Pregnancy Counseling in a Young Woman With Left Ventricular Non-Compaction

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Left ventricular non-compaction (LVNC) cardiomyopathy (n=1). Intervention: Transthoracic echocardiography, genetic testing, and pregnancy counseling. Primary outcome: Diagnosis of LVNC and identification of genetic mutation.

Q: What does this research mean for the field?

A novel ACTC1 p.P34R missense mutation is associated with genetic left ventricular noncompaction presenting with reduced left ventricular ejection fraction. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Saif El Nawaa; Wasawat Vutthikraivit; Leighann Jenkins

doi:10.1177/23247096211053713

January 1, 2021Journal of Investigative Medicine High Impact Case ReportsOpen Access

Pregnancy Counseling in a Young Woman With Left Ventricular Non-Compaction

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Key result

Novel ACTC1 mutation links to left ventricular noncompaction and prompts preconception counseling.

n=1

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Why the study?

There are no guidelines regarding pregnancy planning or outcome in women with left ventricular noncompaction cardiomyopathy.

Key Points

To examine the clinical evaluation, risk assessment, and genetic counseling considerations for pregnancy in a woman diagnosed with left ventricular noncompaction.
Evaluated a 28-year-old asymptomatic woman presenting for pregnancy counseling with an infantile history of endocardial fibroelastosis.
Conducted physical examination, laboratory testing, electrocardiography, transthoracic echocardiography, and genetic sequencing.
Transthoracic echocardiography identified a left ventricular ejection fraction of 40% to 44%, global hypokinesis, and a noncompacted-to-compacted myocardial ratio of 4.8 in the apex.
Genetic analysis detected an unreported missense mutation variant, p.P34R (c.101C>G), in the sarcomere-encoding ACTC1 gene, inherited in an autosomal dominant pattern.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P

Population

A 28-year-old asymptomatic female with a Childhood history of congestive heart failure attributed to endocardial fibroelastosis, presenting for pregnancy counseling and diagnosed with left ventricular noncompaction cardiomyopathy (LVEF 40-44%).

I

Intervention

Diagnostic evaluation with transthoracic echocardiography (TTE), direct DNA sequencing for familial cardiomyopathy genes, and preconception genetic and pregnancy counseling.

O

Outcome

Diagnosis of left ventricular noncompaction cardiomyopathy (noncompacted-to-compacted myocardium ratio of 4.8), identification of a novel heterozygous missense mutation variant p.P34R (c.101C>G) in the ACTC1 gene, and clinical recommendation against pregnancy.

This case highlights the importance of accurate echocardiographic diagnosis, genetic testing (identifying a novel ACTC1 p.P34R variant), and individualized preconception counseling in women with left ventricular noncompaction cardiomyopathy.

Limitations

Single patient case report
Limited data available about the course of LVNC in pregnancy
No specific antepartum or peripartum guidelines exist for patients with LVNC cardiomyopathy
Detected ACTC1 mutation (p.P34R) is a variant of unknown significance
Limited data available in the literature about the course of LVNC during pregnancy
Lack of standard diagnostic criteria and antepartum/peripartum management guidelines for LVNC
Variable penetrance in autosomal dominant inheritance complicates calculating transmission risk to offspring

Implication

May guide individualized preconception counseling in LVNC; leaves open validation of ACTC1 p.P34R pathogenicity and pregnancy risks.

Abstract

Left ventricular noncompaction (LVNC) is an uncommon form of cardiomyopathy. Its prevalence in adults is 1:5000. In the differential diagnosis of congestive heart failure, it is rarely the etiology. The etiology of LVNC may be genetic or acquired. There are not guidelines regarding pregnancy planning or outcome in women with this disease. In this presentation, we bring the issue of genetics and pregnancy counseling in women with left ventricular noncompaction.

Discussion

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Cite This Study

Nawaa et al. (2021) conducted a case report in Left ventricular non-compaction (LVNC) cardiomyopathy (n=1). Transthoracic echocardiography, genetic testing, and pregnancy counseling was evaluated on Diagnosis of LVNC and identification of genetic mutation. Echocardiography and DNA sequencing in a 28-year-old woman revealed left ventricular noncompaction (ratio 4.8, LVEF 40-44%) and a novel ACTC1 p.P34R mutation, prompting advice against pregnancy.

synapsesocial.com/papers/6a771c04d8eb58afc2bda2b5 https://doi.org/10.1177/23247096211053713

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Pregnancy Counseling in a Young Woman With Left Ventricular Non-Compaction

Figures

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

Pregnancy Counseling in a Young Woman With Left Ventricular Non-Compaction

Figures

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

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