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Fully penetrant genetic mutation results in wide familial variability: a cardiac magnetic resonance focused report

Maria Livia Iovanescu
Maria Livia Iovanescu
, 
Andreea Sorina Marcu
Andreea Sorina Marcu
, 
Cristian Militaru
Cristian Militaru
, 
Octavian Istratoaie
Octavian Istratoaie
, 
Ioana Gheonea
Ioana Gheonea
 und 
Sebastian Militaru
Sebastian Militaru
   | 30. Apr. 2022
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Article Category: Case Presentation
Online veröffentlicht: 30. Apr. 2022
Seitenbereich: 129 - 135
DOI: https://doi.org/10.47803/rjc.2021.31.1.129
Schlüsselwörter
© 2021 Maria Livia Iovanescu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1

Long axis Cine SSFP imaging in the 4-chamber plane (left – end diastole; right – end systole) showing mild dilation of the left ventricle (LV) and non-compaction in the lateral wall and apex (non-compacted/compacted myocardium – NC/C = 2.5). Right ventricular (RV) dimensions and function were normal. LV = left ventricle; RV = right ventricle.
Long axis Cine SSFP imaging in the 4-chamber plane (left – end diastole; right – end systole) showing mild dilation of the left ventricle (LV) and non-compaction in the lateral wall and apex (non-compacted/compacted myocardium – NC/C = 2.5). Right ventricular (RV) dimensions and function were normal. LV = left ventricle; RV = right ventricle.

Figure 2

T1 mapping image in the short axis mid-ventricular plane showing high T1 in the inferior septum (white arrow). The color green represents normal T1, while yellow means high T1 (>1300 ms). LV = left ventricle; RV = right ventricle.
T1 mapping image in the short axis mid-ventricular plane showing high T1 in the inferior septum (white arrow). The color green represents normal T1, while yellow means high T1 (>1300 ms). LV = left ventricle; RV = right ventricle.

Figure 3

Serial short axis late gadolinium enhancement PSIR images showing mid-wall left ventricular (LV) basal and midventricular fibrosis (yellow arrows) in the inferior interventricular septum with incomplete extension towards the anterior IVS – incomplete „septal stripe”. LV = left ventricle; RV = right ventricle.
Serial short axis late gadolinium enhancement PSIR images showing mid-wall left ventricular (LV) basal and midventricular fibrosis (yellow arrows) in the inferior interventricular septum with incomplete extension towards the anterior IVS – incomplete „septal stripe”. LV = left ventricle; RV = right ventricle.

Figure 4

Initial pedigree: index patient (A1) is indicated by black arrowhead. Family members encoded for reference in the following text and images.
Initial pedigree: index patient (A1) is indicated by black arrowhead. Family members encoded for reference in the following text and images.

Figure 5

CMR images of the index patient’s mother, 6 years prior. Left – SSFP Cine long axis 4-chamber image in end-diastole showing severe LV dilation and lateral wall non-compaction. Right – Short axis late gadolinium enhancement imaging showing mid-wall fibrosis in the basal inferior IVS. LV = left ventricle; RV = right ventricle.
CMR images of the index patient’s mother, 6 years prior. Left – SSFP Cine long axis 4-chamber image in end-diastole showing severe LV dilation and lateral wall non-compaction. Right – Short axis late gadolinium enhancement imaging showing mid-wall fibrosis in the basal inferior IVS. LV = left ventricle; RV = right ventricle.

Figure 6

Updated family pedigree after complete genetic testing showing almost full penetrance.
Updated family pedigree after complete genetic testing showing almost full penetrance.

Figure 7

Central illustration. Comparison of CMR findings in all family members, showing high phenotypic variability. Family members are listed from top to bottom according to the codes given in the pedigree. For each patient, on the left there is a long-axis 4 chamber plane at end-diastole with white arrows pointing towards non-compacted zones and a 1 cm2 red square for reference. On the right there is a basal short axis late enhancement image with yellow arrows pointing towards fibrosis.LV = left ventricle; RV = right ventricle; LVEDV = left ventricular end-diastolic volume; LVEF = left ventricular ejection fraction; NC/C = ratio of non-compacted over compacted myocardium.
Central illustration. Comparison of CMR findings in all family members, showing high phenotypic variability. Family members are listed from top to bottom according to the codes given in the pedigree. For each patient, on the left there is a long-axis 4 chamber plane at end-diastole with white arrows pointing towards non-compacted zones and a 1 cm2 red square for reference. On the right there is a basal short axis late enhancement image with yellow arrows pointing towards fibrosis.LV = left ventricle; RV = right ventricle; LVEDV = left ventricular end-diastolic volume; LVEF = left ventricular ejection fraction; NC/C = ratio of non-compacted over compacted myocardium.
eISSN:
2734-6382
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
4 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Klinische Medizin, Allgemeinmedizin, Innere Medizin, Kardiologie, Kinder- und Jugendmedizin, Kinderkardiologie, Chirurgie, Herzchirurgie
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