A Case of Fetal Diagnosis of Noncompaction Cardiomyopathy and Coarctation of the Aorta

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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Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction

Stöllberger

Wegner

Benatar

et al. 2016

Pediatr Cardiol

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Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Prenatal diagnosis of LVHT can be established by fetal echocardiography. A review of 106 published cases showed that 46 cases with prenatally diagnosed LVHT were alive 0.5-120 months after birth. Since the course of cases with prenatally LVHT after publication is unknown, we aimed to collect follow-up-information. Information regarding vital status, cardiac and extracardiac morbidity was gathered by contacting the authors of the 46 cases. Fourteen of the 28 authors answered and gave information about 18 cases (six females, seven males, five gender-unknown, age 18 months to 10 years, mean follow-up 60 months). No differences were found between the 18 cases with follow-up and the 28 cases without follow-up regarding age, gender, cardiac or extracardiac comorbidities, and interventions. Three of the 18 cases had died subsequently from heart failure, osteosarcoma, and enterocolitis, respectively. Mutations or chromosomal abnormalities were found in six of the seven examined patients, extracardiac abnormalities in nine patients. Three patients received a pacemaker because of complete AV block, and two patients underwent heart transplantation. Cardiac surgical or interventional procedures were carried out in four patients. None suffered from malignant arrhythmias or had a cardioverter-defibrillator implanted. Based on the limited information, there are indications that cases with fetal diagnosis of LVHT have a continuing morbidity and mortality, even if they receive appropriate care. Since fetal LVHT is frequently associated with genetic abnormalities, further research about survival and underlying genetic causes is needed.

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A Case of Fetal Diagnosis of Noncompaction Cardiomyopathy and Coarctation of the Aorta

Cited by 5 publications

References 7 publications

Fetal Aortic Disorders

Fetal Aortic Disorders

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

Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction

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