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肥厚型心肌病的迟发表型表达：何时停止筛查？

Late Phenotypic Expression of Hypertrophic Cardiomyopathy: When to Stop Looking?

作者信息

Bavishi Aakash, Bryde Robyn, Martinez Matthew W

机构信息

University of Illinois-Chicago, Chicago, Illinois, USA.

Atlantic Health Medical Center, Morristown, New Jersey, USA.

出版信息

JACC Case Rep. 2024 Oct 2;29(19):102565. doi: 10.1016/j.jaccas.2024.102565.

DOI:10.1016/j.jaccas.2024.102565
PMID:39484306
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11522737/
Abstract

Guidelines recommend clinical assessment, an electrocardiogram, and imaging every 3 to 5 years in adults who are genotype positive, phenotype negative for hypertrophic cardiomyopathy (HCM) or who have a first-degree relative with genotype-negative HCM. The age to stop screening is unclear. We report 4 cases of individuals transitioning from phenotype-negative to phenotype-positive HCM at various ages.

摘要

指南建议，对于基因检测呈阳性、肥厚型心肌病（HCM）表型检测呈阴性或有基因检测呈阴性的HCM一级亲属的成年人，应每3至5年进行一次临床评估、心电图检查和影像学检查。停止筛查的年龄尚不清楚。我们报告了4例在不同年龄从表型阴性转变为表型阳性HCM的个体病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/185446493242/gr10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/91522409e834/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/6c7f8caaebe1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/898844ae97cd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/0ed2b12d1f3f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/7cb48e095fc6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/97d53f214d0a/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/9af192e19106/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/4bac786b2b4b/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/03d14a19d622/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/c38112676927/gr9.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/185446493242/gr10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/91522409e834/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/6c7f8caaebe1/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/898844ae97cd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/0ed2b12d1f3f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/7cb48e095fc6/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/97d53f214d0a/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/9af192e19106/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/4bac786b2b4b/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/03d14a19d622/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/c38112676927/gr9.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b59c/11522737/185446493242/gr10.jpg

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本文引用的文献

1
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.2024 年美国心脏协会/美国心脏病学会/美国运动医学会/心律学会/起搏与电生理学会/心血管磁共振学会肥厚型心肌病管理指南：美国心脏协会/美国心脏病学会临床实践指南联合委员会的报告。
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Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.肥厚型心肌病的诊断与评估：美国心脏病学会心血管造影与介入学会最新临床综述
J Am Coll Cardiol. 2022 Feb 1;79(4):372-389. doi: 10.1016/j.jacc.2021.12.002.
3
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
常见的遗传变异和可调节的风险因素是肥厚型心肌病易感性和表现性的基础。
Nat Genet. 2021 Feb;53(2):135-142. doi: 10.1038/s41588-020-00764-0. Epub 2021 Jan 25.
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Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry.肥厚型心肌病发病年龄的时间趋势：国际肌小节性人类心肌病注册分析。
Circ Heart Fail. 2020 Sep;13(9):e007230. doi: 10.1161/CIRCHEARTFAILURE.120.007230. Epub 2020 Sep 8.
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Variable Penetrance in Hypertrophic Cardiomyopathy: In Search of the Holy Grail.肥厚型心肌病的可变外显率：探寻圣杯
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Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.肌节蛋白基因突变携带者肥厚型心肌病的外显率。
J Am Coll Cardiol. 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011.
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