Thoracic Aortic Dissection Combined with Dilated Cardiomyopathy in a Patient
with Autosomal Dominant Polycystic Kidney Disease
Harveen K. Lamba, Steven Plato, Yakov Elgudin.
University Hospitals Case Medical Center, Cleveland, OH, USA.
Patient Demographics: 34 year old white male, end stage renal disease (ESRD), autosomal dominant polycystic kidney disease (ADPKD)
Relevant History: 34 year old man presented with dyspnea on exertion and cough productive of grey sputum. Transesophageal echocardiography showed ejection fraction (EF) of 20% and possible vegetation. He was treated medically for heart failure and culture negative endocarditis. Upon readmission for exacerbation, echocardiography showed linear opacity in the proximal aorta suggestive of focal dissection and EF of 25%. CT angiography demonstrated aortic root dilation to 5.6 cm with sinotubular junction effacement and a linear structure in the proximal ascending aorta extending into the right coronary sinus (See Figure).
Pre-Operative Plan: Echocardiography and CT findings consistent with type A dissection. Plan to replace ascending aorta with tube graft.
Discussion of what was actually done and the challenges, deaths and complications encountered. (Unless case is still pending): Dissection included the right coronary sinus of valsalva, but spared valve cusps and coronary arteries. Valve sparing aortic root replacement was completed without any complications. He tolerated surgery well and was discharged home.
ADPKD is a common inherited disorder, responsible for 6-10% of cases of ESRD. However, the leading cause of morbidity and mortality in ADPKD is cardiovascular; hypertension, heart valve lesions, cerebral aneurysms, aortic root dilation, and abdominal aortic aneurysm. Thoracic aortic dissection has been rarely reported. Also rare, ADPKD can be associated with heart failure due to idopathic dilated cardiomyopathy (IDCM). Mutations in PKD1 and PKD2 genes cause most cases of ADPKD and are thought to cause loss of vascular integrity and heart failure.
Often, patients with ADPKD and aortic aneurysms also have underlying Marfan syndrome, a genetic disorder of connective tissue caused by fibrillin-1 deficiency. Interestingly, our patient does not have a diagnosis of Marfan. Our patient presents a unique and rare constellation of symptoms associated with ADPKD; polycystic kidney disease, IDCM and thoracic aortic dissection without underlying Marfan. No reports of these co-existing conditions exist to our knowledge.
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