Heart failure & cardiomyopathies
Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members
Authors' conclusion
Previously undiagnosed ATTRv G+ family members have a greater prevalence and incidence of symptomatic neurological rather than cardiac disease, and the progression of cardiac disease was limited, which has implications for treating these patients preemptively.
Study context
- Population
- Previously undiagnosed family members of patients with hereditary transthyretin amyloid cardiomyopathy (ATTRv-CM) with pathogenic or likely pathogenic TTR variants (genotype positive or G+)G+ family members, 55 had follow-up imaging studies
- Participants
- 85 participants
- Outcome
- Genotypes
Main finding
As reported in the abstract
Val50Met
29.4%
Thr60Ala
28.2%
Observational data: associations, not effects.
Further findings
Baseline characteristics
- Mean age
- 48.5 ± 11.7 years
- Male
- 38.8%
- Peripheral neuropathy
- 17.9%
- Carpal tunnel syndrome
- 15.5%
Left ventricular ejection fraction · median follow-up 6.8 years (Q1-Q3: 4.1-9.7)
- Reduction
- 63 ± 4 to 61 ± 4, P = 0.014
- Among 55 patients with follow-up imaging
Septal wall thickness · median follow-up 6.8 years (Q1-Q3: 4.1-9.7)
- Progressive thickening
- 9.4 ± 1.6 to 10.2 ± 2.4, P = 0.037
At least 2 abnormal echocardiographic changes consistent with cardiac disease progression
- Patients
- 6 (10.9%)
Peripheral neuropathy during follow-up
- Risk
- 25.5% (95% CI: 8.9%-42.1%; P = 0.004)
Heart failure
- None diagnosed with heart failure
Follow-up
- Median follow-up
- 6.8 years (Q1-Q3: 4.1-9.7)
- Patients with follow-up imaging studies
- 55
Original publication
Summarised from the published abstract; every number is checked against it