Incidence and characteristics of the cardiovascular manifestations found in RTHß patients.
| . | Values . |
|---|---|
| Male/female (% female) | 118/166 (58.5% female) |
| Age (years) at diagnosis, median (IQR) | 30 (15-47) |
| Length (years) of the follow-up, median (IQR) | 2.9 (0-13.6) |
| Inheritance (maternal/paternal/sporadic/unknown), N | 82/48/51/103 |
| Involved codon, N (cluster 1/2/3/codon 383) | 116/115/45/8 |
| Ablative treatments (thyroidectomy/131I), Nc | 35/11 |
| Anti-thyroid treatment before diagnosis, N of patients (%) | 47/222 (21%) |
| fT4/ULN, mean ± SDd | 1.7 ± 0.5 |
| fT3/ULN, mean ± SDd | 1.6 ± 0.5 |
| TSH mU/L, mean ± SD; median (IQR)d | 3.1 ± 5.1; 2.2 (1.3-3.5) |
| Goiter, N of patients (%) | 142/219 (65%) |
| Associated AITD, N of patients (%) | 52/218 (24%) |
| Graves’ disease | 9 (4.2%) |
| TPO or Tg-Ab positive antibodies and typical US pattern | 31 (14%) |
| Autoimmune primary hypothyroidism | 12 (5.5%) |
| TRIAC treatmentc | 20/185 (11%) |
| Betablockersc | 59/187 (32%) |
| Levothyroxinec | 47/256 (18%) |
| CV manifestation, N of patients (%) | 125/196 (64%) |
| Age at the onset of CV symptoms, median years (IQR) | 42.1 (27.3-57.2) |
| Sinus tachycardia, N of patients (%) | 79 (40%) |
| Valve defects, N of patients (%) | 5 (2.5%) |
| MACE, N of patients (%) | 48 (24%) |
| Age at the time of MACE, median years (IQR) | 59.4 (50.4-66.4) |
| N and type of events | |
| Cardiovascular death | 3 |
| Acute myocardial infarction and angina | 12 |
| Stroke | 10 |
| Heart failure | 12 |
| New cardiac arrhythmia | 35 |
| Overall mortality, N (%) | 25/249 (10%) |
| Age at death, median years (IQR) | 74.5 (66.8-80.5) |
| Life expectancy, median years (IQR)a | 83 (79-84.5) |
| Lost year of life, mean ± SD, median (IQR)b | 11.2 ± 12.3, 7 (2-17) |
| Causes of death | |
| MACE, N of patients (%) | 15 (60%) |
| Cardiovascular death | 3 |
| Acute myocardial infarction | 5 |
| Stroke | 5 |
| Heart failure | 2 |
| Cancer, N of patients (%) | 2 (8%) |
| unknown cause, N of patients (%) | 8 (32%) |
| Patients still alive, N of patients (%) | 224/249 (90%) |
| Age of patients alive, median (IQR) | 45 (29-58.7) |
| Patients who have reached or surpassed the life expectancy of the Italian population, N (%) | 6/249 (2.4%) |
| Risk factors | |
| Hypertension, N of patients (%) | 54/210 (26%) |
| Diabetes/high fasting glucose (>5.55 mmol/L), N of patients (%) | 23/212 (11%) |
| Obesity | 17/209 (8.1%) |
| Dyslipidemia/cholesterol-lowering drugs | 68/191 (36%) |
| Years of diagnosis (N of patients) | |
| 1984-1994 | 54 |
| 1995-2005 | 86 |
| 2006-2016 | 99 |
| 2017-2024 | 45 |
| . | Values . |
|---|---|
| Male/female (% female) | 118/166 (58.5% female) |
| Age (years) at diagnosis, median (IQR) | 30 (15-47) |
| Length (years) of the follow-up, median (IQR) | 2.9 (0-13.6) |
| Inheritance (maternal/paternal/sporadic/unknown), N | 82/48/51/103 |
| Involved codon, N (cluster 1/2/3/codon 383) | 116/115/45/8 |
| Ablative treatments (thyroidectomy/131I), Nc | 35/11 |
| Anti-thyroid treatment before diagnosis, N of patients (%) | 47/222 (21%) |
| fT4/ULN, mean ± SDd | 1.7 ± 0.5 |
| fT3/ULN, mean ± SDd | 1.6 ± 0.5 |
| TSH mU/L, mean ± SD; median (IQR)d | 3.1 ± 5.1; 2.2 (1.3-3.5) |
| Goiter, N of patients (%) | 142/219 (65%) |
| Associated AITD, N of patients (%) | 52/218 (24%) |
| Graves’ disease | 9 (4.2%) |
| TPO or Tg-Ab positive antibodies and typical US pattern | 31 (14%) |
| Autoimmune primary hypothyroidism | 12 (5.5%) |
| TRIAC treatmentc | 20/185 (11%) |
| Betablockersc | 59/187 (32%) |
| Levothyroxinec | 47/256 (18%) |
| CV manifestation, N of patients (%) | 125/196 (64%) |
| Age at the onset of CV symptoms, median years (IQR) | 42.1 (27.3-57.2) |
| Sinus tachycardia, N of patients (%) | 79 (40%) |
| Valve defects, N of patients (%) | 5 (2.5%) |
| MACE, N of patients (%) | 48 (24%) |
| Age at the time of MACE, median years (IQR) | 59.4 (50.4-66.4) |
| N and type of events | |
| Cardiovascular death | 3 |
| Acute myocardial infarction and angina | 12 |
| Stroke | 10 |
| Heart failure | 12 |
| New cardiac arrhythmia | 35 |
| Overall mortality, N (%) | 25/249 (10%) |
| Age at death, median years (IQR) | 74.5 (66.8-80.5) |
| Life expectancy, median years (IQR)a | 83 (79-84.5) |
| Lost year of life, mean ± SD, median (IQR)b | 11.2 ± 12.3, 7 (2-17) |
| Causes of death | |
| MACE, N of patients (%) | 15 (60%) |
| Cardiovascular death | 3 |
| Acute myocardial infarction | 5 |
| Stroke | 5 |
| Heart failure | 2 |
| Cancer, N of patients (%) | 2 (8%) |
| unknown cause, N of patients (%) | 8 (32%) |
| Patients still alive, N of patients (%) | 224/249 (90%) |
| Age of patients alive, median (IQR) | 45 (29-58.7) |
| Patients who have reached or surpassed the life expectancy of the Italian population, N (%) | 6/249 (2.4%) |
| Risk factors | |
| Hypertension, N of patients (%) | 54/210 (26%) |
| Diabetes/high fasting glucose (>5.55 mmol/L), N of patients (%) | 23/212 (11%) |
| Obesity | 17/209 (8.1%) |
| Dyslipidemia/cholesterol-lowering drugs | 68/191 (36%) |
| Years of diagnosis (N of patients) | |
| 1984-1994 | 54 |
| 1995-2005 | 86 |
| 2006-2016 | 99 |
| 2017-2024 | 45 |
astratified population life expectancy obtained by public dataset of the Italian National Institute for Statistics (ISTAT, http://dati.istat.it/)life expectancy for age, sex, and year of diagnosis.
blost years of life of deceased patients were calculated as the difference between the stratified-population life expectancy and the age of death.
ctreatments started at any time during patients’ life, but always analysed before the outcomes studied in this cohort (MACE and death).
dthe thyroid function tests reported in this table are the closest to the MACE or the last available for those without cardiovascular involvement.
IQR interquartile range. MACEs (major cardiovascular events) is a composite of cardiovascular death, acute myocardial infarction, heart failure, new cardiac arrhythmia (atrial fibrillation), angina, and stroke.
Incidence and characteristics of the cardiovascular manifestations found in RTHß patients.
| . | Values . |
|---|---|
| Male/female (% female) | 118/166 (58.5% female) |
| Age (years) at diagnosis, median (IQR) | 30 (15-47) |
| Length (years) of the follow-up, median (IQR) | 2.9 (0-13.6) |
| Inheritance (maternal/paternal/sporadic/unknown), N | 82/48/51/103 |
| Involved codon, N (cluster 1/2/3/codon 383) | 116/115/45/8 |
| Ablative treatments (thyroidectomy/131I), Nc | 35/11 |
| Anti-thyroid treatment before diagnosis, N of patients (%) | 47/222 (21%) |
| fT4/ULN, mean ± SDd | 1.7 ± 0.5 |
| fT3/ULN, mean ± SDd | 1.6 ± 0.5 |
| TSH mU/L, mean ± SD; median (IQR)d | 3.1 ± 5.1; 2.2 (1.3-3.5) |
| Goiter, N of patients (%) | 142/219 (65%) |
| Associated AITD, N of patients (%) | 52/218 (24%) |
| Graves’ disease | 9 (4.2%) |
| TPO or Tg-Ab positive antibodies and typical US pattern | 31 (14%) |
| Autoimmune primary hypothyroidism | 12 (5.5%) |
| TRIAC treatmentc | 20/185 (11%) |
| Betablockersc | 59/187 (32%) |
| Levothyroxinec | 47/256 (18%) |
| CV manifestation, N of patients (%) | 125/196 (64%) |
| Age at the onset of CV symptoms, median years (IQR) | 42.1 (27.3-57.2) |
| Sinus tachycardia, N of patients (%) | 79 (40%) |
| Valve defects, N of patients (%) | 5 (2.5%) |
| MACE, N of patients (%) | 48 (24%) |
| Age at the time of MACE, median years (IQR) | 59.4 (50.4-66.4) |
| N and type of events | |
| Cardiovascular death | 3 |
| Acute myocardial infarction and angina | 12 |
| Stroke | 10 |
| Heart failure | 12 |
| New cardiac arrhythmia | 35 |
| Overall mortality, N (%) | 25/249 (10%) |
| Age at death, median years (IQR) | 74.5 (66.8-80.5) |
| Life expectancy, median years (IQR)a | 83 (79-84.5) |
| Lost year of life, mean ± SD, median (IQR)b | 11.2 ± 12.3, 7 (2-17) |
| Causes of death | |
| MACE, N of patients (%) | 15 (60%) |
| Cardiovascular death | 3 |
| Acute myocardial infarction | 5 |
| Stroke | 5 |
| Heart failure | 2 |
| Cancer, N of patients (%) | 2 (8%) |
| unknown cause, N of patients (%) | 8 (32%) |
| Patients still alive, N of patients (%) | 224/249 (90%) |
| Age of patients alive, median (IQR) | 45 (29-58.7) |
| Patients who have reached or surpassed the life expectancy of the Italian population, N (%) | 6/249 (2.4%) |
| Risk factors | |
| Hypertension, N of patients (%) | 54/210 (26%) |
| Diabetes/high fasting glucose (>5.55 mmol/L), N of patients (%) | 23/212 (11%) |
| Obesity | 17/209 (8.1%) |
| Dyslipidemia/cholesterol-lowering drugs | 68/191 (36%) |
| Years of diagnosis (N of patients) | |
| 1984-1994 | 54 |
| 1995-2005 | 86 |
| 2006-2016 | 99 |
| 2017-2024 | 45 |
| . | Values . |
|---|---|
| Male/female (% female) | 118/166 (58.5% female) |
| Age (years) at diagnosis, median (IQR) | 30 (15-47) |
| Length (years) of the follow-up, median (IQR) | 2.9 (0-13.6) |
| Inheritance (maternal/paternal/sporadic/unknown), N | 82/48/51/103 |
| Involved codon, N (cluster 1/2/3/codon 383) | 116/115/45/8 |
| Ablative treatments (thyroidectomy/131I), Nc | 35/11 |
| Anti-thyroid treatment before diagnosis, N of patients (%) | 47/222 (21%) |
| fT4/ULN, mean ± SDd | 1.7 ± 0.5 |
| fT3/ULN, mean ± SDd | 1.6 ± 0.5 |
| TSH mU/L, mean ± SD; median (IQR)d | 3.1 ± 5.1; 2.2 (1.3-3.5) |
| Goiter, N of patients (%) | 142/219 (65%) |
| Associated AITD, N of patients (%) | 52/218 (24%) |
| Graves’ disease | 9 (4.2%) |
| TPO or Tg-Ab positive antibodies and typical US pattern | 31 (14%) |
| Autoimmune primary hypothyroidism | 12 (5.5%) |
| TRIAC treatmentc | 20/185 (11%) |
| Betablockersc | 59/187 (32%) |
| Levothyroxinec | 47/256 (18%) |
| CV manifestation, N of patients (%) | 125/196 (64%) |
| Age at the onset of CV symptoms, median years (IQR) | 42.1 (27.3-57.2) |
| Sinus tachycardia, N of patients (%) | 79 (40%) |
| Valve defects, N of patients (%) | 5 (2.5%) |
| MACE, N of patients (%) | 48 (24%) |
| Age at the time of MACE, median years (IQR) | 59.4 (50.4-66.4) |
| N and type of events | |
| Cardiovascular death | 3 |
| Acute myocardial infarction and angina | 12 |
| Stroke | 10 |
| Heart failure | 12 |
| New cardiac arrhythmia | 35 |
| Overall mortality, N (%) | 25/249 (10%) |
| Age at death, median years (IQR) | 74.5 (66.8-80.5) |
| Life expectancy, median years (IQR)a | 83 (79-84.5) |
| Lost year of life, mean ± SD, median (IQR)b | 11.2 ± 12.3, 7 (2-17) |
| Causes of death | |
| MACE, N of patients (%) | 15 (60%) |
| Cardiovascular death | 3 |
| Acute myocardial infarction | 5 |
| Stroke | 5 |
| Heart failure | 2 |
| Cancer, N of patients (%) | 2 (8%) |
| unknown cause, N of patients (%) | 8 (32%) |
| Patients still alive, N of patients (%) | 224/249 (90%) |
| Age of patients alive, median (IQR) | 45 (29-58.7) |
| Patients who have reached or surpassed the life expectancy of the Italian population, N (%) | 6/249 (2.4%) |
| Risk factors | |
| Hypertension, N of patients (%) | 54/210 (26%) |
| Diabetes/high fasting glucose (>5.55 mmol/L), N of patients (%) | 23/212 (11%) |
| Obesity | 17/209 (8.1%) |
| Dyslipidemia/cholesterol-lowering drugs | 68/191 (36%) |
| Years of diagnosis (N of patients) | |
| 1984-1994 | 54 |
| 1995-2005 | 86 |
| 2006-2016 | 99 |
| 2017-2024 | 45 |
astratified population life expectancy obtained by public dataset of the Italian National Institute for Statistics (ISTAT, http://dati.istat.it/)life expectancy for age, sex, and year of diagnosis.
blost years of life of deceased patients were calculated as the difference between the stratified-population life expectancy and the age of death.
ctreatments started at any time during patients’ life, but always analysed before the outcomes studied in this cohort (MACE and death).
dthe thyroid function tests reported in this table are the closest to the MACE or the last available for those without cardiovascular involvement.
IQR interquartile range. MACEs (major cardiovascular events) is a composite of cardiovascular death, acute myocardial infarction, heart failure, new cardiac arrhythmia (atrial fibrillation), angina, and stroke.
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