Carney syndrome is an autosomal dominant complex involving endocrinopathy, mucocutaneous hyperpigmentation, and different tumors, including cardiac myxomas. We report on a single family with several members affected with Carney syndrome. Family and individual medical histories were investigated in several Canadian provinces. The histology slides were also reviewed. Four family members (two young women, both sisters, their mother, and maternal grandmother) were found to harbor Carney syndrome. Everyone was presented with multiple and recurrent atrial myxomas of the heart, requiring multiple open cardiac surgeries. Breast myxomas and cutaneous hyperpigmentation were also revealed in one of the sisters and their mother. Interestingly, genetic testing was positive for the female family members and negative for the father and brother. We cannot rule out that the brother may have had a new mutation or harboring a mosaic. The young woman's brother did not have cardiac myxoma but developed a unilateral Sertoli cell tumor of testis. Carney syndrome is a rare complex multisystemic genetic disorder, including multiple and recurrent cardiac myxomas. We strongly suggest that reporting familial Carney syndrome is still critical in the 21st century to augment the awareness of this situation among clinicians and pathologists.

卡尼综合征是一种常染色体显性遗传病，涉及内分泌病、皮肤粘膜色素沉着过度和不同的肿瘤，包括心脏粘液瘤。我们报道了一个有多名成员患有卡尼综合征的家庭。在加拿大几个省份对家庭和个人病史进行了调查。还审查了组织学载玻片。四名家庭成员（两名年轻女性，均为姐妹，她们的母亲和外祖母）被发现患有卡尼综合症。每个人都患有多发性和复发性心房粘液瘤，需要多次心脏直视手术。其中一位姐妹及其母亲也发现了乳房粘液瘤和皮肤色素沉着过度。有趣的是，女性家庭成员的基因检测呈阳性，而父亲和兄弟的基因检测呈阴性。我们不能排除兄弟可能有新的突变或含有马赛克。这位年轻女子的兄弟没有患有心脏粘液瘤，但患有单侧睾丸支持细胞瘤。卡尼综合征是一种罕见的复杂多系统遗传性疾病，包括多发性和复发性心脏粘液瘤。我们强烈建议，报告家族性卡尼综合征在 21 世纪仍然至关重要，以提高临床医生和病理学家对这种情况的认识。