ArticleOrphanet journal of rare diseases2019
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Prevalence and Outcomes of p.Val142IleCirculation. Genomic and precision medicine · 2021Pooled it
- Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.Journal of the American Heart Association · 2026Article
- Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation.Orphanet journal of rare diseases · 2025Article
- Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.Journal of cardiovascular development and disease · 2025Review
- Safety and Efficacy of Tafamidis in Chinese Patients with Transthyretin Amyloid Cardiomyopathy.Cardiology and therapy · 2025Article
- Article
- Unraveling gut microbiome alterations and metabolic signatures in hereditary transthyretin amyloidosis.Microbiology spectrum · 2025Article
- Navigating the Diagnostic and Management Challenges of Suspected Cardiac Amyloidosis in Resource-Limited Settings: Ethiopia Experience.Clinical case reports · 2024Article
- Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy.Frontiers in cardiovascular medicine · 2024Article
- Noninvasive multimodality imaging in hereditary transthyretin amyloid cardiomyopathy: a family case series from the southeast coast of China with an identified heterozygous missense mutation c.349G>T in the transthyretin gene.Quantitative imaging in medicine and surgery · 2023Article
- World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).Global heart · 2023Review
- The Silent Period for Small Fiber Sensory Neuropathy Assessment in a Mixed Cohort of Transthyretin-Mediated Amyloidosis.Biomedicines · 2022Article
- Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.Frontiers in molecular neuroscience · 2022Article
- Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.Frontiers in cardiovascular medicine · 2022Article
- Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.Annals of clinical and translational neurology · 2021Article
- The Structural Understanding of Transthyretin Misfolding and the Inspired Drug Approaches for the Treatment of Heart Failure Associated With Transthyretin Amyloidosis.Frontiers in pharmacology · 2021Review
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6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. This study was performed to describe the clinical characteristics and natural history of Chinese patients to improve clinical awareness of this condition.
methodsIn this study, we retrospectively investigated 23 patients with a confirmed diagnosis of hereditary ATTR-CM in Peking Union Medical College hospital from From January 1, 2000 to December 31, 2018.
resultsIn all, 16 patients (69.6%) were males, the median age at disease onset was 45 (33,55) years old. The median duration from symptom onset to diagnosis was 30 (18,46) months. Phenotypes were classified as exclusively cardiac (n = 1, 4.3%) and mixed type (n = 22, 95.6%). The common mutations were Gly47Arg (7 patients [30.4%]) and Val30Ala (3 patients [13%]). Ventricular hypertrophy was observed in 23 (100%) patients, the mean thickness of the ventricular septum was 16.1 ± 3.9 mm, the mean thickness of the left ventricular posterior wall was 15.1 ± 2.8 mm. The mean left ventricle ejection fraction (LVEF) was 57.3 ± 11.9% and only 5 patients (21.7%) had LVEF < 50%. 18 (78.3%) patients had abnormal electrocardiography and the most common feature was pseudoinfarct pattern (56.5%). Overall survival at 12, 24, 36, 48, and 60 months after diagnosis was 77.8, 55.6, 38.9, 27.8, and 11.1%, respectively. Survival was better in patients with EF ≥50% than in those with EF < 50% [log Rank (Mantel-Cox), χ2 = 4.03, P = 0.045].
conclusionsThe clinical characteristics of ATTR are heterogeneous: men are more likely to be affected and onset symptoms are not obvious in the heart and mainly include peripheral neuropathy and autonomic neuropathy; however, LV hypertrophy, especially a thick ventricular septum and posterior wall with preserved LVEF, are often detected on echocardiography. Abnormal ECG manifestations are common. The prognosis is poor, and patients with EF > 50% have better survival. Clinicians should be more aware of the complex clinical profile of ATTR amyloidosis to avoid misdiagnosis in practice.
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