Fetal Hypertrophic
Fetal Cardiomyopathy Hypertrophic Diagnosis help from OB Images

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Hypertrophic cardiomyopathy Patient 1. 21 weeks.

Hypertrophic cardiomyopathy (HCM). Unknown etiology. The remainder to cardiac exam is normal.

1.HCM2.HCM

Above. Patient 1. Apical four chamber view. Hypertrophic cardiomyopathy. Note LV (left ventricle) and RV (right ventricle) with bilaterally TMW (thickened myometrial wall). Lumen of right ventricle may be compromised.

Hypertrophic CM Fetal Chamber Heart ImageHypertrophic CM Fetal Chamber Heart

Above. Patient 1. Hypertrophic cardiomyopathy. Similar apical four chamber view demonstrating LV (left ventricle) with RVW (right ventricular wall).

5.Fn..HCM3.26..HCM3.2

Above. Patient 2. Hypertrophic cardiomyopathy. Enlarged heart with abnormal cardio thoracic ratio of 0.63. (Usual cutoff 0.48) consistent with maternal diabetes mellitus. Cardiac exam otherwise normal.

MC LVW and RVW of Hypertrophic Fetal Heart ConditionTTS HCM Hypertrophic Fetal Heart Condition

Above. Patient 3. Hypertrophic cardiomyopathy. Twin twin transfusion syndrome with LVW (left ventricular wall) thickening and RVW (right ventricular wall) thickening. Note recipient twin with thin MC (monochorionic) membrane.

 Umbilical cord and Hypertrophic CM Med.ucUmbilical cord and Hypertrophic CM from Med EDU

Above. Patient 3. Recipient twin with hypertrophic cardiomyopathy; twin transfusion syndrome with edema of the umbilical cord. Note increased amniotic fluid volume.

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Page Links: Ultrasound Diagnosis: Hypertrophic Cardiomyopathy, Measurements, Other Congenital Cardiac Defects, Systolic and Diastolic Function, Genetic and Associated Conditions, Differential Diagnosis, References

Ultrasound Diagnosis: Hypertrophic Cardiomyopathy

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The diagnosis of HCM can be made on 2-D echocardiography with the finding of unexplained left ventricular wall thickening, most often in the presence of a small left ventricular cavity. In HCM, left ventricular hypertrophy predominates but right ventricular hypertrophy can also be present. The heart may be enlarged but the main feature is hypertrophy.

Measurements

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Different degrees of hypertrophy of the myocardial walls and of ventricular dysfunction may occur and worsen with advancing gestational age. [1]

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Nomograms are available for cardiac measurements. [2] The normal gestational range for the fetal left and right ventricle is recorded for the internal transverse end-diastolic diameter, which is measured in the four chamber view just below the mitral valve and tricuspid valve, respectively. Another useful measurement includes the fetal left/right ventricular ratio which is the internal end-diastolic diameter measured in the four chamber view just below the AV valves and expressed as a ratio.

Other Congenital Cardiac Defects

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Usually, there are no other congenital heart defects. However the following associated congenital malformations are reported: partial anomalous pulmonary venous connection, left ventricular outflow obstruction, severe biventricular hypertrophy, right ventricular hypertrophy and hydrops. [3]

Systolic and Diastolic Function

Fetal Hypertrophic Systolic and Diastolic Function

Systolic function may be normal or slightly increased and there may be abnormal diastolic flow through the mitral valve and mild regurgitation, while heart failure in utero is possible, it is infrequent (6.7%) or mild. [4] Use color flow and pulsed Doppler to assess for abnormal diastolic flow and mitral regurgitation.

abnormal diastolic flow and mitral regurgitation

Others report systolic dysfunction in 15 of 33 HCM fetuses. Diastolic dysfunction as measured by pulsed Doppler of the IVC, hepatic veins and umbilical vein correlate with mortality. [6] These were manifest by a wave reversal in the IVC and diastolic pulsations in the umbilical vein. Finally, an assessment for hydrops and pericardial effusion should be undertaken.

Genetic and Associated Conditions

Genetic and Associated Conditions

HCM is associated with a variety of syndromes and malformations, and a family history is necessary in light of familial HCM. Major clinical associations include diabetes and twin-to-twin transfusion syndrome and in these entities, HCM usually resolves within 3 to 6 months.

HCM is associated with a variety of syndromes and malformations

Frequently associated malformations include, central nervous system and certain syndromes such as Noonan. Other reported associations include alpha thalassemia and a number of mitochondrial disorders. In addition, primary cardiac storage diseases are possible, while a number of HCM fetuses will have no identifiable etiology.

Genetic counseling and potential genetic testing should be considered in all patients with HCM.

Differential Diagnosis

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Left Ventricular Non-compaction Syndrome

Left ventricular non-compaction syndrome is another primary genetic cardiomyopathy in which familial and non-familial cases have been identified. The apical portion of the left ventricular chamber demonstrates deep sinusoids and trabecular recesses, which can be seen on 2-D ultrasound. [7]

Left Ventricular Outflow Obstruction

Left ventricular outflow obstruction from aortic origin, or from hypoplastic left ventricle should be excluded. Therefore, pulsed Doppler of the aortic valve is a part of the investigation.

Rhabdomyoma

Some forms of rhabdomyoma can be confused with HCM.

References

Articles from US National Library of Medicine

  1.  Mongiov√¨ M1, Fesslova V, Fazio G, Barbaro G, Pipitone S.  Diagnosis and prognosis of fetal cardiomyopathies: a review.  Curr Pharm Des.  2010;16(26):2929-34.
     

    Diagnosis and prognosis of fetal cardiomyopathies: a review Abstract: PMID: 20632954

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  2.  Shapiro I1, Degani S, Leibovitz Z, Ohel G, Tal Y, Abinader EG.  Fetal cardiac measurements derived by transvaginal and transabdominal cross-sectional echocardiography from 14 weeks of gestation to term.  Ultrasound Obstet Gynecol.  1998 Dec;12(6):404-18.
     

    Fetal cardiac measurements derived by transvaginal and transabdominal cross-sectional echocardiography Abstract: PMID: 9918089

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  3.  Pedra SR1, Smallhorn JF, Ryan G, Chitayat D, Taylor GP, Khan R, Abdolell M, Hornberger LK.  Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome.  Circulation.  2002 Jul 30;106(5):585-91.
     

    Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome Abstract: PMID: 12147541

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  4.  Fesslova V1, Mongiov√¨ M, Pipitone S, Brankovic J, Villa L.  Features and outcomes in utero and after birth of fetuses with myocardial disease.  Int J Pediatr.  2010;2010:628451.
     

    Features and outcomes in utero and after birth of fetuses with myocardial disease Abstract: PMID: 20976307

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  5.  Pedra SR1, Smallhorn JF, Ryan G, Chitayat D, Taylor GP, Khan R, Abdolell M, Hornberger LK.  Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome.  Circulation.  2002 Jul 30;106(5):585-91.
     

    Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome Abstract: PMID: 12147541

    [back]

  6.  Pedra SR1, Smallhorn JF, Ryan G, Chitayat D, Taylor GP, Khan R, Abdolell M, Hornberger LK.  Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome.  Circulation.  2002 Jul 30;106(5):585-91.
     

    Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome Abstract: PMID: 12147541

    [back]

  7.  Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.  Circulation.  2006 Apr 11;113(14):1807-16.

    Contemporary definitions and classification of the cardiomyopathies: Abstract: PMID: 16567565

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