Skip to main content
. 2020 Jan 16;12(1):e6676. doi: 10.7759/cureus.6676

Table 3. Different articles highlighting the hepatic and cardiac involvements in Shwachman-Diamond syndrome.

SDS: Shwachman-Diamond syndrome

Author Journal (year of publication) Type of study Findings
Camacho, et al. [18] World Journal of Clinical Cases (2019) Case report Report of a male child with severe hepatic dysfunction at an early age of 16 months. This shows that not all hepatic involvements in the disease improve with age. Hence all pediatric healthcare providers should be aware and do thorough investigation and continuous close monitoring of liver functions in children diagnosed with SDS.
Liebman, et al. [19] Clinical Pediatrics (1979) Case report The case of a 15-month-old male with asymptomatic persistent liver disease. This shows obscure hepatic involvement and hence thorough hepatic screening should be done in SDS.
Savilahti, et al. [22] Acta Paediatrica (1984) Case report Sixteen Finnish patients studied for 17 years with eight cases found at autopsy with cardiac failure due to lesions in left ventricle showing necrosis of the myofibers. Also, a transient heart failure was seen in one of the remaining eight patients.
Kopel, et al. [23] Cardiology in the Young (2011) Case report SDS patients diagnosed at autopsy, died of cardiac failure due to dilated cardiomyopathy with pulmonary hypertension. This shows the involvement of heart in this disease is a serious complication that leads to death if left undiagnosed.
Toiviainen-Salo, et al. [26] Journal of Pediatrics (2009) Retrospective and cross-sectional study Study carried out on 12 patients aged 2–37. It showed most patients with increased transaminase levels and hepatomegaly that resolved by age 5. Hepatic micro cysts were found in three middle-aged patients. Through continuous follow-up, mild cholestasis was recorded even after normal transaminase levels. This reflects a hepatic metabolism alteration in SDS.