Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome

Abstract

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Aim of the review was to summarize the current knowledge about fetal LVHT, including clinical presentation, associated cardiac and extracardiac abnormalities and outcome. In 88 cases, LVHT was diagnosed by fetal echocardiography. In 36 %, no additional cardiac abnormalities were reported; in the remaining 64 %, one or more cardiac abnormalities were reported. Eight cases died prenatally, 17 were electively terminated, and 24 patients died after birth. Six patients were lost to follow-up, and 33 patients are alive at a mean age of 26 months. Surviving cases presented less frequently with fetal hydrops (13 vs. 62 %, p = 0.0004), complete heart block (27 vs. 78 %, p = 0.0076), more than three associated cardiac abnormalities (9 vs. 47 %, p = 0.0008) and more frequently with isolated LVHT (52 vs. 19 %, p = 0.009) than cases who died. Of the surviving patients, 16 received pharmacotherapy, three received pacemakers, eight underwent surgical procedures and four underwent heart transplantation. Postnatal regression of left ventricular hypertrophy and development of LVHT was found in four cases, improvement in cardiac function in two, and regression of right VHT in two. At autopsy, endocardial fibrosis was the most frequent abnormality in 92 %. Thirty-eight percentage of cases with fetal LVHT survived. Fetal and postnatal echocardiographic findings challenge the "embryonic pathogenetic" hypothesis of LVHT. Furthermore, fetal pathoanatomic findings like endocardial fibrosis might play a role in clarifying the still unsolved pathogenesis of LVHT.

Comment on “Ventricular non‐compaction cardiomyopathy: prenatal diagnosis and pathology”

“…In the description of the anatomic and pathologic findings of the seven postmortally investigated hearts, we missed a description of the endocardium and if endocardial fibrosis was found. In fetal LVHT cases that underwent pathoanatomic investigation, endocardial fibrosis was described in 92% . Endocardial fibrosis is also frequently found in adults with LVHT .…”

“…We have the following questions and concerns: Our review of 106 published cases showed that 46 (43%) with prenatally diagnosed LVHT were reported to be alive 0.5–120 months (mean 28 months) after birth . The surviving cases presented less frequently with fetal hydrops (13% vs 62%, p = 0.0004), complete heart block (27% vs 78%, p = 0.0076), more than three associated cardiac abnormalities (9% vs 47%, p = 0.0008) and more frequently with isolated LVHT (52% vs 19%, p = 0.009) than cases that died.…”

“…The surviving cases presented less frequently with fetal hydrops (13% vs 62%, p = 0.0004), complete heart block (27% vs 78%, p = 0.0076), more than three associated cardiac abnormalities (9% vs 47%, p = 0.0008) and more frequently with isolated LVHT (52% vs 19%, p = 0.009) than cases that died. Of the surviving patients, 16 received pharmacotherapy, three pacemakers, eight underwent surgical procedures and four heart transplantation . In the view of these data, we have ethical concerns to counsel parents and to give them the option of terminating the pregnancy only because of the diagnosis of LVHT.…”

“…Of the surviving patients, 16 received pharmacotherapy, three pacemakers, eight underwent surgical procedures and four heart transplantation. 2 In the view of these data, we have ethical concerns to counsel parents and to give them the option of terminating the pregnancy only because of the diagnosis of LVHT.…”

“…In fetal LVHT cases that underwent pathoanatomic investigation, endocardial fibrosis was described in 92%. 2 Endocardial fibrosis is also frequently found in adults with LVHT. 9,10 Endocardial fibrosis may enhance the detection rate of LVHT because the endocardial boundary and the trabeculations become more clearly visible when investigating the heart by ultrasound examination.…”