遗传缺陷在35岁和23岁和18岁的兄弟中夺走了父亲的生命之后，亚利桑那少年Zowie Claudio知道她的胸部有一枚定时炸弹。她继承了胸主动脉的弱点，该主动脉将血从心脏带到身体的其余部分。缺陷可能导致她的主动脉破裂而没有警告。

Armed with that knowledge, thanks to the pioneering research of geneticistDianna M. Milewicz, MD, PhD, the young woman recently traveled to Houston for preventive surgery to repair the weakened artery.

For more than two decades, Milewicz, the President George Bush Chair in Cardiovascular Medicine at The University of Texas Health Science Center at Houston (UTHealth) and a member of UT Physicians, has been discovering genetic defects linked to the familial form of thoracic aortic disease.

Milewicz was contacted by a member of Zowie’s family in 2005 following the death of Zowie’s father David Claudio at the age of 35.

“My husband’s sister Abby Kohn reached out to Dr. Milewicz for help and we’re glad she did,” Zowie’s mother Angela Claudio said. “Back then, the genetic mutation linking my husband and children had not been discovered.”

好是唯一的兄弟还活着之后,亲爱的h of her older brother Jayce at age 23 in 2010 and her younger brother Seth at age 18 in 2018. Zowie’s father and brothers all had aortic dissections.

胸主动脉壁的弱点会导致气球，称为动脉瘤，可以剖析或撕裂。胸腔主动脉疾病，特别是导致解剖的胸腔主动脉瘤，是估计的死亡原因15,000至20,000美国人each year.

The first time many people heard of the disease was in 2003 when Hollywood actor and “Three’s Company” star John Ritter died from it. Milewicz leads the John Ritter Research Program in Aortic and Vascular Diseases at UTHealth, which focuses on preventing premature deaths due to thoracic aortic disease by improving diagnosis, treatment, and public awareness of this disease. It was established through a collaboration between UTHealth and John Ritter’s widow, Amy Yasbeck, and other members of the Ritter family.

对Zowie的血液的遗传分析表明，她在一个名为PRKG1的基因中有一个突变，该基因会损害主动脉壁中的肌肉细胞。

“The mutation causes the protein to always be active. It is almost like the brakes on your car have gone out and there is no way to stop it,” Milewicz said.

Zowie, 16, and her mother traveled from Chandler, Arizona, for the surgery after careful monitoring revealed that her thoracic aortic aneurysm had reached a size that required surgery.

“我们需要做点什么，”安吉拉说。“我们不能只是希望一切都会好起来的。”

Her surgeonAnthony Estrera, MD, professor and ad interim chair of the Department of Cardiothoracic and Vascular Surgery at McGovern Medical School at UTHealth, performed a procedure known as a valve-sparing aortic root replacement at the Aortic Center of Excellence at Memorial Hermann Heart & Vascular Institute-Texas Medical Center.

“The benefit of this procedure is that we were able to preserve her native aortic valve so she won’t have to take anticoagulant drugs for the rest of her life,” Estrera said.

During the surgery, Estrera rerouted the flow of blood away from the aorta, detached it from the heart, replaced the weakened tissue in the aorta with a graft, and reattached it to the heart.

“We reduced her risk of death from sudden aorta rupture,” said Estrera, the Hazim J. Safi, MD, Distinguished Chair in Cardiothoracic and Vascular Surgery at UTHealth and amember of UT Physicians. “She can move on with her life.”

Less than a month after the procedure, Zowie was back at Campo Verde High School and able to rejoin her yoga classes.

Milewicz and her team of researchers have discovered nine of the genes that are now known to cause a predisposition for thoracic aortic aneurysms and dissections, and are using their expertise to inform gene-based clinical management and treatment of aortic diseases. Milewicz is also on the faculty of The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences.

Angela said the family is happy to participate in the genetic research being conducted by Milewicz and believes it will help identify others at risk for this life-threatening condition. “This is very important research because often there are no symptoms,” she said.

她说：“如果不是米勒维奇博士，我将失去我的三个孩子。”

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