Archana Arumugom, Natarajan Chandra Kumar, Kumar Vaanathi Hementha, Subramaniyam Gnanasambandam, Ramachandran Bala, Balakrishnan Komarakshi, Suresh Rao K G, Berwal Abhishek, Nandyala Vishwanath, Iyer Swati
Department of Neonatology, Kanchi Kamakoti Child Trust Hospital, Chennai, Tamil Nadu, India.
Department of Pediatric Cardiology, Kanchi Kamakoti Child Trust Hospital, Chennai, Tamil Nadu, India.
Ann Pediatr Cardiol. 2024 Jan-Feb;17(1):81-84. doi: 10.4103/apc.apc_193_23. Epub 2024 May 24.
A neonate born of third-degree consanguineous marriage presented on day 12 of life with congestive cardiac failure. A male sibling died at 3 months of age, cause of which was not known. He was treated with decongestive measures and multiple inotropes. 2D Echocardiogram revealed severe Left ventricular dysfunction with prominent trabeculations and deep recesses in the left ventricle suggestive of Left ventricular non-compaction. He was also found to have horse-shoe kidney. Considering the presence of cardiac left ventricular non compaction, horse-shoe kidney and family history of neonatal death and pregnancy loss clinical exome sequencing was done. It detected a homozygous missense variant in exon 6 of the AGK gene suggestive of Senger's syndrome. Baby was on regular follow-up and was thriving well on diuretics, sacubitril-valsartan and weekly levosimendan infusions. At 8 months of age, cardiac transplantation was successfully done and baby has been doing well post-transplantation. LVNC in children is rare with an estimated incidence of 0.11 per 100,000, the highest incidence being during infancy. Senger's syndrome is autosomal recessive in inheritance. Senger's syndrome associated with Left ventricular non compaction has been reported only once in literature so far. Renal manifestations in the form of horse shoe kidney like in our index baby has not been reported previously with Senger's syndrome.
一名三级近亲结婚所生的新生儿在出生后第12天出现充血性心力衰竭。一个男性同胞在3个月大时死亡,死因不明。他接受了减轻充血措施和多种强心药物治疗。二维超声心动图显示严重的左心室功能障碍,左心室有明显的肌小梁和深陷凹,提示左心室心肌致密化不全。还发现他患有马蹄肾。考虑到存在心脏左心室心肌致密化不全、马蹄肾以及新生儿死亡和妊娠丢失的家族史,进行了临床外显子组测序。结果在AGK基因第6外显子中检测到一个纯合错义变异,提示为森格尔综合征。婴儿定期接受随访,使用利尿剂、沙库巴曲缬沙坦和每周一次的左西孟旦静脉输注,情况良好。在8个月大时,成功进行了心脏移植,婴儿移植后情况良好。儿童左心室心肌致密化不全很少见,估计发病率为每10万人中有0.11例,发病率最高的时期是婴儿期。森格尔综合征为常染色体隐性遗传。迄今为止,文献中仅报道过一次与左心室心肌致密化不全相关的森格尔综合征。像我们的索引病例婴儿这样以马蹄肾形式出现的肾脏表现,以前在森格尔综合征中尚未有过报道。