Letter to the Editor in response to the article “Preventing congenital neonatal heart block in offspring of mothers with anti-SSA/Ro and SSB/La antibodies: A review of published literature and registered clinical trials.” by Gleicher N, Elkayam U, Autoimmun Rev. 2013 Sep;12(11):1039-45

The clinical spectrum of autoimmune congenital heart block

“…100 We support the idea that autoimmune CHB should be defined strictly, with two mandatory features (maternal anti-Ro and anti-La autoantibodies plus diagnosis of AV block in utero or neonatally) that conform to a specific disease phenotype, thus preserving the homogeneity of the populations studied. 13 This definition will facilitate the launch of practical recommendations for a specific and well-defined disease entity and will help differentiate autoimmune CHB from other CHBs with nonautoimmune aetiologies. Unfortunately, irreversible complete AV block is the principal cardiac manifestation of CHB, and some babies might develop more severe cardiac complications (EFE, valvular insufficiency) even in the absence of cardiac block.…”

“…12,13 In a systematic review for this article (methodology explained in Box 2) of 39 retrospective or case–control studies, we found that anti-Ro and/or anti-La antibodies were detected in 1,230 (87%) out of 1,416 CHB-affected mothers; 14–52 although the remaining cases were classified as immunonegative, they overwhelmingly correspond to CHB diagnosed in children aged ≥15 years or were cases in which mothers were not tested for the complete panel of CHB-associated autoantibodies (specific for 52 kDa Ro, 60 kDa Ro, or La).…”

“…28 Two earlier studies also indicated that the more maternal autoantibodies specific for the three antigens (Ro60, Ro52, La) that are detected, the higher the risk of developing CHB. 13,20 …”

Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome

“…Cardiac manifestations include congenital heart block (CHB), endocardial fibroelastosis (EFE) and dilated cardiomyopathy (DCM) [1][2][3][4][5][6][7][8][9]. CHB is defined by atrio-ventricular block occurring in utero or in the neonatal period (b 28 days of life) [9].…”

Clinical course and outcome of antenatally detected atrioventricular block: experience of a single tertiary centre and review of the literature

“…6 By contrast, isolated AVB (i-AVB) in the fetus in the absence of CHD is usually immunemediated, resulting from transplacental transfer of maternal circulating antibodies to Ro (SSA) and La (SSB) antigens. [7][8][9][10][11][12][13][14][15] The risk for developing heart block in the fetus in the presence of maternal anti-SSA and anti-SSB antibodies is around 1% to 2%, with a recurrence risk of 14% to 17%. 7,13,[15][16][17] The pathogenesis is thought to be secondary to immune-mediated inflammatory response and injury to the developing fetal myocardium and conduction tissue.…”