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17-07-2011 | Cardiology | Article

Screening relatives of LV outflow tract obstruction patients proposed


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MedWire News: Cardiac screening should be offered to relatives of patients with left ventricular outflow tract obstructions (LVOTOs), research suggests.

A study conducted at University Medical Center, Groningen, The Netherlands, found that 20% of patients with LVOTO without noncardiac congenital anomalies (NCA) had an affected first-degree relative, frequently with undetected bicuspid aortic valves (BAV).

"Cardiac screening of relatives of patients with LVOTO without NCA is justified… [and] may help prevent sudden unexpected cardiac death or life-threatening complications in relatives with undetected BAV," write Wilhelmina Kerstjens-Fredrikse and colleagues in the journal Heart.

In the current study, a cohort of 249 consecutive LVOTO patients aged between 0 and 18 years were offered genetic counseling. Of the 182 patients who consented, 40 (22%) had LVOTO-NCA. Cardiac screening was performed in 449 first-degree relatives of the remaining 142 LVOTO patients.

Cardiac screening disclosed a cardiac anomaly in 34 (8%) of the first-degree relatives. In 68% of these cases, the anomaly was a BAV.

In all, 24 (71%) of the cardiac abnormalities in first-degree relatives were new findings from the cardiac screening program, while the rest of the abnormalities were already known.

Importantly, all 34 cardiac abnormalities were found in the families of 24 (20%) of the index cases.

"Offering genetic counseling and cardiac screening including echocardiography to all families of patients with LVOTO is warranted," write the authors.

In a related editorial, Kim McBride and Vidu Garg (The Ohio State University, Columbus, USA) state that "early diagnosis allows intervention to occur before complications arise" and point out that the American College of Cardiology and American Heart Association have already recommended screening for first-degree relatives of BAV patients.

However they acknowledge that it remains unclear when cardiac screening for BAV should start and how often it should be repeated.

MedWire ( is an independent clinical news service provided by Springer Healthcare Limited. © Springer Healthcare Ltd; 2011

By Piriya Mahendra

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