PDF(Pubmed)
Abstract：
Aotearoa/New Zealand has a multiethnic population. Patients with hypertrophic cardiomyopathy (HCM) are enrolled in the national Cardiac Inherited Diseases Registry New Zealand. Here, we report the characteristics of Cardiac Inherited Diseases Registry New Zealand HCM probands with and without pathogenic or likely pathogenic (P/LP) genetic variants for HCM, and assess genetic testing yield and variant spectrum by self-identified ethnicity.
Probands with HCM and enrolled in Cardiac Inherited Diseases Registry New Zealand who have undergone clinical genetic testing over a 17-year period were included. Clinical data, family history, and genetic test results were analyzed.
Of 336 probands, 121 (36%) were women, 220 (66%) were European ethnicity, 41 (12%) were Māori, 26 (8%) were Pacific people, and 49 (15%) were other ethnicities. Thirteen probands (4%) presented with sudden death and 19 (6%) with cardiac arrest. A total of 134 (40%) had a P/LP variant identified; most commonly in the MYBPC3 gene (60%) followed by the MYH7 gene (24%). A P/LP variant was identified in 27% of Māori or Pacific probands versus 43% European or other ethnicity probands (P=0.022); 16% of Māori or Pacific probands had a variant of uncertain significance identified, compared with 9% of European or other ethnicity probands (P=0.092). Women more often had a P/LP variant identified than men (48% versus 35%; P=0.032), and variant-positive probands were younger at clinical diagnosis than variant of uncertain significance/variant-negative probands (39±17 versus 50±17 years; P<0.001) and more likely to have experienced cardiac arrest or sudden death events over their lifetime (P=0.002).
Carriage of a P/LP variant in HCM probands is associated with presentation at younger age, and cardiac arrest or sudden death events. Māori or Pacific probands were less likely to have a P/LP variant identified than European or other ethnicity probands.
Probands with HCM and enrolled in Cardiac Inherited Diseases Registry New Zealand who have undergone clinical genetic testing over a 17-year period were included. Clinical data, family history, and genetic test results were analyzed.
Of 336 probands, 121 (36%) were women, 220 (66%) were European ethnicity, 41 (12%) were Māori, 26 (8%) were Pacific people, and 49 (15%) were other ethnicities. Thirteen probands (4%) presented with sudden death and 19 (6%) with cardiac arrest. A total of 134 (40%) had a P/LP variant identified; most commonly in the MYBPC3 gene (60%) followed by the MYH7 gene (24%). A P/LP variant was identified in 27% of Māori or Pacific probands versus 43% European or other ethnicity probands (P=0.022); 16% of Māori or Pacific probands had a variant of uncertain significance identified, compared with 9% of European or other ethnicity probands (P=0.092). Women more often had a P/LP variant identified than men (48% versus 35%; P=0.032), and variant-positive probands were younger at clinical diagnosis than variant of uncertain significance/variant-negative probands (39±17 versus 50±17 years; P<0.001) and more likely to have experienced cardiac arrest or sudden death events over their lifetime (P=0.002).
Carriage of a P/LP variant in HCM probands is associated with presentation at younger age, and cardiac arrest or sudden death events. Māori or Pacific probands were less likely to have a P/LP variant identified than European or other ethnicity probands.
摘要：
■Aotearoa/新西兰拥有多种族人口。患有肥厚型心肌病（HCM）的患者被纳入新西兰国家心脏遗传性疾病登记处。这里,我们报告了心脏遗传疾病注册新西兰HCM先证者的特征，有和没有致病性或可能致病性（P/LP）的HCM遗传变异，并通过自我识别的种族评估基因检测产量和变异谱。
■在新西兰心脏遗传性疾病登记处登记并在17年时间内接受过临床基因检测的HCM先兆。临床数据,家族史,并对基因检测结果进行分析。
■在336个先证者中，121人（36%）是女性，220人（66%）是欧洲种族，41人（12%）是毛利人，26人(8%)是太平洋人，49（15％）是其他种族。13位先证者（4％）出现猝死，19位（6％）出现心脏骤停。总共134个(40%)具有鉴定的P/LP变体;最常见的是MYPBC3基因(60%),其次是MYH7基因(24%)。在27％的毛利人或太平洋先证者中发现了P/LP变体，而在43％的欧洲或其他种族先证者中发现了P/LP变体（P=0.022）；毛利人或太平洋先证者中有16％的变体具有不确定的意义，与9%的欧洲或其他种族先证者相比(P=0.092)。女性比男性更容易发现P/LP变异（48%对35%；P=0.032）。和变异阳性先证者在临床诊断时比不确定显著性变异/变异阴性先证者年轻(39±17岁对50±17岁;P<0.001),并且更有可能在其一生中经历心脏骤停或猝死事件(P=0.002).
■HCM先证者中P/LP变体的携带与年轻时的表现有关，和心脏骤停或猝死事件。与欧洲或其他种族先证者相比，毛利人或太平洋先证者不太可能拥有P/LP变体。
■在新西兰心脏遗传性疾病登记处登记并在17年时间内接受过临床基因检测的HCM先兆。临床数据,家族史,并对基因检测结果进行分析。
■在336个先证者中，121人（36%）是女性，220人（66%）是欧洲种族，41人（12%）是毛利人，26人(8%)是太平洋人，49（15％）是其他种族。13位先证者（4％）出现猝死，19位（6％）出现心脏骤停。总共134个(40%)具有鉴定的P/LP变体;最常见的是MYPBC3基因(60%),其次是MYH7基因(24%)。在27％的毛利人或太平洋先证者中发现了P/LP变体，而在43％的欧洲或其他种族先证者中发现了P/LP变体（P=0.022）；毛利人或太平洋先证者中有16％的变体具有不确定的意义，与9%的欧洲或其他种族先证者相比(P=0.092)。女性比男性更容易发现P/LP变异（48%对35%；P=0.032）。和变异阳性先证者在临床诊断时比不确定显著性变异/变异阴性先证者年轻(39±17岁对50±17岁;P<0.001),并且更有可能在其一生中经历心脏骤停或猝死事件(P=0.002).
■HCM先证者中P/LP变体的携带与年轻时的表现有关，和心脏骤停或猝死事件。与欧洲或其他种族先证者相比，毛利人或太平洋先证者不太可能拥有P/LP变体。
