81.9 vs. 77.8 years; T60A-hATTR-CM: 68.7 vs. 65.1 years; V122I-hATTR-CM: 77.1 vs. 74.9 years). Body size significantly influenced measures of disease severity; when indexed, overall structural and functional phenotype was similar between sexes, the few significant differences suggested a mildly worse phenotype in females. No significant differences were observed in both disease progression on serial echocardiography and mortality across the overall population (p = 0.459) and when divided by genotype (wtATTR-CM: p = 0.730; T60A-hATTR-CM: p = 0.161; V122I-hATTR-CM: p = 0.056).Conclusion
This study of a well-characterized large cohort of ATTR-CM patients did not demonstrate overall differences between sexes in either clinical phenotype, when indexed, or with respect to disease progression and prognosis. Non-indexed wall thickness measurements may have contributed to both under-representation and delays in diagnosis for affected females and highlights the potential role of utilizing indexed echocardiographic parameters for a more accurate assessment of patients at diagnosis and for disease prognostication.
SUBMITTER: Patel RK
PROVIDER: S-EPMC10087683 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Patel Rishi K RK Ioannou Adam A Razvi Yousuf Y Chacko Liza L Venneri Lucia L Bandera Francesco F Knight Daniel D Kotecha Tushar T Martinez-Naharro Ana A Masi Ambra A Porcari Aldostefano A Brown James J Patel Kiara K Manisty Charlotte C Moon James J Rowczenio Dorota D Gilbertson Janet A JA Sinagra Gianfranco G Lachmann Helen H Wechalekar Ashutosh A Petrie Aviva A Whelan Carol C Hawkins Philip N PN Gillmore Julian D JD Fontana Marianna M
European journal of heart failure 20220816 12
<h4>Aims</h4>Transthyretin amyloid cardiomyopathy (ATTR-CM) is predominantly diagnosed in men. The few available studies suggest affected women have a more favourable cardiac phenotype. We aimed to characterize sex differences among consecutive patients with non-hereditary and two prevalent forms of hereditary (h)ATTR-CM diagnosed over a 20-year period.<h4>Methods and results</h4>Analysis of deep phenotyping at presentation, changes on serial echocardiography and overall prognosis were evaluated ...[more]