Absence of the aortic valve associated with hypoplastic left-sided heart syndrome

Abstract

In contrast with the absence of the pulmonary valve 1 , the aortic valve agenesis, which always occurs in association with other defects, is much rarer. Just eleven such cases have been reported in the medical literature [2][3][4][5][6][7][8][9][10] . In eight of these, associated hypoplastic left-sided heart syndrome was present [4][5][6][7][8]10 . Normally related great arteries with aortic annulus stenosis was present in one 9 and in another two patients double outlet right ventricle was present 2,3 (being in one part of a complex anatomy with polisplenia) 3 . Other defects have been described, for example total anomalous venous drainage 8 , pulmonary venous stenosis 8 , subaortic stenosis by anomalous mitral chordal attachments 4 and left ventricular endocardial fibroelastosis 4,5,8,10 . We relate one more such case of absence of the aortic valve associated with hypoplastic left-sided heart syndrome, but with a well developed ascending aorta and left ven tricular cavity, due to a prominent aortic insufficiency, both being diagnosed in life and confirmed at autopsy. Case ReportOur patient was a male neonate born weighing 4190g after an uneventful pregnancy and a normal delivery. He was discharged on the second day, but a mild cyanosis and tachypnea were responsible for his readmission to our service after 22 days of life.At that time, the baby had weak pulses that improved after prostaglandin E 1 IV -0.01µg/kg/mm. Suddenly, he became acyanotic, with strong pulses, mostly at the lower limbs, with a very comfortable clinical state. His weight was 4270g, heart rate was 150 per minute and blood pressure was 111x69 mmHg in the upper extremities and 88x43 mmHg in the lower extremities. Pulse oxygen saturation was 98 at rest and 85 with crying.Remarkable cardiac findings were impulsive left sternal border lift, accentuated cardiac heart sounds, systolic ejection click all over the precordium and a systolic and diastolic (to and fro) moderate intensity murmur along the left sternal border.The lungs were clear and the liver was palpable at three centimeters below the right costal margin.Eletrocardiography revealed sinus rhythm, the QRS axis at + 150 o , the T axis at + 90 o and the P axis at +60 o . Undetermined ventricular overload was evident as the rS complexes were visible from V 1 through V 6 .Chest radiography showed moderate cardiac enlargement and increased pulmonary vascular markings.Laboratory blood analysis revealed: Hg: 14.7g%, Hct: 44%, CKMB: 18U, Urea: 29, Creatinine: 0.6mg.Echocardiography and cardiac catheterization ( fig.1) characterized the anomaly in the setting of an absence of left atrioventricular connection with a concordant ventriculoarterial connection. A large reversal ductal flow from huge pulmonary arteries was seen with a retrograde filling of the ascending aorta and subsequently the left ventricular cavity through a remarkable aortic valve insufficiency. A small left atrium received all pulmonary veins that drained to the right atrium through two atrial septal defects of five and 2m-m in ...

Transcatheter device occlusion of the left ventricular outflow tract as treatment for severe aortic regurgitation in hypoplastic left heart syndrome

“…Surgical occlusion of the insufficient native aortic valve has been reported together with Norwood Stage I palliation . More recently, also interventional approaches have been proven to be successful for similar conditions: Riede et al published the interventional closure of the aortic valve with an Amplatzer TM septal occluder in the setting of a borderline sized left ventricle , and stenting of the LVOT was performed by another group as alternative approach to ductal stenting or a Blalock–Taussig shunt in HLHS .…”