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

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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.

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Since the work is a review of cases published in the literature by several authors, no informed consent of the patients was feasible and therefore was not obtained.

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Authors and Affiliations

  1. Krankenanstalt Rudolfstiftung, Juchgasse 25, 1030, Vienna, Austria

    Claudia Stöllberger & Josef Finsterer

  2. Vienna Institute of Demography of the Austrian Academy of Sciences, Wohllebengasse 12-14, 1040, Vienna, Austria

    Christian Wegner

  3. Steingasse 31/18, 1030, Vienna, Austria

    Claudia Stöllberger

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  1. Claudia Stöllberger
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Stöllberger, C., Wegner, C. & Finsterer, J. Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome. Pediatr Cardiol 36, 1319–1326 (2015). https://doi.org/10.1007/s00246-015-1200-y

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