Abstract 14473: Aortic Dissection in Association With Liddle Syndrome
Introduction: Liddle syndrome is a rare form of hereditary monogenic hypertension with autosomal dominant inheritance. It usually manifests as premature hypertension, not responsive to conventional antihypertensives.To date, this is the index case report of aortic dissection in association with Liddle syndrome.
Case Report: A 29 year old male with history of Liddle syndrome and medication noncompliance, presented with sudden chest pain radiating to back. Initial blood pressure was 220/120 mmHg. EKG showed evidence of left ventricular hypertrophy with no ST-T wave changes. Troponin level was <0.01 ng/ml. Computerized Tomography Angiography (CTA) of his chest showed an acute proximal descending thoracic aortic dissection. An intramural hematoma (IMH) extended from the origin of left subclavian artery to just above the origin of renal arteries. Intravenous labetalol was administered, followed by nitroglycerin and nitroprusside infusions with close hemodynamic monitoring. He was transitioned to amiloride, clonidine and nifedipine with clinical improvement. Repeat CTA chest and abdomen showed fusiform dilatation of abdominal aorta, just above renal arteries with possible leak of IMH at the level of superior mesenteric artery. The patient underwent a Thoracic Endovascular Aortic Repair (TEVAR) to prevent further progression. He had an uneventful recovery and was discharged home.
Discussion: Liddle’s syndrome is characterized by gain of function mutations in epithelial sodium channel (ENaC) in the distal convoluted tubule of kidney. This results in systemic hypertension and hypokalemic metabolic alkalosis, with reduced renin/aldosterone secretion. It has a high degree of penetrance and manifests as premature hypertension that is responsive to salt restriction, amiloride and triamterene. Under-recognition and inappropriate treatment can lead to sustained hypertension and associated complications.Genetic counseling and diagnosis is available for certain mutations, so it is recommended that all first degree relatives undergo testing to prevent catastrophic events in future.
Conclusion: Increased awareness for Liddle Syndrome among physicians along with feasibility of genetic testing may lead to improved long term outcomes.
Author Disclosures: A. Abbass: None. J. D’Souza: None. F. Asad-Ur-Rahman: None. S. Khalid: None.
- © 2016 by American Heart Association, Inc.